DYSF (dysferlin)

Gene

• Entrez ID: 8291
• Gene name: Dysferlin
• Gene symbol: DYSF
• Synonyms (NCBI Gene): FER1L1, LGMD2B, LGMDR2, MMD1
• Chromosome: 2
• Chromosome location: 2p13.2
• Summary: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937581	G>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs34061568	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs34387018	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs34997054	G>A	Benign-likely-benign, likely-pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant
rs61746816	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs76086153	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs112007817	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs114986640	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs115407852	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs115849497	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs116733194	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs121908953	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121908954	A>G	Benign-likely-benign, not-provided, pathogenic, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs121908955	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121908956	C>A,G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908957	TG>AT	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908958	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908959	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs121908960	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908961	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121908962	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908963	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137855767	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs138111360	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs138268837	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs138654170	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs139258703	C>A,G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs139529811	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs139754493	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs139879284	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs139983909	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs140108514	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs140667960	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs140809078	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs141137410	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs141497053	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs141720146	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs141818764	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs141867897	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs142301132	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142404822	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs142483266	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs142769942	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs143762717	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs144636654	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs144936357	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs145007061	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs145272777	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs145412880	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs146687581	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs146970014	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs147244033	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147483765	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs148055736	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148858485	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs148860301	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs149087116	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs149827237	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs149979662	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150093305	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150355624	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150877497	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs151268930	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151276652	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs151317754	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs180970066	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs183489578	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs185350547	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs185596534	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs189923208	G>A	Pathogenic	Splice acceptor variant
rs191337920	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs191746041	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs199543257	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs199608017	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199870606	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199954546	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs199955501	T>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200916654	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200957354	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200970855	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201049092	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201070766	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201191038	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201239189	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201319864	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201476613	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201592500	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs201869739	G>A	Pathogenic	Splice donor variant
rs201890095	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202044973	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs202123283	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs202218890	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368142107	G>A,C,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs369607332	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs370872013	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs370874727	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs371686795	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373098428	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs373328706	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs373585652	C>G,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs374489513	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374934430	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs375160101	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs375485030	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs376293526	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs377056951	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs377735262	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123763	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Splice donor variant
rs398123764	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123765	T>C	Pathogenic	Splice donor variant
rs398123767	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123768	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123769	A>G	Pathogenic	Splice acceptor variant
rs398123770	G>A	Pathogenic	Intron variant, splice acceptor variant
rs398123771	T>A	Pathogenic	Splice donor variant
rs398123772	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs398123773	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123774	GGAGG>-	Pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs398123776	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123777	AGACC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123778	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398123780	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123781	TG>AA	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, stop gained
rs398123782	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123783	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123784	CC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123786	C>-,CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123787	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123789	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123790	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs398123791	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398123792	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs398123793	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123794	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398123795	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123796	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123797	CAGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123798	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123799	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123800	G>C	Pathogenic	Splice donor variant
rs398123802	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs530181166	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs534331009	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs546679270	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs549673939	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs555206040	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs566381009	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs577921112	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs727503909	G>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs727503911	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs727503912	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs727503915	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745891180	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant
rs746243052	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs746315830	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs746480529	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs746873768	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs747289205	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs748159785	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748542672	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs750028300	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs751473506	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs752479889	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753711667	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753861836	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs755103680	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs755849745	GACA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756118312	->C	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756328339	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756689063	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs757917335	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758107024	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758180890	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant, stop gained
rs758944159	T>A,C	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs759939755	T>A,C	Likely-pathogenic	Splice donor variant
rs762226707	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs762258343	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs763198861	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs763674597	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766016391	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766341386	TT>-,TTT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs766433603	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Intron variant
rs766891289	C>A,G,T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs766936914	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs767049254	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs768425085	->AGAGTGC	Pathogenic, uncertain-significance	Intron variant, non coding transcript variant, splice donor variant, coding sequence variant
rs768546511	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769289729	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs769721856	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs769873428	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs770905160	C>G,T	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs771257070	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs772066982	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs773386253	G>A	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs773837400	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs774047700	A>-	Pathogenic	Splice acceptor variant
rs774464702	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs776472879	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777167646	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs777216777	G>T	Pathogenic	Splice donor variant
rs778065845	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs778092738	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs778185705	C>A,T	Uncertain-significance, pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs778686949	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs779407815	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779969348	G>-,GG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779987458	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs786200896	GCCCG>CCCC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786200897	A>G	Pathogenic	Splice acceptor variant
rs786200898	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs786205081	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786205082	->TCCCACAGACCTACTGTGTGTAC	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant
rs786205083	A>G	Pathogenic	Intron variant
rs786205084	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs786205524	G>A	Likely-pathogenic	Splice acceptor variant
rs786205525	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205632	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727343	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727534	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727636	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727851	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225019	->GGACTTGCCGCAGAG	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs863225020	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225021	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs866823474	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886039573	T>A	Likely-pathogenic, pathogenic	Intron variant
rs886042091	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042093	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042095	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042110	G>C,T	Likely-pathogenic, pathogenic	Intron variant
rs886042318	->GAGTGAGC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886042379	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042389	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042452	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042504	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042578	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042581	G>A	Pathogenic	Splice donor variant, non coding transcript variant
rs886042584	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042590	T>G	Pathogenic	Splice donor variant
rs886042617	T>C	Pathogenic	Splice donor variant
rs886042632	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042633	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886042635	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042636	G>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042641	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042680	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042827	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042878	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs886042879	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042951	T>C	Pathogenic	Splice donor variant
rs886042970	T>A	Pathogenic	Splice donor variant
rs886043145	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886043149	A>G	Pathogenic	Splice acceptor variant
rs886043170	G>A	Pathogenic	Splice acceptor variant
rs886043328	CA>-	Pathogenic	Splice acceptor variant, intron variant
rs886043342	C>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043489	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs886043884	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886043900	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886043901	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886043964	A>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs886043966	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886044131	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs886044258	G>A	Pathogenic	Splice donor variant
rs886044355	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044377	G>A	Likely-pathogenic	Splice donor variant
rs886044379	G>T	Pathogenic	Splice acceptor variant
rs886044381	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044386	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044390	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044410	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs886044411	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044422	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044537	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs909564120	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs934428561	A>G	Pathogenic	Splice acceptor variant
rs1023002894	G>A	Pathogenic	Intron variant
rs1024524968	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1027145211	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1057516051	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519132	T>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057521141	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064794020	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1064797253	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1131691651	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131692158	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1163488527	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1179051248	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1213965862	A>G	Likely-pathogenic	Splice acceptor variant
rs1230790473	C>G,T	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1236367931	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1259378167	A>G	Likely-pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1268594965	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1278864604	G>A	Likely-pathogenic	Splice donor variant
rs1285082850	C>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs1337417322	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1380642629	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1397221551	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1397263011	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1420930684	A>G	Pathogenic	Splice acceptor variant
rs1423123313	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1446214240	->GTT	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, inframe insertion
rs1451269647	A>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1456182703	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1459713589	T>C	Likely-pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1474151297	G>C	Pathogenic	Splice donor variant
rs1553370437	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553376538	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1553376558	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553376691	G>A	Likely-pathogenic	Splice donor variant
rs1553377740	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553377764	T>A	Likely-pathogenic	Splice donor variant
rs1553381945	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553383144	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553408378	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553412826	T>C	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1553414413	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553415109	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553415211	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553415233	T>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553416039	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553416197	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553420738	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553420848	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553422709	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553422723	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553495983	->CTAC	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553508863	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553518087	G>A	Likely-pathogenic	Splice acceptor variant
rs1553521017	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553521119	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522104	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522133	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522730	A>G	Likely-pathogenic	Splice acceptor variant
rs1553522751	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553525756	GC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553531682	A>C	Likely-pathogenic	Splice acceptor variant
rs1553535902	G>A	Pathogenic	Splice donor variant
rs1553536007	G>A	Likely-pathogenic	Splice donor variant
rs1553537332	G>-	Likely-pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1553541329	C>AA	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553542142	A>G	Pathogenic	Splice acceptor variant
rs1553542704	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553542773	->TTCT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553543506	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553551006	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553553888	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553553943	T>A	Pathogenic	Splice donor variant
rs1553555585	G>T	Likely-pathogenic	Splice donor variant
rs1553556116	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558513494	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558583697	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558613592	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558708492	G>A	Likely-pathogenic	Splice donor variant
rs1558750788	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558771348	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558783870	->CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558787893	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1558817973	GCCCAACATGA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1559021086	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1559053603	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559065297	A>G	Likely-pathogenic	Splice acceptor variant
rs1559079887	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559100639	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559109621	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559141367	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559162681	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1559177278	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572994572	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573009747	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1573094617	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1573094789	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1573100371	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1573138313	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573138336	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573671276	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573704236	G>C	Pathogenic	Intron variant
rs1573743003	GCTCAGGAGCGCATGAAGGAATCGTATTTGGTTTTCTTTGTAGCTGGAG>A	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs1573744795	->TTGCCGCAGAGTGC	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs1573928936	->TGGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573943246	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573949142	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574016452	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574097294	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574264671	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574277160	CAGCCAGCCGTCGGGG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574340403	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574340607	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574341049	G>-	Likely-pathogenic	Intron variant
rs1574354166	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574354515	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT949882	hsa-miR-1252	CLIP-seq
MIRT949883	hsa-miR-1275	CLIP-seq
MIRT949884	hsa-miR-3175	CLIP-seq
MIRT949885	hsa-miR-3940-5p	CLIP-seq
MIRT949886	hsa-miR-4434	CLIP-seq
MIRT949887	hsa-miR-4507	CLIP-seq
MIRT949888	hsa-miR-4516	CLIP-seq
MIRT949889	hsa-miR-4525	CLIP-seq
MIRT949890	hsa-miR-4665-5p	CLIP-seq
MIRT949891	hsa-miR-4723-5p	CLIP-seq
MIRT949892	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002280	Process	Monocyte activation involved in immune response	IEA
GO:0002280	Process	Monocyte activation involved in immune response	IMP	18276788
GO:0002281	Process	Macrophage activation involved in immune response	IEA
GO:0002281	Process	Macrophage activation involved in immune response	IMP	18276788
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	24239457
GO:0005515	Function	Protein binding	IPI	17185750, 23414517, 24687993, 32296183
GO:0005543	Function	Phospholipid binding	IDA	24239457
GO:0005544	Function	Calcium-dependent phospholipid binding	IMP	11959863
GO:0005768	Component	Endosome	IDA	20595382
GO:0005769	Component	Early endosome	IDA	20595382
GO:0005770	Component	Late endosome	IDA	20595382
GO:0005886	Component	Plasma membrane	IDA	20595382, 24239457, 26707827
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10496277
GO:0008289	Function	Lipid binding	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0030139	Component	Endocytic vesicle	IDA	20595382
GO:0030315	Component	T-tubule	IDA	17185750
GO:0030315	Component	T-tubule	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IDA	26707827
GO:0034451	Component	Centriolar satellite	IDA
GO:0034451	Component	Centriolar satellite	IEA
GO:0042383	Component	Sarcolemma	IDA	17185750
GO:0042383	Component	Sarcolemma	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0050765	Process	Negative regulation of phagocytosis	IEA
GO:0050765	Process	Negative regulation of phagocytosis	IMP	18276788
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 603009
• HGNC: 3097
• e!Ensembl: ENSG00000135636

Protein

• UniProt ID: O75923
• Protein name: Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1)
• Protein function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by me
• PDB: 4CAH, 4CAI, 4IHB, 4IQH, 7JOF, 7K6B, 7KRB, 9B8K, 9B8L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	1 → 103	C2 domain	Domain
  PF00168	C2	220 → 323	C2 domain	Domain
  PF08151	FerI	324 → 374	FerI (NUC094) domain	Domain
  PF00168	C2	379 → 496	C2 domain	Domain
  PF08165	FerA	695 → 759	FerA (NUC095) domain	Domain
  PF08150	FerB	786 → 859	FerB (NUC096) domain	Domain
  PF00168	C2	1152 → 1260	C2 domain	Domain
  PF00168	C2	1333 → 1439	C2 domain	Domain
  PF00168	C2	1578 → 1678	C2 domain	Domain
  PF00168	C2	1812 → 1944	C2 domain	Domain
  PF16165	Ferlin_C	1971 → 2075	Ferlin C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lo
• Sequence:

  MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLD
  QGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQ
  VSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGP
  GAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPV
  VKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE
  FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED
  KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFV
  EVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYL
  SMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYT
  ELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYS
  ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVV
  LSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGC
  SQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR
  ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPM
  EKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLT
  YPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRL
  PGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPP
  ERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFH
  LEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRP
  TISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWD
  QTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPL
  TRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
  VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNF
  DICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSP
  QGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFD
  TLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAI
  PMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIP
  CTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGL
  PQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPN
  PHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPP
  FNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRS
  LGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDD
  FLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKI
  LAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILW
  RRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS

• Sequence length: 2080

Pathways

Reactome:

Smooth Muscle Contraction

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy	rs369607332, rs1259378167, rs373585652, rs1574264671, rs886044379, rs398123767, rs1558708492, rs121908957, rs778092738, rs121908961, rs886039573, rs1474151297, rs1395588065, rs1553420848, rs140108514, rs1337417322, rs202218890, rs886043900, rs1553542142, rs886042389, rs757917335, rs141497053, rs1553556116, rs1553495983, rs758107024, rs886044381, rs771257070, rs1559053603, rs886042617, rs1553522751, rs1213965862, rs786205083, rs766891289, rs727503911, rs905322985, rs1057521141, rs1553555585, rs1553522133, rs398123794, rs1573100371, rs750028300, rs727503909, rs121908955, rs863225021, rs1278864604, rs398123768, rs1558771348, rs1553412826, rs121908963, rs199870606, rs727503910, rs370874727, rs1574097294, rs149827237, rs1553416025, rs886043964, rs786205084, rs786200896, rs766341386, rs28937581, rs398123800, rs1574341049, rs886044411, rs1553416039, rs398123770, rs753861836, rs768546511, rs1553531682, rs398123781, rs776472879, rs398123796, rs1573671276, rs763674597, rs398123763, rs151317754, rs1553408378, rs1553521017, rs1572994572, rs1559177278, rs1064794020, rs1456182703, rs886042951, rs1553422709, rs886042091, rs1285082850, rs398123782, rs758993965, rs398123797, rs398123764, rs786205082, rs150877497, rs1553522730, rs398123802, rs1573009747, rs747289205, rs769873428, rs1131692158, rs1559109621, rs1553535902, rs769721856, rs766936914, rs727503915, rs794727636, rs1573744795, rs1446214240, rs1573094789, rs886043966, rs1553377764, rs886042504, rs751473506, rs121908956, rs779987458, rs121908958, rs779969348, rs886044422, rs199954546, rs377735262, rs1558783870, rs1236367931, rs1553422723, rs786200897, rs886042093, rs201049092, rs398123786, rs1553521119, rs866823474, rs766433603, rs1553414413, rs398123765, rs756689063, rs121908959, rs139258703, rs971134497, rs1558613592, rs886042641, rs746243052, rs1553518087, rs786200898, rs886042110, rs199543257, rs766016391, rs756118312, rs398123787, rs863225020, rs773386253, rs398123799, rs1574277160, rs1553415211, rs1451269647, rs745891180, rs746315830, rs398123807, rs1057516051, rs1553543506, rs1574340607, rs1553541329, rs1574354515, rs1553536007, rs794727851, rs863225019, rs770905160, rs1573138336, rs886044377, rs202044973, rs886042578, rs1459713589, rs1380642629, rs1553376558, rs1023002894, rs1573704236, rs886042827, rs1573060017, rs778065845, rs1553537332, rs1420930684, rs756328339, rs746873768, rs200916654, rs753711667, rs909564120, rs886042584, rs1553522104, rs121908960, rs1553381945, rs201869739, rs762398889, rs1057519132, rs1574016452, rs398123789, rs1397263011, rs886042379, rs1553376691	N/A
Miyoshi Muscular Dystrophy	miyoshi muscular dystrophy 1	rs909564120, rs886042584, rs1553522104, rs727503912, rs1057519132, rs398123789, rs1573100371, rs727503909, rs121908955, rs369607332, rs398123767, rs121908957, rs886039573, rs756328339, rs398123777, rs1574097294, rs886042879, rs886043900, rs886042389, rs757917335, rs141497053, rs28937581, rs373585652, rs886044410, rs771257070, rs886042635, rs1553522751, rs766891289, rs759939755, rs1057521141, rs755849745, rs398123780, rs398123794, rs1573138313, rs750028300, rs1553521017, rs1558771348, rs886042951, rs1553412826, rs121908963, rs199870606, rs2092323164, rs370874727, rs1285082850, rs779407815, rs786200896, rs766341386, rs863225021, rs398123800, rs886044411, rs398123770, rs768546511, rs1553531682, rs727503910, rs1553370437, rs1573671276, rs886043966, rs763674597, rs151317754, rs1553408378, rs121908958, rs398123772, rs753861836, rs1553422709, rs886042091, rs398123782, rs758993965, rs398123797, rs398123764, rs150877497, rs2092340623, rs886042636, rs886043145, rs766936914, rs794727636, rs779987458, rs886042504, rs751473506, rs121908956, rs398123802, rs886044422, rs199954546, rs377735262, rs1236367931, rs1574340403, rs766433603, rs398123765, rs756689063, rs121908959, rs139258703, rs971134497, rs748542672, rs886043342, rs786200898, rs886042110, rs199543257, rs201049092, rs756118312, rs398123799, rs1553415211, rs1558513494, rs746315830, rs762398889, rs1057516051, rs398123773, rs886042318, rs121908953, rs794727851, rs398123787, rs886044377, rs202044973, rs1179051248, rs745891180, rs1380642629, rs758180890, rs1553415233, rs140108514, rs886042827, rs778065845, rs1553537332, rs786205081, rs1553556116	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Asthma	Asthma	N/A	N/A	GWAS
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Distal Myopathy With Anterior Tibial Onset	distal myopathy with anterior tibial onset	N/A	N/A	GenCC
Myopathy	myopathy	N/A	N/A	ClinVar
Peripheral Neuropathy	peripheral neuropathy	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	20544924
Alstrom Syndrome	Associate	26077327
Anemia Diamond Blackfan	Associate	24454878
Anterior Compartment Syndrome	Associate	19528035, 22318734, 26444858
Asthma	Associate	34510493
Bronchopulmonary Dysplasia	Associate	40244055
Carcinoma Hepatocellular	Associate	29385134
Cone Rod Dystrophies	Associate	26077327
Corneal Dystrophies Hereditary	Associate	20595382, 21412170, 28904177
Crohn Disease	Associate	31956234
Cytochrome c Oxidase Deficiency	Associate	27666772
Death	Associate	28470677
Disease	Associate	15677541
Distal Myopathies	Associate	27666772
Dysferlinopathy	Associate	12132520, 16608842, 16707852, 18974570, 19528035, 20544924, 20595382, 21173544, 21522182, 22194990, 22318734, 22468107, 22616201, 23243261, 23558685, 24438169, 25591676, 27229680, 27647186, 27666772, 29735511, 29879922, 31019989, 31250983, 31693312, 32683403, 33927379, 36319958, 36464789, 36542547, 39350328, 39511170, 39973465
Dysferlinopathy	Inhibit	28904177, 31861684, 33246442, 33518658
Glomerulonephritis Membranous	Associate	17132147, 20145676
Glycogen Storage Disease Type II	Associate	31931849
Immunologic Deficiency Syndromes	Inhibit	15515206
Immunologic Deficiency Syndromes	Associate	20595382
Inflammation	Associate	18832576, 23558685, 33246442
Limb girdle muscular dystrophy autosomal recessive	Associate	38110300
Limb girdle muscular dystrophy type 2B	Associate	15677541, 16707852, 17132147, 18495154, 18832576, 19528035, 20096397, 20145676, 21173544, 21522182, 21896784, 22318734, 23243261, 23406536, 25574751, 26045819, 26444858, 26916285, 27286750, 31019989, 32664072, 33031319, 33386810, 36012197
Lupus Erythematosus Systemic	Associate	35864995
Lymphedema Congenital Recessive	Associate	31931849
Mitochondrial Diseases	Associate	27666772
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	27666772
Miyoshi myopathy	Associate	15515206, 15677541, 16707852, 16891820, 17132147, 18832576, 19528035, 20096397, 20497525, 21173544, 21522182, 22318734, 23243261, 23406536, 26045819, 26444858, 28053302, 29209666, 31019989, 31250983, 34281941, 34465679, 36012197, 8808603
Mucocutaneous Lymph Node Syndrome	Associate	38427757
Multiple Sclerosis	Associate	37380766, 39493765
Muscle Neoplasms	Associate	25574751
Muscle Weakness	Associate	20667157, 32664072, 33246442, 35741838
Muscular Diseases	Associate	18495154, 20145676, 21522182, 22194990, 27229680, 27286750, 35239206
Muscular Dystrophies	Associate	16608842, 20595382, 20667157, 21522182, 22318734, 23558685, 24438169, 27229680, 31019989, 35790299
Muscular Dystrophies	Stimulate	21412170
Muscular Dystrophies Limb Girdle	Associate	16100969, 20544924, 26077327, 27142102, 32683403, 33031319, 33386810, 35239206, 37688281, 38110300, 8808603
Muscular Dystrophies Limb Girdle	Inhibit	22057634
Muscular Dystrophy Duchenne	Associate	38057384
Muscular Dystrophy Limb Girdle Type 1C	Associate	21412170
Myopathy Distal with Anterior Tibial Onset	Associate	20145676, 21522182, 26045819, 31019989, 36012197
Neoplasm Invasiveness	Associate	36604653
Neoplasms	Associate	35065254
Neoplasms	Inhibit	35790299
Nerve Degeneration	Associate	15677541
Neuroinflammatory Diseases	Associate	30836997
Neuromuscular Diseases	Associate	21896784
Neuromuscular Manifestations	Associate	29879922
Osteogenesis imperfecta type 2B	Associate	32664072, 32683403
Pancreatic Neoplasms	Associate	28470677
Plaque Amyloid	Associate	20544924
Pulmonary Disease Chronic Obstructive	Associate	20667157
Respiratory Distress Syndrome	Associate	37336980
Respiratory Paralysis	Associate	20667157
Retinal Dystrophies	Associate	33246442
Retinopathy of Prematurity	Associate	40244055
Rhabdomyolysis	Associate	32978841
Sarcoglycanopathies	Associate	26916285
Supranuclear Palsy Progressive	Associate	25706306
Thyroid Neoplasms	Associate	37854594