Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4703
Gene name Gene Name - the full gene name approved by the HGNC.	Nebulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NEB
Synonyms (NCBI Gene) Gene synonyms aliases	AMC6, NEB177D, NEM2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein.

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SNP ID	Visualize variation	Clinical significance	Consequence
rs6709752	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs34532796	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs35654397	C>G,T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs74482326	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs77826191	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80344795	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs111293259	C>G,T	Pathogenic	Splice donor variant
rs111300270	C>A,T	Likely-pathogenic	Splice acceptor variant
rs112517981	C>A,G,T	Likely-pathogenic	Splice donor variant
rs112544116	C>A,G,T	Likely-pathogenic	Splice donor variant
rs113091511	C>G,T	Pathogenic	Splice donor variant
rs113326313	C>A,T	Likely-pathogenic	Splice acceptor variant
rs114089598	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs117178114	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs139798654	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, intron variant, missense variant
rs141155976	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, intron variant, missense variant
rs142540692	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143473183	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143644938	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs143933602	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, missense variant
rs144180493	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144595998	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs146616621	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147159176	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs148794372	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs149881695	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs182847302	C>T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs182866658	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs185433570	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs189623595	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs190336010	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs191579691	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs193042896	C>A,G,T	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant, intron variant, stop gained
rs199695976	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199756204	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199890298	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200251444	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200307392	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, intron variant, missense variant
rs200425929	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs200545007	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200624735	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs200719359	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200990309	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201141958	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201169452	A>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201462794	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201553266	C>T	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201636991	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs201707021	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs201962649	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202139330	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202234374	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs368075131	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs368230090	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs368625295	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370053963	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs370098540	G>A,C,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs371015050	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371265681	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373449008	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs373926259	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373946448	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs374562457	C>A,T	Likely-pathogenic	Splice donor variant
rs374874999	G>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant
rs375145370	T>C	Pathogenic, pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs375543045	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs375628303	C>A,G,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs375909006	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376199241	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs376511134	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs398124167	C>A,T	Pathogenic	Splice donor variant
rs398124172	CTCGTTTATTT>-	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs533027587	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs539819851	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs552379239	G>A,C	Likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs555516831	G>A,T	Uncertain-significance, pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs557870969	C>T	Likely-pathogenic	Splice donor variant
rs587780397	ATAAG>CTC	Pathogenic	Coding sequence variant, frameshift variant
rs587780399	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs727504033	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs745410848	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs745420110	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs746999970	C>T	Likely-pathogenic	Splice donor variant
rs749452641	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs750585238	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs750748717	C>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs752893483	T>C	Likely-pathogenic	Splice acceptor variant
rs753417634	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs754369875	G>A	Pathogenic	Coding sequence variant, stop gained
rs755531536	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs756352186	C>G,T	Likely-pathogenic	Splice donor variant
rs756363951	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs757726895	CTGTGCCAGAGCTGG>-,CTGTGCCAGAGCTGGCTGTGCCAGAGCTGG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs757882235	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760082702	C>A,G	Likely-pathogenic	Splice acceptor variant
rs761964375	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762278237	C>T	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant, intron variant
rs765403861	->ATAG	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs767302772	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs767693366	C>G	Likely-pathogenic	Splice acceptor variant
rs768708852	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs769345284	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs770192528	AGT>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs770797137	A>G	Likely-pathogenic	Splice donor variant
rs772366030	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs773482640	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs773952935	A>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs774495973	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs776569219	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs776982138	GA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs777819332	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs778593702	C>T	Pathogenic	Splice donor variant
rs779909544	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, intron variant
rs780022652	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs780343350	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs781185019	G>C	Pathogenic	Coding sequence variant, stop gained
rs781754253	T>C,G	Likely-pathogenic	Intron variant
rs786204430	A>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs786204576	AC>CA	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs797045735	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045736	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs878854368	GATT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886041851	C>T	Pathogenic	Splice acceptor variant, intron variant
rs886041998	A>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs886042141	TTCGGACGCGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043631	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886044005	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs928945364	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1057516348	CCT>GA	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1057516381	C>A	Likely-pathogenic	Splice acceptor variant
rs1057516676	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1057516739	ATCAC>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1057516758	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516938	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516996	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057517317	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517360	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517399	A>G	Likely-pathogenic	Splice donor variant
rs1057517977	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, stop gained, intron variant
rs1057518200	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057518353	T>C	Likely-pathogenic	Splice acceptor variant
rs1057524581	C>A,T	Likely-pathogenic	Splice donor variant
rs1064794461	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796311	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1131691547	C>T	Pathogenic	Splice donor variant, intron variant
rs1131691787	C>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1159756073	TA>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1180339426	AG>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1180407562	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1185654671	A>G	Likely-pathogenic	Splice donor variant
rs1197561990	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1212374733	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1220787593	C>T	Likely-pathogenic	Splice donor variant
rs1242775893	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1255445731	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs1259297878	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1319778592	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1336053002	C>A,T	Pathogenic	Intron variant, splice donor variant
rs1337287633	A>G	Likely-pathogenic	Splice donor variant
rs1340063197	TGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1342507012	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1371849916	C>T	Pathogenic	Splice acceptor variant
rs1373493309	G>A,C	Likely-pathogenic	Stop gained, intron variant, synonymous variant, coding sequence variant
rs1374971806	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1386238241	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1390379576	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1391372707	C>A,G	Pathogenic	Intron variant, stop gained, missense variant, coding sequence variant
rs1392500142	T>A,G	Pathogenic	Splice acceptor variant
rs1405498595	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1428597732	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs1443738549	C>T	Likely-pathogenic	Splice donor variant
rs1446930968	C>A,T	Likely-pathogenic	Splice donor variant
rs1458096844	C>A,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1460365350	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1475648900	G>A	Pathogenic	Coding sequence variant, stop gained
rs1490309743	CA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553448527	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553457607	T>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553468939	A>T	Likely-pathogenic	Splice donor variant
rs1553468960	C>-	Likely-pathogenic	Splice donor variant
rs1553469502	C>A	Likely-pathogenic	Splice acceptor variant
rs1553469514	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1553472127	C>T	Likely-pathogenic	Splice donor variant
rs1553484601	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553487838	AGCACTTACA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553495140	C>T	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1553501889	A>G	Likely-pathogenic	Splice donor variant
rs1553502168	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553512813	T>G	Likely-pathogenic	Splice acceptor variant
rs1553517128	C>T	Likely-pathogenic	Splice acceptor variant
rs1553517142	CT>TATA	Likely-pathogenic	Splice acceptor variant
rs1553531049	A>G	Likely-pathogenic	Splice donor variant
rs1553538835	C>-	Likely-pathogenic	Splice donor variant
rs1553539777	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553542669	C>T	Likely-pathogenic	Splice acceptor variant
rs1553548666	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553557405	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553558398	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553564693	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553565278	C>G	Likely-pathogenic	Splice acceptor variant
rs1553568167	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553579092	A>T	Likely-pathogenic	Splice donor variant
rs1553580540	T>C	Likely-pathogenic	Splice acceptor variant
rs1553586486	C>T	Likely-pathogenic	Splice donor variant
rs1553593177	C>T	Likely-pathogenic	Splice acceptor variant
rs1553601066	TA>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553603437	A>G	Pathogenic-likely-pathogenic	Splice donor variant
rs1553603933	TTTAACT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553603958	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1553605553	C>T	Likely-pathogenic	Splice donor variant
rs1553605995	C>T	Pathogenic	Splice acceptor variant
rs1553607505	T>C	Likely-pathogenic	Splice acceptor variant
rs1553608621	T>C	Likely-pathogenic	Splice acceptor variant
rs1553609515	T>C	Likely-pathogenic	Splice acceptor variant
rs1553642811	T>C	Likely-pathogenic	Splice acceptor variant
rs1553682994	C>T	Likely-pathogenic	Splice donor variant
rs1553686994	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553688242	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553689057	C>T	Likely-pathogenic	Splice donor variant
rs1553689774	CCTGCCCAA>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1553694860	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553695209	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553695557	C>T	Likely-pathogenic	Splice acceptor variant
rs1553710982	GCCAAATCCCTTCAGGACCTGCA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553711195	C>A	Likely-pathogenic	Splice donor variant
rs1553715579	C>G	Likely-pathogenic	Splice acceptor variant
rs1553717306	A>G	Likely-pathogenic	Splice donor variant
rs1553740233	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553755829	C>T	Likely-pathogenic	Splice acceptor variant
rs1553757097	CTGTTGTGTATTTGTCCTTAATCTGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553762626	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553763404	T>-	Likely-pathogenic	Splice acceptor variant
rs1553769576	C>G	Likely-pathogenic	Splice donor variant
rs1553770146	TACCT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553770178	CC>TT	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1553862061	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553862114	G>A,T	Pathogenic, likely-benign	Stop gained, intron variant, coding sequence variant, synonymous variant
rs1553862274	A>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553875421	A>C	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553877885	CT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553883480	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553886582	TTACTT>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553887191	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553891733	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553896522	AT>G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553901249	C>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553901624	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553904694	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553915731	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553930053	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553933986	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553934562	->TA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553934586	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553934597	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553938571	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939284	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939600	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939648	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553939660	->A	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553939774	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553939806	G>C	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553947423	C>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553948395	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553962493	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553963960	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553963973	T>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1553964158	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553983416	AC>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, inframe indel
rs1553990438	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1559039815	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559168230	TACGTCA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1559573882	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1560031341	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1560283028	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1560499498	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1574014358	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1574526903	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1574820458	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575122070	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1575295628	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs1575300582	T>C	Pathogenic	Splice acceptor variant
rs1575358650	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575668113	T>C	Likely-pathogenic	Splice acceptor variant
rs1576517390	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1576600442	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576695735	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576704575	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576819152	C>T	Likely-pathogenic	Splice donor variant
rs1577244250	AGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577253760	G>A	Pathogenic	Stop gained, coding sequence variant
rs1577548638	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577576425	TAGACAA>-	Likely-pathogenic	Intron variant
rs1577636079	A>G	Likely-pathogenic	Splice donor variant
rs1577833924	C>T	Likely-pathogenic	Splice donor variant
rs1577886635	G>A	Pathogenic	Stop gained, coding sequence variant
rs1577890764	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578009926	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578011278	GCGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578868550	C>T	Likely-pathogenic	Splice donor variant, intron variant

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments
MIRT1179288	hsa-miR-2392	CLIP-seq
MIRT1179289	hsa-miR-4428	CLIP-seq
MIRT1179290	hsa-miR-548aa	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12482578, 16902413, 18639526, 23414517, 23615443, 23985323, 30986853
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007517	Process	Muscle organ development	TAS	7739042
GO:0007525	Process	Somatic muscle development	NAS	7739042
GO:0008307	Function	Structural constituent of muscle	TAS	7739042
GO:0015629	Component	Actin cytoskeleton	TAS	7739042
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	9501083
GO:0030018	Component	Z disc	IEA
GO:0030832	Process	Regulation of actin filament length	NAS	7739042
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071691	Process	Cardiac muscle thin filament assembly	IBA

MIM	HGNC	e!Ensembl
161650	7720	ENSG00000183091

Protein

UniProt ID

P20929

Protein name

Nebulin

Protein function

This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

PDB

1ARK , 1NEB , 6Y17

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00880	Nebulin	154 → 180	Nebulin repeat	Repeat
PF00880	Nebulin	188 → 215	Nebulin repeat	Repeat
PF00880	Nebulin	258 → 284	Nebulin repeat	Repeat
PF00880	Nebulin	368 → 395	Nebulin repeat	Repeat
PF00880	Nebulin	507 → 534	Nebulin repeat	Repeat
PF00880	Nebulin	542 → 569	Nebulin repeat	Repeat
PF00880	Nebulin	578 → 605	Nebulin repeat	Repeat
PF00880	Nebulin	616 → 643	Nebulin repeat	Repeat
PF00880	Nebulin	789 → 816	Nebulin repeat	Repeat
PF00880	Nebulin	825 → 852	Nebulin repeat	Repeat
PF00880	Nebulin	863 → 890	Nebulin repeat	Repeat
PF00880	Nebulin	929 → 957	Nebulin repeat	Repeat
PF00880	Nebulin	1069 → 1096	Nebulin repeat	Repeat
PF00880	Nebulin	1107 → 1134	Nebulin repeat	Repeat
PF00880	Nebulin	1242 → 1269	Nebulin repeat	Repeat
PF00880	Nebulin	1313 → 1340	Nebulin repeat	Repeat
PF00880	Nebulin	1351 → 1378	Nebulin repeat	Repeat
PF00880	Nebulin	1520 → 1550	Nebulin repeat	Repeat
PF00880	Nebulin	1595 → 1622	Nebulin repeat	Repeat
PF00880	Nebulin	1765 → 1793	Nebulin repeat	Repeat
PF00880	Nebulin	1801 → 1828	Nebulin repeat	Repeat
PF00880	Nebulin	1839 → 1866	Nebulin repeat	Repeat
PF00880	Nebulin	1974 → 2001	Nebulin repeat	Repeat
PF00880	Nebulin	2009 → 2037	Nebulin repeat	Repeat
PF00880	Nebulin	2083 → 2110	Nebulin repeat	Repeat
PF00880	Nebulin	2253 → 2281	Nebulin repeat	Repeat
PF00880	Nebulin	2327 → 2354	Nebulin repeat	Repeat
PF00880	Nebulin	2461 → 2488	Nebulin repeat	Repeat
PF00880	Nebulin	2496 → 2523	Nebulin repeat	Repeat
PF00880	Nebulin	2570 → 2597	Nebulin repeat	Repeat
PF00880	Nebulin	2739 → 2766	Nebulin repeat	Repeat
PF00880	Nebulin	2813 → 2840	Nebulin repeat	Repeat
PF00880	Nebulin	2982 → 3009	Nebulin repeat	Repeat
PF00880	Nebulin	3056 → 3083	Nebulin repeat	Repeat
PF00880	Nebulin	3225 → 3252	Nebulin repeat	Repeat
PF00880	Nebulin	3261 → 3287	Nebulin repeat	Repeat
PF00880	Nebulin	3365 → 3392	Nebulin repeat	Repeat
PF00880	Nebulin	3433 → 3460	Nebulin repeat	Repeat
PF00880	Nebulin	3468 → 3495	Nebulin repeat	Repeat
PF00880	Nebulin	3504 → 3530	Nebulin repeat	Repeat
PF00880	Nebulin	3542 → 3569	Nebulin repeat	Repeat
PF00880	Nebulin	3676 → 3703	Nebulin repeat	Repeat
PF00880	Nebulin	3711 → 3738	Nebulin repeat	Repeat
PF00880	Nebulin	3747 → 3774	Nebulin repeat	Repeat
PF00880	Nebulin	3849 → 3878	Nebulin repeat	Repeat
PF00880	Nebulin	3919 → 3946	Nebulin repeat	Repeat
PF00880	Nebulin	3954 → 3981	Nebulin repeat	Repeat
PF00880	Nebulin	3989 → 4016	Nebulin repeat	Repeat
PF00880	Nebulin	4091 → 4120	Nebulin repeat	Repeat
PF00880	Nebulin	4405 → 4432	Nebulin repeat	Repeat
PF00880	Nebulin	4615 → 4641	Nebulin repeat	Repeat
PF00880	Nebulin	4860 → 4887	Nebulin repeat	Repeat
PF00880	Nebulin	5247 → 5274	Nebulin repeat	Repeat
PF00880	Nebulin	5317 → 5344	Nebulin repeat	Repeat
PF00880	Nebulin	5387 → 5414	Nebulin repeat	Repeat
PF00880	Nebulin	5422 → 5449	Nebulin repeat	Repeat
PF00880	Nebulin	5457 → 5484	Nebulin repeat	Repeat
PF00880	Nebulin	5633 → 5659	Nebulin repeat	Repeat
PF00880	Nebulin	5668 → 5697	Nebulin repeat	Repeat
PF00880	Nebulin	5777 → 5803	Nebulin repeat	Repeat
PF00880	Nebulin	5845 → 5875	Nebulin repeat	Repeat
PF00880	Nebulin	5883 → 5912	Nebulin repeat	Repeat
PF00880	Nebulin	5918 → 5946	Nebulin repeat	Repeat
PF00880	Nebulin	5956 → 5983	Nebulin repeat	Repeat
PF00880	Nebulin	5992 → 6020	Nebulin repeat	Repeat
PF00880	Nebulin	6030 → 6057	Nebulin repeat	Repeat
PF00880	Nebulin	6065 → 6092	Nebulin repeat	Repeat
PF00880	Nebulin	6135 → 6158	Nebulin repeat	Repeat
PF00880	Nebulin	6167 → 6188	Nebulin repeat	Repeat
PF00880	Nebulin	6229 → 6251	Nebulin repeat	Repeat
PF00880	Nebulin	6260 → 6282	Nebulin repeat	Repeat
PF00880	Nebulin	6291 → 6313	Nebulin repeat	Repeat
PF00880	Nebulin	6322 → 6344	Nebulin repeat	Repeat
PF00880	Nebulin	6352 → 6378	Nebulin repeat	Repeat
PF00880	Nebulin	6384 → 6409	Nebulin repeat	Repeat
PF00880	Nebulin	6419 → 6446	Nebulin repeat	Repeat
PF14604	SH3_9	6617 → 6667	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level) (PubMed:23985323). Located in the thin filament of striated muscle (PubMed:9514727). {ECO:0000269|PubMed:23985323, ECO:0000269|PubMed:9514727}.

Sequence

MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQP
ASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTP
ELRRIKKVQDQLSEVKYRMDGDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTK
DKYLLPPDAPELVQAVKNTAMFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDV
AYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKEDYEKNKGKAD
YNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDK
KYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYE
AIKKLDQCKDHTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIP
PDTPAFIQHKVNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYCETPKYQLDTQ
LKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQNSDKSYKAEYEEDKGKCYFPQ
TITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSDLNYKAKHEGE
KFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTS
DVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCG
WVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAK
GEEIIHKYNLPPDLPQFIQAKVNAYNISENMYKADLKDLSKKGYDLRTDAIPIRAAKAAR
QAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTP
HDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDIL
YKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAA
KASRNIASDYKYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTS
YHTPGDMVSITAAKMAQDVATNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEY
NSFLKGIGWIPIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAKGYDLRPDAIP
IVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQSDREYKKGYEA
SKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLY
KSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSN
KLNMDKRLYTEKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKK
GYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTYNMLPDAMSFELAKNMMQIQS
DNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKYRQHPDTLKYSTLMDSMNMVL
AQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGY
DLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMN
RIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSM
DMVLAKQNAHTMNKHLYTIDWNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEAL
KKGYDLPVDAISVQLAKASRDIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKM
QSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQPPDRNKFTSIP
DAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYE
ELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHV
AKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDV
IHARQAYDLQSDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNKVNYSEKLYKL
GLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRKQLGHHIGARAIRDDPKMMWS
MHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQ
SDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRF
KFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKM
MWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCL
PDQNDVIHARQAYDLQSDNIYKSDLQWLRGIGWVPIGSMDVVKCKRAAEILSDNIYRQPP
DKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYS
ESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEW
ICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYR
QRPETLKFTSITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRI
NYSDKLYKLALEESKKEGYDLRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNI
KDDPKMMWSIHVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKVKRAGEILSDR
KYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMPDTPDILLAKS
NSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGA
QSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYR
NYLHEWTCMPDQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINL
ARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASREIASDYKYKLDHEKQKGHYV
GTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSPVDMLSILHSKNSQALVSDMD
YRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAAD
IFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGH
YVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSD
IDYRNYLHQWMCHPDQNDVIQARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKN
QEMMSQIKYKKNALENYPNFRSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPD
TPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDMMNHVLAKRCQ
YILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQIL
HAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKY
TTVLETVDYDRTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKY
REEYEKFKALYTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNWLKGIGCYVWD
TPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYVQAVKSGKQLSDAVYHYDYVH
SVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHFKHIKDTRYMS
SYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPE
IRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELV
YRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAK
DVKDMVSEKKYKIQYEKMKDKYTPVPDTPILIRAKRAYWNASDLRYKETFQKTKGKYHTV
KDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDL
TWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPE
HLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNK
SNCTIEPDAVHIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDF
EYKLDREFLKGCKLSVTDDKNTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLA
KTVSNLVSENKYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQAAKQASEVEY
RAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYNPKDSQLYKVM
KDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHT
IPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKD
YEESIKGRNLTGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANF
TSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLDTPEIQRVRENQKNFSLLQYQ
CDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSPGTAIGKTPEMMRVKQTQDHI
SSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQE
NFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHN
QENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVK
RNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDT
PEMRRVRETQRHISTVKYHEDFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKV
VEMEQKRNDQDQETITGLRVWRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRS
ASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTT
VSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYGTVQRTGRTGM
LPANYVEAI

Sequence length

6669

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Striated Muscle Contraction

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita 6	rs747179265, rs1553603958, rs772009599, rs1197561990, rs1428597732, rs781667543, rs1553603437, rs1257495033, rs773952935, rs537560378, rs928945364, rs375628303, rs2097886912, rs1366853918, rs1553603400 View all (115 more)	N/A
Nemaline myopathy	nemaline myopathy 2	rs1574820458, rs2097886912, rs1366853918, rs1057517317, rs866309952, rs1559580467, rs1553603400, rs1392500142, rs797045735, rs1472403020, rs1553468960, rs1553561665, rs1574772311, rs1559168230, rs2099191297 View all (337 more)	N/A
nemaline myopathy	Nemaline myopathy	rs754369875, rs1344099907, rs375628303, rs1185654671, rs555516831, rs398124167, rs1057518200, rs934111355, rs113091511, rs1330332139, rs780022652, rs755531536, rs748922882, rs767709270, rs786204430 View all (81 more)	N/A
Nonimmune Hydrops Fetalis	non-immune hydrops fetalis	rs769345284	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital Nemaline Myopathy	severe congenital nemaline myopathy	N/A	N/A	GenCC
Distal Myopathy	Nebulin-related early-onset distal myopathy	N/A	N/A	ClinVar
Lethal Multiple Pterygium Syndrome	lethal multiple pterygium syndrome	N/A	N/A	GenCC
Peripheral Neuropathy	peripheral neuropathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Actin Accumulation Myopathy	Associate	30057997
Bicuspid Aortic Valve Disease	Associate	36071494
Colonic Neoplasms	Associate	33428592
Disease	Associate	31127036
Distal Myopathies	Associate	23443021
Endometrial Neoplasms	Inhibit	22949810
Fetal akinesia syndrome X linked	Associate	32779773
Intervertebral Disc Degeneration	Associate	10051637
Leukemia	Associate	20362230
Light Fixation Seizure Syndrome	Associate	29792937
Lymphoma Follicular	Associate	27750045
Multiple Myeloma	Associate	25743686
Muscle Weakness	Associate	21350120, 21357678, 23443021, 23572184, 30057997, 36233295
Muscular Diseases	Associate	21350120, 27854218
Muscular Dystrophies	Associate	29792937
Muscular Dystrophy Duchenne	Associate	3288996, 3292289
Myopathies Nemaline	Associate	10051637, 19232495, 19838523, 22281206, 23443021, 23572184, 24725366, 26197980, 30040739, 30356055, 30467404, 30517146, 31127036, 33397769, 33742414 View all (6 more)
Myopathy Central Core	Associate	23443021, 30057997
Myotonia Congenita	Associate	21350120, 23826317, 35576196
Nemaline Myopathy 2	Associate	27346006, 27346010, 27346011, 32062132
Neoplasm Metastasis	Associate	38492821
Neoplasms	Associate	25748235, 38049758
Neuromuscular Diseases	Associate	26578207, 30040739, 32403337
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27750045
Respiratory Paralysis	Associate	34776486
Respiratory Tract Infections	Associate	34776486
Squamous Cell Carcinoma of Head and Neck	Associate	37340028
Strabismus	Associate	28391287
Testicular Germ Cell Tumor	Associate	25748235
Triple Negative Breast Neoplasms	Associate	38049758

NEB (nebulin)