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.	4647
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin VIIA
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYO7A
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.5
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. T

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1052030	T>A,C	Benign, likely-pathogenic, pathogenic, likely-benign	Genic upstream transcript variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs28934610	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs35689081	C>A,T	Benign, pathogenic, likely-benign	Genic upstream transcript variant, stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs41298133	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs41298135	G>A,T	Pathogenic, benign-likely-benign, likely-benign	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs111033174	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033175	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs111033178	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033180	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs111033181	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033182	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs111033187	C>-,CC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033192	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs111033198	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs111033201	C>A,G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant, stop gained
rs111033202	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033206	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033214	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033215	G>A	Pathogenic, likely-pathogenic	Downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs111033227	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs111033232	CTT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion
rs111033233	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs111033238	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033239	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033250	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs111033252	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs111033259	AGATCATG>CA	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe indel
rs111033276	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs111033283	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033284	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033285	T>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs111033286	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033287	C>A,G,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant
rs111033290	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs111033337	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs111033347	A>-	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033376	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs111033389	G>A	Likely-pathogenic	Splice donor variant
rs111033390	->CA	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033403	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033404	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs111033415	A>G	Pathogenic	Splice acceptor variant
rs111033426	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs111033433	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs111033437	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033448	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033477	C>A,T	Pathogenic, benign, likely-benign, benign-likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs111033482	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033486	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033510	->AG	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033511	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs116892396	C>A,T	Benign, benign-likely-benign, likely-benign, likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs121965079	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs121965080	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965081	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965082	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965083	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121965084	A>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965085	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs139889944	G>A	Likely-benign, benign, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs142293185	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs187165412	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs192378817	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs199606180	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs199897298	G>T	Likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200848641	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201251963	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201539845	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201892914	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs367668576	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, synonymous variant
rs367687624	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs368341987	G>A	Benign, uncertain-significance, not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs368657015	T>C	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs368877140	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs369125667	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs369458838	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs369969967	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370740228	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371029653	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs372493678	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs372509310	G>A,C	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs373147966	G>A,T	Likely-benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs373169422	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs376535635	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs376688581	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs376764423	C>T	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs377267777	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs377388669	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs377670513	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs387906699	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906700	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516281	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516283	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs397516284	G>A	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, intron variant
rs397516285	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs397516290	->CAGCCA	Likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs397516291	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs397516294	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397516295	G>A,T	Pathogenic	Splice acceptor variant
rs397516301	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516303	AAGGACCTTTG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397516304	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397516305	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397516308	G>A	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, downstream transcript variant
rs397516310	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516312	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516315	T>A,G	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516316	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs397516317	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516320	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs397516321	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516322	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516323	T>C	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516324	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516326	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs397516327	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516330	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs397516331	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs397516332	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs527236085	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs530520654	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs548172627	G>A	Likely-pathogenic	Splice acceptor variant
rs564622720	T>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs570316231	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs606231379	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs727503329	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727504023	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs727504541	A>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs730880367	G>-,GG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, stop gained, downstream transcript variant
rs746667217	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, missense variant
rs747656448	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs748080151	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant, genic downstream transcript variant, missense variant
rs750358148	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs750647872	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs751242455	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751769391	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs754104546	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs755934966	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs757460257	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs760251968	TC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs760292207	C>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant, downstream transcript variant
rs761469964	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs766641715	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs767615975	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs768513428	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs768594224	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs773844428	C>T	Likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs773945008	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs775792432	G>A	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs776930594	G>A	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs781790246	C>A,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs781811444	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781951909	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs781988557	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781989117	G>A,T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs782063761	T>C	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs782064437	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs782077721	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs782131913	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs782163200	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs782166819	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782252317	G>A,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs782255281	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs782276748	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782292032	T>C,G	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs782350886	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782384464	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782396605	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782397746	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs782432573	C>A,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs782468194	G>A,C,T	Likely-pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant, intron variant
rs782539587	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs782598897	C>A,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs782661097	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs782694195	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs782787126	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant, 5 prime UTR variant
rs782808261	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044489	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs797044490	ATCC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs797044491	T>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs797044510	G>A	Pathogenic	Splice donor variant
rs797044511	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044512	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044513	TGCCCGGG>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs797044516	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044518	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant, 5 prime UTR variant
rs797044658	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs868979094	C>T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs869312181	T>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs876657415	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs876657416	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs876657417	T>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs876657654	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs876657655	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs876657712	G>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs876657713	ATTGCAGACAA>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs878853235	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853236	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853237	T>C	Pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs878853376	A>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs878853378	C>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs878864531	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs886037762	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs914189193	G>A	Likely-pathogenic	Splice donor variant
rs1057517774	C>G	Pathogenic, likely-pathogenic	Intron variant
rs1057517857	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057518040	T>A	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice donor variant
rs1057519225	->AC	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1060499651	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1060499716	G>A	Likely-pathogenic	Intron variant
rs1060499800	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1060499801	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs1060499802	C>T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1060499803	A>G	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs1064793208	->TCTACTCGCCA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064794012	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064796130	CTCA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131691833	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1171417339	G>A	Likely-pathogenic	Splice acceptor variant
rs1188637368	C>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1192104600	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1199012623	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1224819887	->A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1226046110	G>C	Likely-pathogenic	Splice donor variant
rs1253943370	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1268984037	G>A	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1279918132	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1296612982	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1299898646	C>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1324244950	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1338605788	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1343207038	G>C	Likely-pathogenic	Splice donor variant
rs1383147250	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1386887007	G>A,C	Pathogenic	Genic downstream transcript variant, intron variant
rs1397834886	CTTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1398609491	C>-	Pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1403288739	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1446588093	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1453053718	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs1472566324	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1472611150	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1479835169	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs1480697910	CAGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1485456037	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555051384	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1555051390	->G	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1555051455	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1555051567	GGATGATGAAGACAATGTGAGT>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, splice donor variant, genic upstream transcript variant
rs1555061466	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555062984	GACATC>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1555067598	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1555067667	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555069238	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555069242	GCTCTGCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555072299	A>G	Likely-pathogenic	Splice acceptor variant
rs1555076948	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1555078942	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555080760	AG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555082041	AGGTCTAACTTTC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant
rs1555082145	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs1555085978	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1555090168	A>G	Likely-pathogenic	Splice acceptor variant
rs1555090171	G>C	Pathogenic	Splice acceptor variant
rs1555090294	C>A,T	Uncertain-significance, likely-benign, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs1555090368	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555090885	G>C	Likely-pathogenic	Splice acceptor variant
rs1555091636	TGCTGACG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555092993	G>CC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555093028	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555095933	->A	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555096070	C>-	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555096223	C>-	Pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555099541	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100200	C>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100273	C>-	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs1555100315	CT>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100603	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100625	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555101858	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555102041	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555102147	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555102843	GAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, genic downstream transcript variant
rs1555103458	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555103532	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555105118	G>C	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1555105135	->G	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555105202	A>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555106609	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555107286	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555107555	->TCAC	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555109612	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1565402473	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1565430886	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565455391	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1565469959	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1591224147	G>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs1591277785	->CAGCC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1591286221	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591286671	->CGGGGAGACGGTG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591287317	->AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591310948	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1591369118	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591378140	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591467894	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591467918	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591470904	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591479405	->AG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591496649	->ATTA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1591514873	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant

Show/Hide all(22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018231	hsa-miR-335-5p	Microarray	18185580
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq
MIRT1170148	hsa-miR-1224-3p	CLIP-seq
MIRT1170149	hsa-miR-1260	CLIP-seq
MIRT1170150	hsa-miR-1260b	CLIP-seq
MIRT1170151	hsa-miR-1280	CLIP-seq
MIRT1170152	hsa-miR-3120-5p	CLIP-seq
MIRT1170153	hsa-miR-4287	CLIP-seq
MIRT1170154	hsa-miR-4469	CLIP-seq
MIRT1170155	hsa-miR-4527	CLIP-seq
MIRT1170156	hsa-miR-4685-3p	CLIP-seq
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq

Show/Hide all(83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	21687988
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IDA	8842737
GO:0001845	Process	Phagolysosome assembly	IEA
GO:0001917	Component	Photoreceptor inner segment	IDA	8842737
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11964381, 23023331
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IMP	15300860
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23704327
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	IDA	16001398
GO:0005829	Component	Cytosol	IDA	15300860
GO:0005856	Component	Cytoskeleton	IEA
GO:0005902	Component	Microvillus	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007040	Process	Lysosome organization	IDA	16001398
GO:0007040	Process	Lysosome organization	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0007600	Process	Sensory perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	7870171
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	7870171
GO:0007605	Process	Sensory perception of sound	IMP	7870171, 11398101
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030048	Process	Actin filament-based movement	IBA
GO:0030048	Process	Actin filament-based movement	IDA	21687988
GO:0030048	Process	Actin filament-based movement	IEA
GO:0030507	Function	Spectrin binding	IDA	23704327
GO:0031477	Component	Myosin VII complex	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042462	Process	Eye photoreceptor cell development	IC	8842737
GO:0042470	Component	Melanosome	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042490	Process	Mechanoreceptor differentiation	IEA
GO:0042490	Process	Mechanoreceptor differentiation	ISS
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043531	Function	ADP binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IDA	8842737
GO:0045202	Component	Synapse	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IMP	7870171
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	21687988
GO:0051875	Process	Pigment granule localization	IEA
GO:0051904	Process	Pigment granule transport	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060113	Process	Inner ear receptor cell differentiation	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0090596	Process	Sensory organ morphogenesis	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:0120044	Component	Stereocilium base	IEA
GO:0120044	Component	Stereocilium base	ISS
GO:1990435	Component	Upper tip-link density	IEA

MIM	HGNC	e!Ensembl
276903	7606	ENSG00000137474

Protein

UniProt ID

Q13402

Protein name

Unconventional myosin-VIIa

Protein function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina,

PDB

5MV9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00063	Myosin_head	67 → 729	Myosin head (motor domain)	Domain
PF00612	IQ	768 → 788	IQ calmodulin-binding motif	Motif
PF00612	IQ	814 → 834	IQ calmodulin-binding motif	Motif
PF00784	MyTH4	1151 → 1252	MyTH4 domain	Family
PF00784	MyTH4	1793 → 1895	MyTH4 domain	Family
PF00373	FERM_M	2006 → 2115	FERM central domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain. {ECO:0000269|PubMed:19643958, ECO:0000269|PubMed:21493626, ECO:0000269|Pu

Sequence

MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNEHWISPQNATHIKPMH
PTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIR
QYTNKKIGEMPPHIFAIADNCYFNMKRNSRDQCCIISGESGAGKTESTKLILQFLAAISG
QHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFNKRGAIEGAKIEQYLLEKS
RVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNYLAMGNCITCEGRVDSQEYAN
IRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFENLDACEVLFSPSLATAASLLE
VNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVDKINAAIYK
PPSQDVKNSRRSIGLLDIFGFENFAVNSFEQLCINFANEHLQQFFVRHVFKLEQEEYDLE
SIDWLHIEFTDNQDALDMIANKPMNIISLIDEESKFPKGTDTTMLHKLNSQHKLNANYIP
PKNNHETQFGINHFAGIVYYETQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMG
AETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSG
MMETIRIRRAGYPIRYSFVEFVERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQ
IGKTKIFLKDHHDMLLEVERDKAITDRVILLQKVIRGFKDRSNFLKLKNAATLIQRHWRG
HNCRKNYGLMRLGFLRLQALHRSRKLHQQYRLARQRIIQFQARCRAYLVRKAFRHRLWAV
LTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQER
LAQLAREDAERELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQE
GQAPSGFEDLERGRREMVEEDLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRR
PLKQPLLYHDDEGDQLAALAVWITILRFMGDLPEPKYHTAMSDGSEKIPVMTKIYETLGK
KTYKRELQALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKSKLTEEVTKRLHDGESTVQGN
SMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVG
CFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIML
PVTFMDGTTKTLLTDSATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVM
DAISQCEQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEY
RCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTYIPDREITPLKTLEKWAQLAIAAHK
KGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYF
VDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSC
RGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGE
ESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREI
VALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARG
KDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIF
EGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQS
RKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVES
STKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSVPENDFFFDFVRHLTDWIKKARPIK
DGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGAL
IYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAF
LKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNW
SSGNTYFHITIGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK

Sequence length

2215

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		The canonical retinoid cycle in rods (twilight vision)

Show/Hide Causal Diseases (9)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11	rs387906700, rs727503329, rs782063761, rs1565402473, rs397516326, rs782292032, rs782064437, rs1060499800, rs199897298, rs797044512, rs750358148, rs111033477, rs111033201, rs28934610, rs111033187 View all (59 more)	N/A
deafness	Deafness	rs1565430886, rs1565469959, rs746667217, rs781790246	N/A
hearing impairment	Hearing impairment	rs1485456037	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs199606180, rs111033187, rs1565402473, rs1565430886, rs797044491, rs111033284, rs750358148, rs782279338, rs1565469959, rs35689081, rs781951909, rs1199012623, rs1386887007, rs746667217, rs782539587 View all (5 more)	N/A
Meniere Disease	meniere disease	rs782787126	N/A
retinal dystrophy	Retinal dystrophy	rs782639389, rs878853378, rs111033233, rs1953075862, rs111033477, rs28934610, rs397516326, rs761469964, rs111033182, rs1064794012, rs397516281, rs397516323, rs111033178, rs1954927143, rs878853376 View all (34 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1591277785, rs35689081, rs527236085	N/A
Usher Syndrome	Usher syndrome type 1B, usher syndrome, usher syndrome type 1, usher syndrome type 2	rs782787126, rs368657015, rs111033178, rs869312181, rs111033201, rs797044491, rs1555095933, rs28934610, rs782077721, rs111033448, rs1060499716, rs760251968, rs797044511, rs121965083, rs397516332 View all (105 more)	N/A
hearing loss	Hearing loss	rs1064794012, rs199897298	N/A

Show/Hide Unknown Diseases (5)

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.
Cohen Syndrome	cohen syndrome	N/A	N/A	ClinVar
Lewy Body Disease	Lewy body disease	N/A	N/A	GWAS
Nonsyndromic Deafness	Nonsyndromic Hearing Loss, Dominant	N/A	N/A	ClinVar
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Pendred Syndrome	pendred syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	35422093
Cardiomyopathies	Associate	33835720
Cardiomyopathy Dilated	Associate	33835720
Deaf Blind Disorders	Associate	21031134, 33671976
Deafness	Associate	21031134, 23226338, 26011067, 27013738, 27344577, 27573290, 28660889, 29568747, 29692870, 33187236, 33671976, 33724713, 33976695, 34997062, 35106950, 36597107, 37996878 View all (2 more)
Deafness Autosomal Dominant 1	Associate	18518985, 18667942, 20132242, 36071244
Deafness Autosomal Recessive	Associate	29568747, 9150164
Deafness Autosomal Recessive 2	Associate	21031134, 28472130
Genetic Diseases Inborn	Associate	27013738, 40725401
Hearing Loss	Associate	16001398, 19888295, 20132242, 21378158, 23770805, 24105371, 24164807, 26001786, 27573290, 28281779, 29196752, 29568747, 29692870, 30123251, 30303587 View all (15 more)
Hearing Loss High Frequency	Associate	21378158
Hearing Loss Sensorineural	Associate	20146813, 27013738, 34391192, 34795337, 35779349
Hypertensive Retinopathy	Associate	21031134
Intellectual Disability	Associate	30872814
Keloid	Associate	25280642
Leber Congenital Amaurosis	Associate	21901789
Lung Neoplasms	Associate	35422093
Macular Edema	Associate	40725401
Melanoma	Associate	35085295
Meniere Disease	Associate	34391192
Mental Disorders	Associate	30872814, 38141656
Myopathies Nemaline	Associate	21873662
Neoplastic Syndromes Hereditary	Associate	24105371
Nonsyndromic Deafness	Associate	23226338, 26226137, 28472130, 31389194, 32864763, 36164746
Nonsyndromic sensorineural hearing loss	Associate	20132242, 23383098, 28472130, 30733538, 39967327
Nonsyndromic sensorineural hearing loss	Stimulate	26445815
Oculocerebrorenal Syndrome	Associate	21378158
Refsum Disease Infantile	Associate	33452396, 36460718
Retinal Degeneration	Associate	16001398, 23365660, 33507217
Retinal Diseases	Associate	21873662, 21901789
Retinal Dystrophies	Associate	37127645, 37165311, 40384762
Retinitis	Associate	16001398
Retinitis Pigmentosa	Associate	23882135, 32795431, 34391192, 34824372
Severe Acute Respiratory Syndrome	Associate	30733538
Sex Chromosome Disorders of Sex Development	Associate	33424767
Stomach Neoplasms	Associate	37215115
Strabismus	Associate	40725401
Syncope	Associate	33835720
Usher syndrome type 1B	Associate	11060213, 16679490, 17093394, 18700726, 20132242, 21031134, 21873662, 22681893, 23559863, 26001786, 26791358, 28472130, 31320737, 34391192, 36164746, 8825055, 8900236, 9382091 View all (3 more)
Usher Syndrome Type Ib	Associate	9070921
Usher Syndrome Type IF	Associate	18700726, 21873662, 23365660, 24831256, 38141656
Usher Syndromes	Associate	11060213, 15592175, 16001398, 17093394, 18700726, 21031134, 22219650, 22681893, 22690115, 23559863, 24618850, 24831256, 25211151, 25404053, 25558175 View all (19 more)
Usher Syndromes	Stimulate	23882135
Vestibular Diseases	Associate	34391192
Vision Disorders	Associate	21873662, 29142287

MYO7A (myosin VIIA)