ABCA4 (ATP binding cassette subfamily A member 4)

Gene

• Entrez ID: 24
• Gene name: ATP binding cassette subfamily A member 4
• Gene symbol: ABCA4
• Synonyms: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
• Chromosome: 1
• Chromosome location: 1p22.1
• Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1047376	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1762111	A>G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1800548	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1800552	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1800553	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, missense variant
rs1800555	C>T	Likely-benign, risk-factor, benign-likely-benign	Coding sequence variant, missense variant
rs1800728	A>G	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant
rs1801269	C>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1801466	T>A	Likely-benign, benign, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1801581	C>A,T	Likely-benign, benign, likely-pathogenic, pathogenic, not-provided, risk-factor	Coding sequence variant, missense variant
rs28938473	G>A	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs41292677	C>G	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs55732384	G>A	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, missense variant
rs56357060	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs58331765	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs61748520	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs61748526	A>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748529	T>C,G	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant
rs61748534	T>A,C	Pathogenic, not-provided	Splice acceptor variant
rs61748535	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61748536	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs61748537	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61748538	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748539	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs61748545	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61748548	A>C,G	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs61748550	G>A	Pathogenic	Stop gained, coding sequence variant
rs61748552	G>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748556	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61748558	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61748559	C>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749409	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61749410	C>T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749412	C>A,G,T	Not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61749414	G>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs61749417	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61749420	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61749422	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs61749423	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61749427	C>A,G	Pathogenic, not-provided	Splice donor variant
rs61749428	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749429	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749433	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749437	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs61749438	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61749440	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61749441	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61749448	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61749450	G>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749451	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749454	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61749455	C>A,G,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61749456	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs61749457	T>C	Pathogenic	Missense variant, coding sequence variant
rs61749459	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61750061	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61750064	->AC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61750065	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61750120	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750121	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750126	A>C	Conflicting-interpretations-of-pathogenicity, pathogenic, not-provided, likely-benign, benign	Missense variant, coding sequence variant
rs61750130	G>A	Pathogenic-likely-pathogenic, pathogenic, risk-factor	Missense variant, coding sequence variant
rs61750135	A>G	Pathogenic, other	Missense variant, coding sequence variant
rs61750137	G>A	Pathogenic	Stop gained, coding sequence variant
rs61750138	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs61750141	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750142	C>T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750145	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750146	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750147	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750152	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750155	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750159	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750200	G>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750202	C>G,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750560	A>C	Pathogenic	Missense variant, coding sequence variant
rs61750562	A>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs61750563	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61750564	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750566	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750569	CCACCAGCCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750571	C>T	Pathogenic	Stop gained, coding sequence variant
rs61750633	A>G	Uncertain-significance, not-provided, likely-pathogenic	Intron variant
rs61750638	C>A,T	Not-provided, pathogenic	Splice donor variant
rs61750639	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750641	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750643	G>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750644	T>A	Pathogenic	Stop gained, coding sequence variant
rs61750645	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs61750646	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61750648	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750654	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs61750658	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61751262	C>T	Pathogenic	Intron variant
rs61751263	C>T	Pathogenic, not-provided	Splice acceptor variant
rs61751374	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751377	C>T	Pathogenic	Splice donor variant
rs61751383	G>A	Pathogenic	Stop gained, coding sequence variant
rs61751384	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751385	A>C	Not-provided, pathogenic	Splice donor variant
rs61751386	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61751388	C>A	Pathogenic, not-provided	Splice donor variant
rs61751389	C>-	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61751392	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751393	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751394	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61751395	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751397	G>A	Pathogenic	Stop gained, coding sequence variant
rs61751398	C>A,T	Pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs61751399	C>T	Pathogenic-likely-pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751400	C>T	Not-provided, pathogenic	Splice donor variant
rs61751401	GT>-,GTGT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61751402	C>T	Pathogenic	Missense variant, coding sequence variant
rs61751403	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs61751404	G>A,C	Pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs61751405	A>C,G	Not-provided, pathogenic	Splice donor variant
rs61751406	G>T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61751407	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, not-provided	Intron variant
rs61751408	G>A	Pathogenic	Missense variant, coding sequence variant
rs61751409	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs61751410	C>T	Pathogenic	Stop gained, coding sequence variant
rs61751412	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61751413	C>T	Pathogenic	Splice donor variant
rs61751418	C>A,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs61751420	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61752390	A>C,G,T	Not-provided, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs61752391	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61752398	A>C,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61752401	C>T	Pathogenic	Splice donor variant
rs61752406	C>T	Pathogenic	Stop gained, coding sequence variant
rs61752410	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs61752411	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs61752416	T>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752417	C>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61752419	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61752423	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61752424	G>A	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs61752425	C>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61752427	G>A	Pathogenic	Stop gained, coding sequence variant
rs61752435	T>C	Pathogenic	Splice acceptor variant
rs61752438	T>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs61752439	C>G,T	Not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61753017	G>A,C	Likely-benign, not-provided, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs61753019	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs61753020	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753021	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753028	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753030	C>A,G,T	Not-provided, pathogenic	Splice donor variant
rs61753033	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61753034	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61753037	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753038	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs61753043	G>C	Not-provided, pathogenic	Splice donor variant
rs61753045	G>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61753046	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs61754024	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs61754030	T>C	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs61754044	G>A	Pathogenic, likely-pathogenic	Intron variant
rs62642560	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs62642562	G>A,C,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs62642564	C>G,T	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic-likely-pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs62642565	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62642573	C>A,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, stop gained, coding sequence variant
rs62642574	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs62642575	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs62642576	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs62645944	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant
rs62645946	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62645948	->T	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs62645952	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62645957	C>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62645958	C>T	Likely-benign, not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62646860	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs62646861	G>A	Not-provided, pathogenic	Stop gained, coding sequence variant
rs62646862	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs62646863	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs62646872	GCAGATGGCAACCAC>-	Not-provided, pathogenic	Inframe deletion, coding sequence variant
rs62654395	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs62654397	G>A,C	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs63749055	GCACCGTCTTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749083	ATAGTTATTGTCTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs76157638	C>G,T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs112005636	A>G,T	Likely-pathogenic	Splice donor variant
rs113106943	C>T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113698006	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114518437	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs117400594	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121909204	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909205	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121909206	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909207	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138475920	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs138682163	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs140482171	C>T	Not-provided, likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs141823837	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs142253670	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142506651	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144310835	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145483148	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145525174	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs145961131	G>A	Pathogenic	Coding sequence variant, stop gained
rs146786552	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147884766	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs148460146	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs149071415	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs150774447	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs187953772	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs187965758	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs188775667	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190540405	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs200692438	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs200967229	C>T	Pathogenic	Splice donor variant
rs201117452	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201223321	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201471607	T>C	Pathogenic	Missense variant, coding sequence variant
rs201738997	T>C	Pathogenic	Initiator codon variant, missense variant
rs201855602	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs281865377	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs281865382	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs281865402	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs367839100	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs367857935	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs368846708	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs371489809	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs374343397	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs376925793	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs377311148	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs387906385	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs387906387	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs387906388	GAGAAACCCTTAGACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123339	T>C	Pathogenic	Splice acceptor variant
rs527236129	T>A	Pathogenic	Coding sequence variant, missense variant
rs552517556	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs568792949	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs575453437	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs745654673	C>T	Likely-pathogenic	Splice donor variant
rs746250336	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746252741	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs746541266	G>A	Pathogenic	Stop gained, coding sequence variant
rs746566873	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs747950242	CAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs748357067	C>T	Pathogenic	Stop gained, coding sequence variant
rs748706582	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs749526785	GCCCCAGGGCCAACT>-	Uncertain-significance, likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Intron variant
rs752147871	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs752160946	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752786160	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs755733328	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs756840095	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs757557272	T>A,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs758835368	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs759672616	T>C	Pathogenic, uncertain-significance	Intron variant
rs760549861	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs760790294	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs761188244	G>A	Likely-pathogenic	Intron variant
rs761209432	C>T	Pathogenic	Coding sequence variant, stop gained
rs762150575	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs764759172	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs765429911	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs765707028	C>G	Pathogenic	Splice donor variant
rs766570903	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs767729255	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs768278935	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs773599043	C>A,T	Pathogenic	Splice donor variant
rs774475956	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs776757706	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777415466	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778234759	C>T	Likely-pathogenic	Intron variant
rs778747291	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs778908435	C>G,T	Pathogenic	Splice acceptor variant
rs779426136	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs779466403	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs779743222	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs781254854	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786205445	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205446	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205447	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs793888523	->TTTC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794726979	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727531	G>A	Pathogenic	Coding sequence variant, stop gained
rs794727903	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223338	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs865990202	C>T	Pathogenic	Coding sequence variant, stop gained
rs869312184	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs869320785	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs878853396	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs878853397	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039299	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039882	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886041554	C>A	Pathogenic	Initiator codon variant, missense variant
rs886041951	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886042034	T>A	Pathogenic	Splice acceptor variant
rs886042319	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042320	AATTCTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042904	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044148	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044719	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044720	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044721	A>G	Pathogenic	Splice donor variant
rs886044722	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044725	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044726	T>C	Pathogenic	Splice acceptor variant
rs886044727	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044728	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044730	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044731	T>A	Pathogenic	Coding sequence variant, stop gained
rs886044732	A>C	Pathogenic	Coding sequence variant, missense variant
rs886044735	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044736	->TGCA	Pathogenic	Frameshift variant, coding sequence variant
rs886044737	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs886044738	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044740	C>G,T	Pathogenic	Splice acceptor variant
rs886044741	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886044742	C>A	Pathogenic	Coding sequence variant, stop gained
rs886044745	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044746	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886044747	C>T	Pathogenic	Coding sequence variant, stop gained
rs886044750	C>T	Pathogenic	Splice donor variant
rs886044751	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886044752	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044753	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044755	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044756	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044758	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044759	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886044760	TG>CT	Pathogenic	Splice acceptor variant, intron variant
rs886044761	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886044762	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886044763	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs886044764	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886046564	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs911580078	C>T	Pathogenic	Coding sequence variant, stop gained
rs951379922	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1012017728	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517700	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517701	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517869	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057518767	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518955	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057520212	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520213	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793004	C>G	Likely-pathogenic	Intron variant
rs1064793005	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064793006	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793007	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793008	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793009	A>T	Likely-pathogenic	Intron variant
rs1064793010	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793011	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793012	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793013	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs1064793014	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793015	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797091	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797113	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs1085307968	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691262	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691351	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691612	A>C,T	Pathogenic	Stop gained, coding sequence variant
rs1161119501	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1232476760	C>A,T	Likely-pathogenic	Splice donor variant
rs1267585230	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1297857869	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1356104318	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1373168392	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1401924846	C>T	Pathogenic	Splice acceptor variant
rs1435203678	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1437993640	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1457937638	C>A,T	Likely-pathogenic	Intron variant
rs1553186509	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553186896	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553187160	C>A	Pathogenic	Splice acceptor variant
rs1553187162	T>-	Pathogenic	Splice acceptor variant
rs1553187228	TGTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553187939	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553188071	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553188588	C>T	Likely-pathogenic	Intron variant
rs1553188682	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553188916	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553189507	C>T	Likely-pathogenic	Splice acceptor variant
rs1553190559	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553190664	A>C	Pathogenic	Coding sequence variant, stop gained
rs1553192432	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553192682	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553192715	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553192726	G>T	Pathogenic	Coding sequence variant, stop gained
rs1553193813	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1553195472	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553196583	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557767754	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557783989	A>G	Pathogenic	Splice donor variant
rs1557787473	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1557787559	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557787756	G>A	Pathogenic	Stop gained, coding sequence variant
rs1570367144	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570367230	A>T	Pathogenic	Stop gained, coding sequence variant
rs1570370826	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1570370929	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570373408	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570377861	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570380080	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570382663	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570386206	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570387558	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570393727	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570393848	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1570394071	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570407032	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570433137	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571239957	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571241930	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571241947	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571242070	C>T	Pathogenic	Coding sequence variant, missense variant
rs1571243037	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571245809	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571250020	CGGCCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1571252997	C>G	Pathogenic	Coding sequence variant, missense variant
rs1571253050	ACAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571256775	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571257754	GTAAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571257937	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1571258440	AAAAAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1571264551	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571264574	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571265125	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571265241	GG>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017969	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0005215	Function	Transporter activity	TAS	9054934
GO:0005319	Function	Lipid transporter activity	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	24097981
GO:0005887	Component	Integral component of plasma membrane	IEA
GO:0006649	Process	Phospholipid transfer to membrane	IEA
GO:0006869	Process	Lipid transport	IBA	21873635
GO:0007601	Process	Visual perception	IEA
GO:0007603	Process	Phototransduction, visible light	TAS	9202155
GO:0016020	Component	Membrane	TAS	9054934
GO:0016887	Function	ATPase activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045332	Process	Phospholipid translocation	IDA	24097981
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IDA	24097981
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA	21873635
GO:0140327	Function	Flippase activity	IDA	24097981
GO:0140347	Function	N-retinylidene-phosphatidylethanolamine flippase activity	IEA

Other IDs

• MIM: 601691
• HGNC: 34
• e!Ensembl: ENSG00000198691

Protein

• UniProt ID: P78363
• Protein name: Retinal-specific phospholipid-transporting ATPase ABCA4 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM protein) (RmP) (Retinal-specific ATP-binding cassette transporter) (Stargardt disease protein)
• Protein function: Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.
• PDB: 7LKP, 7LKZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12698	ABC2_membrane_3	607 → 856		Family
  PF00005	ABC_tran	946 → 1090	ABC transporter	Domain
  PF12698	ABC2_membrane_3	1595 → 1895		Family
  PF00005	ABC_tran	1955 → 2099	ABC transporter	Domain

• Sequence:

  MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA
  MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ
  HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL
  LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI
  EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT
  RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY
  SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE
  LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN
  FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS
  LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED
  FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV
  LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM
  HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF
  AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM
  QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL
  TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA
  FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV
  AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA
  KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC
  SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV
  LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS
  SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC
  SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP
  ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF
  GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP
  ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI
  SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN
  NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA
  VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG
  LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL
  FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR
  FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD
  VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT
  TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR
  GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG
  MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK
  FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ
  LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD

• Sequence length: 2273