No paralogue variants have been mapped to residue 1612 for SCN5A.
SCN5A | R-HYYFTNSWNIFDFVVVILSIVGTVLSDI>I<Q----------------------KYFFSPT | 1620 |
SCN1A | R-HYYFTIGWNIFDFVVVILSIVGMFLAEL>I<E----------------------KYFVSPT | 1633 |
SCN2A | R-YYYFTIGWNIFDFVVVILSIVGMFLAEL>I<E----------------------KYFVSPT | 1623 |
SCN3A | R-HYYFTIGWNIFDFVVVILSIVGMFLAEM>I<E----------------------KYFVSPT | 1618 |
SCN4A | R-QYYFTVGWNIFDFVVVILSIVGLALSDL>I<Q----------------------KYFVSPT | 1445 |
SCN7A | R-CFYFTIAWNIFDFMVVIFSITGLCLPMT>V<G----------------------SYLVPPS | 1343 |
SCN8A | R-HYYFTIGWNIFDFVVVILSIVGMFLADI>I<E----------------------KYFVSPT | 1614 |
SCN9A | R-HYYFTVGWNIFDFVVVIISIVGMFLADL>I<E----------------------TYFVSPT | 1596 |
SCN10A | R-QYYFTNGWNVFDFIVVVLSIASLIFSAI>L<KS--------------------LQSYFSPT | 1570 |
SCN11A | R-QYYFTNGWNLFDCVVVLLSIVSTMISTL>E<NQ--------------------EHIPFPPT | 1460 |
CACNA1A | GILNYFRDAWNIFDFVTVLGSITDILVTEF>G<NN-----------------------FINLS | 1658 |
CACNA1B | GVLNYFRDAWNVFDFVTVLGSITDILVTEI>A<ET---------------------NNFINLS | 1566 |
CACNA1C | KPKHYFCDAWNTFDALIVVGSIVDIAITEV>N<PAE----HTQ----CSPSMNAEENSRISIT | 1326 |
CACNA1D | KPKGYFSDAWNTFDSLIVIGSIIDVALSEA>D<PTE----SENVPVPTATPGNSEESNRISIT | 1336 |
CACNA1E | GFLNYFRDTWNIFDFITVIGSITEIILTDS>K<LV--------------------NTSGFNMS | 1573 |
CACNA1F | KPKHYFTDAWNTFDALIVVGSIVDIAVTEV>N<NGG----HLG----E----SSEDSSRISIT | 1293 |
CACNA1G | GFRRFFQDRWNQLDLAIVLLSIMGITLEEI>E<VN--------------------ASLPINPT | 1706 |
CACNA1H | GFRRFFKDRWNQLDLAIVLLSLMGITLEEI>E<MS--------------------AALPINPT | 1712 |
CACNA1I | GLRRFFKDRWNQLDLAIVLLSVMGITLEEI>E<IN--------------------AALPINPT | 1582 |
CACNA1S | KARGYFGDPWNVFDFLIVIGSIIDVILSEI>D<TFLASSGGLYCLGGGCGNVDPDESARISSA | 1233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1612N | c.4835T>A | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |