No paralogue variants have been mapped to residue 777 for SCN5A.
| SCN5A | EMLQVGNLVFTGIFTAEMTFKIIALDPYYY>F<QQGWNIFDSIIVILSLMELGLSRMS----- | 802 |
| SCN1A | NVLTVGNLVFTGIFTAEMFLKIIAMDPYYY>F<QEGWNIFDGFIVTLSLVELGLANVE----- | 853 |
| SCN2A | SVLSVGNLVFTGIFTAEMFLKIIAMDPYYY>F<QEGWNIFDGFIVSLSLMELGLANVE----- | 844 |
| SCN3A | SVLTVGNLVFTGIFTAEMVLKIIAMDPYYY>F<QEGWNIFDGIIVSLSLMELGLSNVE----- | 845 |
| SCN4A | NVLTVGNLVFTGIFTAEMVLKLIAMDPYEY>F<QQGWNIFDSIIVTLSLVELGLANVQ----- | 663 |
| SCN7A | TLLNIGNLVFIGIFTAEMIFKIIAMHPYGY>F<QVGWNIFDSMIVFHGLIELCLANVA----- | 590 |
| SCN8A | HVLAVGNLVFTGIFTAEMFLKLIAMDPYYY>F<QEGWNIFDGFIVSLSLMELSLADVE----- | 838 |
| SCN9A | NVLAIGNLVFTGIFAAEMVLKLIAMDPYEY>F<QVGWNIFDSLIVTLSLVELFLADVE----- | 818 |
| SCN10A | AMLQIGNIVFTIFFTAEMVFKIIAFDPYYY>F<QKKWNIFDCIIVTVSLLELGVAKKG----- | 750 |
| SCN11A | KMLNIGNLVFTSIFIAEMCLKIIALDPYHY>F<RRGWNIFDSIVALLSFADVMNCVLQKR--- | 664 |
| CACNA1A | DFLYYAEFIFLGLFMSEMFIKMYGLGTRPY>F<HSSFNCFDCGVIIGSIFEVIWAVIKPGTSF | 577 |
| CACNA1B | TTLYFAEFVFLGLFLTEMSLKMYGLGPRSY>F<RSSFNCFDFGVIVGSVFEVVWAAIKPGSSF | 573 |
| CACNA1C | EVQDTANKALLALFTAEMLLKMYSLGLQAY>F<VSLFNRFDCFVVCGGILETILVETKIMSPL | 614 |
| CACNA1D | QIQDIANKVLLALFTCEMLVKMYSLGLQAY>F<VSLFNRFDCFVVCGGITETILVELEIMSPL | 633 |
| CACNA1E | HLLYYAEFLFLGLFLLEMSLKMYGMGPRLY>F<HSSFNCFDFGVTVGSIFEVVWAIFRPGTSF | 566 |
| CACNA1F | QIQEYANKVLLCLFTVEMLLKLYGLGPSAY>V<SSFFNRFDCFVVCGGILETTLVEVGAMQPL | 619 |
| CACNA1G | NALEISNIVFTSLFALEMLLKLLVYGPFGY>I<KNPYNIFDGVIVVISVWEIVGQQGG----- | 828 |
| CACNA1H | NALEISNIVFTSMFALEMLLKLLACGPLGY>I<RNPYNIFDGIIVVISVWEIVGQADG----- | 878 |
| CACNA1I | NILEICNVVFTSMFALEMILKLAAFGLFDY>L<RNPYNIFDSIIVIISIWEIVGQADG----- | 725 |
| CACNA1S | RLQDIANRVLLSLFTTEMLMKMYGLGLRQY>F<MSIFNRFDCFVVCSGILEILLVESGAMTPL | 522 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F777L | c.2329T>C | Other Cardiac Phenotype | SIFT: deleterious Polyphen: benign | ||
| Reports | Other Cardiac Phenotype | A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol. 2012 5(1):163-72. 22247482 | |||
| p.Phe777Tyr | c.2330T>A | Unknown | SIFT: Polyphen: | ||