No paralogue variants have been mapped to residue 773 for SCN5A.
SCN5A | SEFEEMLQVGNLVFTGIFTAEMTFKIIALD>P<YYYFQQGWNIFDSIIVILSLMELGLSRMS- | 802 |
SCN1A | DHFNNVLTVGNLVFTGIFTAEMFLKIIAMD>P<YYYFQEGWNIFDGFIVTLSLVELGLANVE- | 853 |
SCN2A | EQFSSVLSVGNLVFTGIFTAEMFLKIIAMD>P<YYYFQEGWNIFDGFIVSLSLMELGLANVE- | 844 |
SCN3A | EQFSSVLTVGNLVFTGIFTAEMVLKIIAMD>P<YYYFQEGWNIFDGIIVSLSLMELGLSNVE- | 845 |
SCN4A | EHFDNVLTVGNLVFTGIFTAEMVLKLIAMD>P<YEYFQQGWNIFDSIIVTLSLVELGLANVQ- | 663 |
SCN7A | KQTNTLLNIGNLVFIGIFTAEMIFKIIAMH>P<YGYFQVGWNIFDSMIVFHGLIELCLANVA- | 590 |
SCN8A | PQFEHVLAVGNLVFTGIFTAEMFLKLIAMD>P<YYYFQEGWNIFDGFIVSLSLMELSLADVE- | 838 |
SCN9A | EEFKNVLAIGNLVFTGIFAAEMVLKLIAMD>P<YEYFQVGWNIFDSLIVTLSLVELFLADVE- | 818 |
SCN10A | PTFEAMLQIGNIVFTIFFTAEMVFKIIAFD>P<YYYFQKKWNIFDCIIVTVSLLELGVAKKG- | 750 |
SCN11A | ASFEKMLNIGNLVFTSIFIAEMCLKIIALD>P<YHYFRRGWNIFDSIVALLSFADVMNCVLQK | 663 |
CACNA1A | EWLSDFLYYAEFIFLGLFMSEMFIKMYGLG>T<RPYFHSSFNCFDCGVIIGSIFEVIWAVIKP | 573 |
CACNA1B | RRLTTTLYFAEFVFLGLFLTEMSLKMYGLG>P<RSYFRSSFNCFDFGVIVGSVFEVVWAAIKP | 569 |
CACNA1C | NWLTEVQDTANKALLALFTAEMLLKMYSLG>L<QAYFVSLFNRFDCFVVCGGILETILVETKI | 610 |
CACNA1D | DWLTQIQDIANKVLLALFTCEMLVKMYSLG>L<QAYFVSLFNRFDCFVVCGGITETILVELEI | 629 |
CACNA1E | QWLTHLLYYAEFLFLGLFLLEMSLKMYGMG>P<RLYFHSSFNCFDFGVTVGSIFEVVWAIFRP | 562 |
CACNA1F | VWLTQIQEYANKVLLCLFTVEMLLKLYGLG>P<SAYVSSFFNRFDCFVVCGGILETTLVEVGA | 615 |
CACNA1G | EELTNALEISNIVFTSLFALEMLLKLLVYG>P<FGYIKNPYNIFDGVIVVISVWEIVGQQGG- | 828 |
CACNA1H | EELTNALEISNIVFTSMFALEMLLKLLACG>P<LGYIRNPYNIFDGIIVVISVWEIVGQADG- | 878 |
CACNA1I | EELTNILEICNVVFTSMFALEMILKLAAFG>L<FDYLRNPYNIFDSIIVIISIWEIVGQADG- | 725 |
CACNA1S | LWLTRLQDIANRVLLSLFTTEMLMKMYGLG>L<RQYFMSIFNRFDCFVVCSGILEILLVESGA | 518 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P773S | c.2317C>T | Inherited Arrhythmia | BrS | rs199473158 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |