No paralogue variants have been mapped to residue 759 for SCN5A.
SCN5A | LNTLFMALEHYNMTSEFEEMLQVGNLVFTG>I<FTAEMTFKIIALDPYYYFQQGWNIFDSIIV | 789 |
SCN1A | LNTLFMAMEHYPMTDHFNNVLTVGNLVFTG>I<FTAEMFLKIIAMDPYYYFQEGWNIFDGFIV | 840 |
SCN2A | LNTLFMAMEHYPMTEQFSSVLSVGNLVFTG>I<FTAEMFLKIIAMDPYYYFQEGWNIFDGFIV | 831 |
SCN3A | LNTLFMAMEHYPMTEQFSSVLTVGNLVFTG>I<FTAEMVLKIIAMDPYYYFQEGWNIFDGIIV | 832 |
SCN4A | LNTLFMAMEHYPMTEHFDNVLTVGNLVFTG>I<FTAEMVLKLIAMDPYEYFQQGWNIFDSIIV | 650 |
SCN7A | LNVCFLTLEHYPMSKQTNTLLNIGNLVFIG>I<FTAEMIFKIIAMHPYGYFQVGWNIFDSMIV | 577 |
SCN8A | LNTLFMAMEHHPMTPQFEHVLAVGNLVFTG>I<FTAEMFLKLIAMDPYYYFQEGWNIFDGFIV | 825 |
SCN9A | LNTLFMAMEHHPMTEEFKNVLAIGNLVFTG>I<FAAEMVLKLIAMDPYEYFQVGWNIFDSLIV | 805 |
SCN10A | VNTIFMAMEHHGMSPTFEAMLQIGNIVFTI>F<FTAEMVFKIIAFDPYYYFQKKWNIFDCIIV | 737 |
SCN11A | INTVFLAMEHHKMEASFEKMLNIGNLVFTS>I<FIAEMCLKIIALDPYHYFRRGWNIFDSIVA | 649 |
CACNA1A | LNTLCVAIVHYNQPEWLSDFLYYAEFIFLG>L<FMSEMFIKMYGLGTRPYFHSSFNCFDCGVI | 559 |
CACNA1B | LNTLCVAMVHYNQPRRLTTTLYFAEFVFLG>L<FLTEMSLKMYGLGPRSYFRSSFNCFDFGVI | 555 |
CACNA1C | LNTLTIASEHYNQPNWLTEVQDTANKALLA>L<FTAEMLLKMYSLGLQAYFVSLFNRFDCFVV | 596 |
CACNA1D | LNTLTISSEHYNQPDWLTQIQDIANKVLLA>L<FTCEMLVKMYSLGLQAYFVSLFNRFDCFVV | 615 |
CACNA1E | LNTACVAIVHHNQPQWLTHLLYYAEFLFLG>L<FLLEMSLKMYGMGPRLYFHSSFNCFDFGVT | 548 |
CACNA1F | LNTLTIASEHHGQPVWLTQIQEYANKVLLC>L<FTVEMLLKLYGLGPSAYVSSFFNRFDCFVV | 601 |
CACNA1G | VNTLSMGIEYHEQPEELTNALEISNIVFTS>L<FALEMLLKLLVYGPFGYIKNPYNIFDGVIV | 815 |
CACNA1H | VNTLSMGVEYHEQPEELTNALEISNIVFTS>M<FALEMLLKLLACGPLGYIRNPYNIFDGIIV | 865 |
CACNA1I | VNTVSMGIEHHEQPEELTNILEICNVVFTS>M<FALEMILKLAAFGLFDYLRNPYNIFDSIIV | 712 |
CACNA1S | LNTLSIASEHHNQPLWLTRLQDIANRVLLS>L<FTTEMLMKMYGLGLRQYFMSIFNRFDCFVV | 504 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I759F | c.2275A>T | Inherited Arrhythmia | LQTS | rs199473155 | SIFT: tolerated Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
Inherited Arrhythmia | LQTS | Long QT molecular autopsy in sudden infant death syndrome. Arch Dis Child. 2014 99(7):635-40. 24596401 | |||
p.I759V | c.2275A>G | Putative Benign | SIFT: Polyphen: |