No paralogue variants have been mapped to residue 1642 for SCN5A.
SCN5A | --KYFFSPTLFRVIRLARIGRILRLIRGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYS | 1672 |
SCN1A | --KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA | 1685 |
SCN2A | --KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA | 1675 |
SCN3A | --KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA | 1670 |
SCN4A | --KYFVSPTLFRVIRLARIGRVLRLIRGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYS | 1497 |
SCN7A | --SYLVPPSLVQLILLSRIIHMLRLGKGPK>V<FHNLMLPLMLSLPALLNIILLIFLVMFIYA | 1395 |
SCN8A | --KYFVSPTLFRVIRLARIGRILRLIKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIFS | 1666 |
SCN9A | --TYFVSPTLFRVIRLARIGRILRLVKGAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYA | 1648 |
SCN10A | -LQSYFSPTLFRVIRLARIGRILRLIRAAK>G<IRTLLFALMMSLPALFNIGLLLFLVMFIYS | 1622 |
SCN11A | -EHIPFPPTLFRIVRLARIGRILRLVRAAR>G<IRTLLFALMMSLPSLFNIGLLLFLIMFIYA | 1512 |
CACNA1A | ----FINLSFLRLFRA---ARLIKLLRQGY>T<IRILLWTFVQSFKALPYVCLLIAMLFFIYA | 1707 |
CACNA1B | --NNFINLSFLRLFRA---ARLIKLLRQGY>T<IRILLWTFVQSFKALPYVCLLIAMLFFIYA | 1615 |
CACNA1C | EENSRISITFFRLFRV---MRLVKLLSRGE>G<IRTLLWTFIKSFQALPYVALLIVMLFFIYA | 1375 |
CACNA1D | EESNRISITFFRLFRV---MRLVKLLSRGE>G<IRTLLWTFIKSFQALPYVALLIAMLFFIYA | 1385 |
CACNA1E | -NTSGFNMSFLKLFRA---ARLIKLLRQGY>T<IRILLWTFVQSFKALPYVCLLIAMLFFIYA | 1622 |
CACNA1F | EDSSRISITFFRLFRV---MRLVKLLSKGE>G<IRTLLWTFIKSFQALPYVALLIAMIFFIYA | 1342 |
CACNA1G | -ASLPINPTIIRIMRVLRIARVLKLLKMAV>G<MRALLDTVMQALPQVGNLGLLFMLLFFIFA | 1758 |
CACNA1H | -AALPINPTIIRIMRVLRIARVLKLLKMAT>G<MRALLDTVVQALPQVGNLGLLFMLLFFIYA | 1764 |
CACNA1I | -AALPINPTIIRIMRVLRIARVLKLLKMAT>G<MRALLDTVVQALPQVGNLGLLFMLLFFIYA | 1634 |
CACNA1S | DESARISSAFFRLFRV---MRLIKLLSRAE>G<VRTLLWTFIKSFQALPYVALLIVMLFFIYA | 1282 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1642E | c.4925G>A | Inherited Arrhythmia | BrS | rs199473624 | 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 |