No paralogue variants have been mapped to residue 126 for SCN5A.
SCN5A | LNKGKTIFRFSATNALYVLSPFHPIRRAAV>K<ILVHSLFNMLIMCTILTNCVFMAQH----- | 151 |
SCN1A | LNKGKAIFRFSATSALYILTPFNPLRKIAI>K<ILVHSLFSMLIMCTILTNCVFMTMS----- | 148 |
SCN2A | LNKGKAISRFSATPALYILTPFNPIRKLAI>K<ILVHSLFNMLIMCTILTNCVFMTMS----- | 149 |
SCN3A | MNKGKAIFRFSATSALYILTPLNPVRKIAI>K<ILVHSLFSMLIMCTILTNCVFMTLS----- | 148 |
SCN4A | LNKGKAIFRFSATPALYLLSPFSVVRRGAI>K<VLIHALFSMFIMITILTNCVFMTMS----- | 151 |
SCN7A | LNKNRTIFRFNAASILCTLSPFNCIRRTTI>K<VLVHPFFQLFILISVLIDCVFMSLT----- | 138 |
SCN8A | LNRGKTLFRFSATPALYILSPFNLIRRIAI>K<ILIHSVFSMIIMCTILTNCVFMTFS----- | 152 |
SCN9A | LNKGKTIFRFNATPALYMLSPFSPLRRISI>K<ILVHSLFSMLIMCTILTNCIFMTMN----- | 146 |
SCN10A | LNKGRTISRFSATRALWLFSPFNLIRRTAI>K<VSVHSWFSLFITVTILVNCVCMTRT----- | 150 |
SCN11A | LNRKRTIYRFSAKHALFIFGPFNSIRSLAI>R<VSVHSLFSMFIIGTVIINCVFMATGPA-K- | 152 |
CACNA1A | NPIPVRQNCLTVNRSLFLFSEDNVVRKYAK>K<ITEWPPFEYMILATIIANCIVLALEQHLPD | 123 |
CACNA1B | NPIPVKQNCFTVNRSLFVFSEDNVVRKYAK>R<ITEWPPFEYMILATIIANCIVLALEQHLPD | 120 |
CACNA1C | PKKQGSTTATRPPRALLCLTLKNPIRRACI>S<IVEWKPFEIIILLTIFANCVALAIYIPFPE | 149 |
CACNA1D | SKKQGNSSNSRPARALFCLSLNNPIRRACI>S<IVEWKPFDIFILLAIFANCVALAIYIPFPE | 151 |
CACNA1E | NPIPVRQNCFTVNRSLFIFGEDNIVRKYAK>K<LIDWPPFEYMILATIIANCIVLALEQHLPE | 114 |
CACNA1F | HKTVAVASAQRSPRALFCLTLANPLRRSCI>S<IVEWKPFDILILLTIFANCVALGVYIPFPE | 117 |
CACNA1G | SEAEGLPYPALAPVVFFYLSQDSRPRSWCL>R<TVCNPWFERISMLVILLNCVTLGMFRPCED | 106 |
CACNA1H | DEEQRVPYPALAATVFFCLGQTTRPRSWCL>R<LVCNPWFEHVSMLVIMLNCVTLGMFRPCED | 125 |
CACNA1I | -ADPHVPHPDLAPIAFFCLRQTTSPRNWCI>K<MVCNPWFECVSMLVILLNCVTLGMYQPCDD | 104 |
CACNA1S | PKKPVPEILPRPPRALFCLTLENPLRKACI>S<IVEWKPFETIILLTIFANCVALAVYLPMPE | 76 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K126E | c.376A>G | Inherited Arrhythmia | BrS | rs185492581 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Novel mutations in domain I of SCN5A cause Brugada syndrome. Mol Genet Metab. 2002 75(4):317-24. 12051963 | ||
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 | |||
Inherited Arrhythmia | BrS | A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092 | |||
Inherited Arrhythmia | BrS | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. Front Physiol. 2013 4:153. doi: 10.3389/fphys.2013.00153. eCollection 23805106 |