Paralogue Annotation for SCN5A residue 126

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 126
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 126

No paralogue variants have been mapped to residue 126 for SCN5A.



SCN5ALNKGKTIFRFSATNALYVLSPFHPIRRAAV>K<ILVHSLFNMLIMCTILTNCVFMAQH-----151
SCN1ALNKGKAIFRFSATSALYILTPFNPLRKIAI>K<ILVHSLFSMLIMCTILTNCVFMTMS-----148
SCN2ALNKGKAISRFSATPALYILTPFNPIRKLAI>K<ILVHSLFNMLIMCTILTNCVFMTMS-----149
SCN3AMNKGKAIFRFSATSALYILTPLNPVRKIAI>K<ILVHSLFSMLIMCTILTNCVFMTLS-----148
SCN4ALNKGKAIFRFSATPALYLLSPFSVVRRGAI>K<VLIHALFSMFIMITILTNCVFMTMS-----151
SCN7ALNKNRTIFRFNAASILCTLSPFNCIRRTTI>K<VLVHPFFQLFILISVLIDCVFMSLT-----138
SCN8ALNRGKTLFRFSATPALYILSPFNLIRRIAI>K<ILIHSVFSMIIMCTILTNCVFMTFS-----152
SCN9ALNKGKTIFRFNATPALYMLSPFSPLRRISI>K<ILVHSLFSMLIMCTILTNCIFMTMN-----146
SCN10ALNKGRTISRFSATRALWLFSPFNLIRRTAI>K<VSVHSWFSLFITVTILVNCVCMTRT-----150
SCN11ALNRKRTIYRFSAKHALFIFGPFNSIRSLAI>R<VSVHSLFSMFIIGTVIINCVFMATGPA-K-152
CACNA1ANPIPVRQNCLTVNRSLFLFSEDNVVRKYAK>K<ITEWPPFEYMILATIIANCIVLALEQHLPD123
CACNA1BNPIPVKQNCFTVNRSLFVFSEDNVVRKYAK>R<ITEWPPFEYMILATIIANCIVLALEQHLPD120
CACNA1CPKKQGSTTATRPPRALLCLTLKNPIRRACI>S<IVEWKPFEIIILLTIFANCVALAIYIPFPE149
CACNA1DSKKQGNSSNSRPARALFCLSLNNPIRRACI>S<IVEWKPFDIFILLAIFANCVALAIYIPFPE151
CACNA1ENPIPVRQNCFTVNRSLFIFGEDNIVRKYAK>K<LIDWPPFEYMILATIIANCIVLALEQHLPE114
CACNA1FHKTVAVASAQRSPRALFCLTLANPLRRSCI>S<IVEWKPFDILILLTIFANCVALGVYIPFPE117
CACNA1GSEAEGLPYPALAPVVFFYLSQDSRPRSWCL>R<TVCNPWFERISMLVILLNCVTLGMFRPCED106
CACNA1HDEEQRVPYPALAATVFFCLGQTTRPRSWCL>R<LVCNPWFEHVSMLVIMLNCVTLGMFRPCED125
CACNA1I-ADPHVPHPDLAPIAFFCLRQTTSPRNWCI>K<MVCNPWFECVSMLVILLNCVTLGMYQPCDD104
CACNA1SPKKPVPEILPRPPRALFCLTLENPLRKACI>S<IVEWKPFETIILLTIFANCVALAVYLPMPE76
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K126Ec.376A>G Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Novel mutations in domain I of SCN5A cause Brugada syndrome. Mol Genet Metab. 2002 75(4):317-24. 12051963
Inherited ArrhythmiaBrS 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 ArrhythmiaBrS A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092
Inherited ArrhythmiaBrS 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