Paralogue Annotation for SCN5A residue 1113

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1113
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1113

No paralogue variants have been mapped to residue 1113 for SCN5A.



SCN5AVSATASS------EA---------EASASQ>A<DWRQQWKAEPQAPG----CGETPE------1133
SCN1A------------------------------>-<-------------------KLNES------1148
SCN2A------------------------------>-<-------------------KLN-A------1137
SCN3A------------------------------>-<-------------------KLN-A------1135
SCN4A------------------------------>-<-------------------PLY-D------959
SCN7A------------------------------>-<-------------------KIK-Q------868
SCN8A------------------------------>-<-------------------KLD-D------1128
SCN9A------------------------------>-<-------------------RLN-R------1110
SCN10A------------------------------>-<-------------------GVD-D------1080
SCN11A-HQENKK------PT---------SQRVQS>V<EIDMFSEDEPHLTIQDPRKKSD-V------987
CACNA1ALPQSPAKMGNSTDPGPMLAIPAMATNPQNA>A<SRRTPNNPGNPSNPGPP--KTP-ENSLIVT1148
CACNA1BATEKEAEIVEADKEKELR-NHQPREPHCDL>E<TSGTVTVGPMHTLPSTC--LQK-VEEQPED1058
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EMGRVI-------S------QSEPDLSCITA>N<--------------TDK--ATT-ESTSVTV1072
CACNA1F------------------------------>-<------------------------------
CACNA1G------------------------------>-<------------------------------
CACNA1H------------------------------>-<------------------------------
CACNA1I------------------------------>-<------------------------------
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1113Vc.3338C>T Inherited ArrhythmiaBrSrs199473194SIFT: tolerated
Polyphen: benign
ReportsInherited 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 Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164