Paralogue Annotation for SCN5A residue 1964

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1964
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1964

No paralogue variants have been mapped to residue 1964 for SCN5A.



SCN5A-------------------NF-SRPLG-PP>S<S-----------------------------1965
SCN1A-------------------NS-I-----TE>K<T-----------------------------1973
SCN2A-------------------NS-T-----PE>K<T-----------------------------1963
SCN3A-------------------NS-T-----PE>K<T-----------------------------1958
SCN4A-------------------NSSS-----PS>P<E-----------------------------1793
SCN7A------------------------------>-<------------------------------
SCN8A-------------------GT-H-----RE>K<K-----------------------------1935
SCN9A-------------------NS-S-----PE>K<T-----------------------------1935
SCN10A-------------------NC-V---L-PD>K<S-----------------------------1909
SCN11A-------------------PH-----S-PL>Q<T-----------------------------1772
CACNA1AMFQKTGTWSPEQGPPTDMPNSQP-NSQSVE>M<REMGRDG-YSDSEHYLPMEGQGRAASMPRL2097
CACNA1BAPHEA-RPPLERGHSTEIPVGRS-GALAVD>V<QMQSITRRGPDGEPQPGLESQGRAASMPRL2006
CACNA1C-------------------ASED-DIFRRA>G<GLFGNHV-SYYQSDG--------RSAFPQT1721
CACNA1D-------------------EEED-DVFKRN>G<ALLGNHV-NHVNSDR--------RDSLQQT1724
CACNA1EIFQLACMDPADDGQFQERQSLEP-EVSELK>S<VQPSNHG-IYLPSDTQEHAGSGRASSMPRL2004
CACNA1F-------------------EDEK-DLETNK>A<TMVSQPS-AR---RG--------SGISVSL1681
CACNA1GTHSLPNDSYMCRHGSTAEGPLGH-RGWGLP>K<A--------------Q----SGSVLSVHSQ2085
CACNA1HPGEKTPVRPVTQGGSLQSPPRSP-RPASVR>T<--------------RK----HTFGQRCVSS2081
CACNA1ILKHDSSQAPPSPFSPDASSPLLP-MPAEFF>H<PAVSASQ-KGPEKGTG----TGTLPKIALQ1991
CACNA1S-------------------AMEE-GIFRRT>G<GLFGQVD-NFL--ER--------TNSLPPV1621
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1964Fc.5891C>T Inherited ArrhythmiaBrSrs199473332SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Prospective evaluation of the familial prevalence of the brugada syndrome. Am J Cardiol. 2010 106(12):1758-62. 21126620
CardiomyopathyHCM Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175