Paralogue Annotation for SCN5A residue 1962

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1962
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1962

No paralogue variants have been mapped to residue 1962 for SCN5A.



SCN5A---------------------NF-SRPLG->P<PSS---------------------------1965
SCN1A---------------------NS-I----->T<EKT---------------------------1973
SCN2A---------------------NS-T----->P<EKT---------------------------1963
SCN3A---------------------NS-T----->P<EKT---------------------------1958
SCN4A---------------------NSSS----->P<SPE---------------------------1793
SCN7A------------------------------>-<------------------------------
SCN8A---------------------GT-H----->R<EKK---------------------------1935
SCN9A---------------------NS-S----->P<EKT---------------------------1935
SCN10A---------------------NC-V---L->P<DKS---------------------------1909
SCN11A---------------------PH-----S->P<LQT---------------------------1772
CACNA1AQEMFQKTGTWSPEQGPPTDMPNSQP-NSQS>V<EMREMGRDG-YSDSEHYLPMEGQGRAASMP2095
CACNA1BQDAPHEA-RPPLERGHSTEIPVGRS-GALA>V<DVQMQSITRRGPDGEPQPGLESQGRAASMP2004
CACNA1C---------------------ASED-DIFR>R<AGGLFGNHV-SYYQSDG--------RSAFP1719
CACNA1D---------------------EEED-DVFK>R<NGALLGNHV-NHVNSDR--------RDSLQ1722
CACNA1EQDIFQLACMDPADDGQFQERQSLEP-EVSE>L<KSVQPSNHG-IYLPSDTQEHAGSGRASSMP2002
CACNA1F---------------------EDEK-DLET>N<KATMVSQPS-AR---RG--------SGISV1679
CACNA1GSRTHSLPNDSYMCRHGSTAEGPLGH-RGWG>L<PKA--------------Q----SGSVLSVH2083
CACNA1HAEPGEKTPVRPVTQGGSLQSPPRSP-RPAS>V<RT--------------RK----HTFGQRCV2079
CACNA1ISWLKHDSSQAPPSPFSPDASSPLLP-MPAE>F<FHPAVSASQ-KGPEKGTG----TGTLPKIA1989
CACNA1S---------------------AMEE-GIFR>R<TGGLFGQVD-NFL--ER--------TNSLP1619
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1962Lc.5885C>T Putative BenignSIFT: deleterious
Polyphen: possibly damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative Benign 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
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510