Paralogue Annotation for SCN5A residue 2016

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 2016
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 2016

No paralogue variants have been mapped to residue 2016 for SCN5A.



SCN5A-----------------DFPPSPDRDRESI>V<2016
SCN1A---------------------KG------->K<2009
SCN2A---------------------KGKDIRESK>K<2005
SCN3A---------------------KGKEVRENQ>K<2000
SCN4A---------------------VRPGVKESL>V<1836
SCN7A--------------------------IQSQ>I<1682
SCN8A---------------------RQKEVRESK>C<1980
SCN9A---------------------KGKDSKESK>K<1977
SCN10A---------------------TSMELIAPG>P<1956
SCN11A------------------------------>D<1791
CACNA1A-----------------RSPSEGREHMAHR>Q<2261
CACNA1B-----------SGGR--ARHSYHHPDQDHW>C<2340
CACNA1C--GCV-----RARGRPSEEELQDSRVYVSS>L<2138
CACNA1D--E-E-----PDPGR-DEEDLADEMICITT>L<2181
CACNA1E--GPG-----PGMMCGAVNNLLSDTEEDDK>C<2313
CACNA1F--E-E-----SILSRFDEEDLGDEMACVHA>L<1977
CACNA1G------------------------------>P<2377
CACNA1HVPQ-CPLEKPGSPSA--TPA-PG-GGADDP>V<2353
CACNA1I---------PQPLPG--ELE-PGDAASKRK>R<2223
CACNA1S----G-----SSLGSLDQHQGSQETLIPPR>L<1873
cons                              > <

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2016Mc.6046G>A Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function. Circulation. 2014 130(2):147-60. doi: 10.1161/CIRCULATIONAHA.113.007 24895455