Paralogue Annotation for SCN5A residue 1875

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1875
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1875

No paralogue variants have been mapped to residue 1875 for SCN5A.



SCN5ACMDILFAFTKRVLGES--G---EMDALKIQ>M<EEKFMA---ANP-SKISYEPITTTLRRKHE1901
SCN1ACLDILFAFTKRVLGES--G---EMDALRIQ>M<EERFMA---SNP-SKVSYQPITTTLKRKQE1915
SCN2ACLDILFAFTKRVLGES--G---EMDALRIQ>M<EERFMA---SNP-SKVSYEPITTTLKRKQE1905
SCN3ACLDILFAFTKRVLGES--G---EMDALRIQ>M<EDRFMA---SNP-SKVSYEPITTTLKRKQE1900
SCN4ACLDILFALTKEVLGDS--G---EMDALKQT>M<EEKFMA---ANP-SKVSYEPITTTLKRKHE1727
SCN7ACLDILLAFTKRVMGQD--V---RMEKVVSE>I<ESGFLL---ANP-FKITCEPITTTLKRKQE1625
SCN8ACLDILFAFTKRVLGDS--G---ELDILRQQ>M<EERFVA---SNP-SKVSYEPITTTLRRKQE1895
SCN9ACLDILFAFTKRVLGES--G---EMDSLRSQ>M<EERFMS---ANP-SKVSYEPITTTLKRKQE1878
SCN10ACLDILFAFTKNVLGES--G---ELDSLKAN>M<EEKFMA---TNL-SKSSYEPIATTLRWKQE1851
SCN11ACMDILFAFTARVLGGS--D---GLDSMKAM>M<EEKFME---ANP-LKKLYEPIVTTTKRKEE1733
CACNA1AFNSTLMALIRTALDIKIAKGGADKQQMDAE>L<RKEMMAIW-PNL-SQKTLDLLVTPHKSTDL1951
CACNA1BFTSTLMALIRTALEIKLAPAGTKQHQCDAE>L<RKEISVVW-ANL-PQKTLDLLVPPHKPDEM1850
CACNA1CFNATLFALVRTALRIKTEG---NLEQANEE>L<RAIIKKIW-KRT-SMKLLDQVVPPAGDDEV1613
CACNA1DFNATLFALVRTALKIKTEG---NLEQANEE>L<RAVIKKIW-KKT-SMKLLDQVVPPAGDDEV1621
CACNA1EFTSTLMALIRTALDIKIAKGGADRQQLDSE>L<QKETLAIW-PHL-SQKMLDLLVPMPKASDL1863
CACNA1FFNATLFALVRTSLKIKTEG---NLEQANQE>L<RIVIKKIW-KRM-KQKLLDEVIPPPDEEEV1578
CACNA1GHFSLEHPTDRQLFDTI---S--LLIQGSLE>W<ELKLMDEL-AGPGGQPSAFPSAPSLGGSDP1974
CACNA1H-------LVARKV----------------S>V<SRML-SLPNDSYM----FRPVVPASAPHPR1946
CACNA1IWLDSVSLIIKDSL----------------E>G<ELTIIDNL-SGSI----FHHYSSPAGCKKC1841
CACNA1SFNATLFALVRTALKIKTEG---NFEQANEE>L<RAIIKKIW-KRT-SMKLLDQVIPPIGDDEV1518
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1875Tc.5624T>C Inherited ArrhythmiaAFSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaAF A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. J Am Coll Cardiol. 2008 52(16):1326-34. 18929244
p.M1875Kc.5624T>A Putative BenignSIFT:
Polyphen: