Paralogue Annotation for SCN5A residue 1880

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1880
Reference Amino Acid: M - Methionine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1880

No paralogue variants have been mapped to residue 1880 for SCN5A.



SCN5AFAFTKRVLGES--G---EMDALKIQMEEKF>M<A---ANP-SKISYEPITTTLRRKHEEVS--1904
SCN1AFAFTKRVLGES--G---EMDALRIQMEERF>M<A---SNP-SKVSYQPITTTLKRKQEEVS--1918
SCN2AFAFTKRVLGES--G---EMDALRIQMEERF>M<A---SNP-SKVSYEPITTTLKRKQEEVS--1908
SCN3AFAFTKRVLGES--G---EMDALRIQMEDRF>M<A---SNP-SKVSYEPITTTLKRKQEEVS--1903
SCN4AFALTKEVLGDS--G---EMDALKQTMEEKF>M<A---ANP-SKVSYEPITTTLKRKHEEVC--1730
SCN7ALAFTKRVMGQD--V---RMEKVVSEIESGF>L<L---ANP-FKITCEPITTTLKRKQEAVS--1628
SCN8AFAFTKRVLGDS--G---ELDILRQQMEERF>V<A---SNP-SKVSYEPITTTLRRKQEEVS--1898
SCN9AFAFTKRVLGES--G---EMDSLRSQMEERF>M<S---ANP-SKVSYEPITTTLKRKQEDVS--1881
SCN10AFAFTKNVLGES--G---ELDSLKANMEEKF>M<A---TNL-SKSSYEPIATTLRWKQEDIS--1854
SCN11AFAFTARVLGGS--D---GLDSMKAMMEEKF>M<E---ANP-LKKLYEPIVTTTKRKEEERG--1736
CACNA1AMALIRTALDIKIAKGGADKQQMDAELRKEM>M<AIW-PNL-SQKTLDLLVTPHKSTDLTVGKI1956
CACNA1BMALIRTALEIKLAPAGTKQHQCDAELRKEI>S<VVW-ANL-PQKTLDLLVPPHKPDEMTVGKV1855
CACNA1CFALVRTALRIKTEG---NLEQANEELRAII>K<KIW-KRT-SMKLLDQVVPPAGDDEVTVGKF1618
CACNA1DFALVRTALKIKTEG---NLEQANEELRAVI>K<KIW-KKT-SMKLLDQVVPPAGDDEVTVGKF1626
CACNA1EMALIRTALDIKIAKGGADRQQLDSELQKET>L<AIW-PHL-SQKMLDLLVPMPKASDLTVGKI1868
CACNA1FFALVRTSLKIKTEG---NLEQANQELRIVI>K<KIW-KRM-KQKLLDEVIPPPDEEEVTVGKF1583
CACNA1GHPTDRQLFDTI---S--LLIQGSLEWELKL>M<DEL-AGPGGQPSAFPSAPSLGGSDP-----1974
CACNA1H--LVARKV----------------SVSRML>-<SLPNDSYM----FRPVVPASAPHPR-----1946
CACNA1ISLIIKDSL----------------EGELTI>I<DNL-SGSI----FHHYSSPAGCKKCHHDKQ1846
CACNA1SFALVRTALKIKTEG---NFEQANEELRAII>K<KIW-KRT-SMKLLDQVIPPIGDDEVTVGKF1523
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1880Vc.5638A>G Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. Circ Arrhythm Electrophysiol. 2014 7(3):511-7. doi: 10.1161/CIRCEP.113.001340. 24762805