Paralogue Annotation for SCN5A residue 62

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 62
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 62

No paralogue variants have been mapped to residue 62 for SCN5A.



SCN5AGSTTLQESRE-GLPEE--EAPRPQLDLQAS>K<KLPDLYGNPPQELIGEPLEDLDPFYSTQK-91
SCN1ANPKPD----K-KDDDE--NGPKPNSDLEAG>K<NLPFIYGDIPPEMVSEPLEDLDPYYINKK-88
SCN2ARPKQE----RKDEDDE--NGPKPNSDLEAG>K<SLPFIYGDIPPEMVSVPLEDLDPYYINKK-89
SCN3AKPKKE----Q-DNDDE--NKPKPNSDLEAG>K<NLPFIYGDIPPEMVSEPLEDLDPYYINKK-88
SCN4ALQRNK----Q-MEIEE--PERKPRSDLEAG>K<NLPMIYGDPPPEVIGIPLEDLDPYYSNKK-91
SCN7A----H----N-EDHEE--EDLKPTPDLEVG>K<KLPFIYGNLSQGMVSEPLEDVDPYYYKKKN78
SCN8AKPPKADGSHR-EDDED--SKPKPNSDLEAG>K<SLPFIYGDIPQGLVAVPLEDFDPYYLTQK-92
SCN9AEPKEE----K-KDDDE--EAPKPSSDLEAG>K<QLPFIYGDIPPGMVSEPLEDLDPYYADKK-86
SCN10AKKARE-KHRE-QKDQE--EKPRPQLDLKAC>N<QLPKFYGELPAELIGEPLEDLDPFYSTHR-90
SCN11AKKSK-----D-QTGEV--PQPRPQLDLKAS>R<KLPKLYGDIPRELIGKPLEDLDPFYRNHK-89
CACNA1A----VVGSG-GGRGAG--GSRQGGQ----->-<--PGA-----------QRMYKQSMAQRART58
CACNA1B------RGG-GAGGAG--GPGPGGLQ---->-<--PGQ-----------RVLYKQSIAQRART55
CACNA1CA-NAAAGLA----PEH--IPTPGAALSWQA>A<IDAARQAKLMGSAGNATISTVSST-QRKRQ84
CACNA1DR-LPLSGEG----PTSQPNSSKQTVLSWQA>A<IDAARQAKAAQTMSTSAPPPVGSLSQRKRQ86
CACNA1E-----SD-Q-SRNRQG--TPVPA------->-<--SGQ-----------AAAYKQTKAQRART49
CACNA1F----GAGPG----PEWGLCPGP----P--->-<---AV--------EGESSGASGLGTPKRRN52
CACNA1GM--RLND------LSG--AGGRP------->-<---G-----------PGSA-------EKDP41
CACNA1HA--ERGS------ELG--VSPSE------->-<---S-----------P-AA-------ERGA60
CACNA1IE--PGVTTE----QPG--P--RS--P---->-<--PS-----------SPPG-------LEEP41
CACNA1S------------------------------>-<----------------------SSPQDEGL11
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K62Tc.185A>C Putative BenignSIFT: deleterious
Polyphen: probably damaging