Paralogue Annotation for SCN5A residue 61

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 61
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 61

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G58V	Dravet syndrome	Low	3	18930999

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	RGSTTLQESRE-GLPEE--EAPRPQLDLQA>S<KKLPDLYGNPPQELIGEPLEDLDPFYSTQK	91
SCN1A	KNPKPD----K-KDDDE--NGPKPNSDLEA>G<KNLPFIYGDIPPEMVSEPLEDLDPYYINKK	88
SCN2A	KRPKQE----RKDEDDE--NGPKPNSDLEA>G<KSLPFIYGDIPPEMVSVPLEDLDPYYINKK	89
SCN3A	KKPKKE----Q-DNDDE--NKPKPNSDLEA>G<KNLPFIYGDIPPEMVSEPLEDLDPYYINKK	88
SCN4A	RLQRNK----Q-MEIEE--PERKPRSDLEA>G<KNLPMIYGDPPPEVIGIPLEDLDPYYSNKK	91
SCN7A	-----H----N-EDHEE--EDLKPTPDLEV>G<KKLPFIYGNLSQGMVSEPLEDVDPYYYKKK	77
SCN8A	KKPPKADGSHR-EDDED--SKPKPNSDLEA>G<KSLPFIYGDIPQGLVAVPLEDFDPYYLTQK	92
SCN9A	KEPKEE----K-KDDDE--EAPKPSSDLEA>G<KQLPFIYGDIPPGMVSEPLEDLDPYYADKK	86
SCN10A	-KKARE-KHRE-QKDQE--EKPRPQLDLKA>C<NQLPKFYGELPAELIGEPLEDLDPFYSTHR	90
SCN11A	KKKSK-----D-QTGEV--PQPRPQLDLKA>S<RKLPKLYGDIPRELIGKPLEDLDPFYRNHK	89
CACNA1A	-----VVGSG-GGRGAG--GSRQGGQ---->-<---PGA-----------QRMYKQSMAQRAR	57
CACNA1B	-------RGG-GAGGAG--GPGPGGLQ--->-<---PGQ-----------RVLYKQSIAQRAR	54
CACNA1C	-A-NAAAGLA----PEH--IPTPGAALSWQ>A<AIDAARQAKLMGSAGNATISTVSST-QRKR	83
CACNA1D	-R-LPLSGEG----PTSQPNSSKQTVLSWQ>A<AIDAARQAKAAQTMSTSAPPPVGSLSQRKR	85
CACNA1E	------SD-Q-SRNRQG--TPVPA------>-<---SGQ-----------AAAYKQTKAQRAR	48
CACNA1F	-----GAGPG----PEWGLCPGP----P-->-<----AV--------EGESSGASGLGTPKRR	51
CACNA1G	-M--RLND------LSG--AGGRP------>-<----G-----------PGSA-------EKD	40
CACNA1H	-A--ERGS------ELG--VSPSE------>-<----S-----------P-AA-------ERG	59
CACNA1I	-E--PGVTTE----QPG--P--RS--P--->-<---PS-----------SPPG-------LEE	40
CACNA1S	------------------------------>-<-----------------------SSPQDEG	10
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 61 for SCN5A.