Paralogue Annotation for SCN5A residue 64

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 64
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 64

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L61F	Dravet syndrome	Medium	3	18930999
SCN1A	L61P	Dravet syndrome	Medium	3	26863999

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	TTLQESRE-GLPEE--EAPRPQLDLQASKK>L<PDLYGNPPQELIGEPLEDLDPFYSTQK-TF	93
SCN1A	KPD----K-KDDDE--NGPKPNSDLEAGKN>L<PFIYGDIPPEMVSEPLEDLDPYYINKK-TF	90
SCN2A	KQE----RKDEDDE--NGPKPNSDLEAGKS>L<PFIYGDIPPEMVSVPLEDLDPYYINKK-TF	91
SCN3A	KKE----Q-DNDDE--NKPKPNSDLEAGKN>L<PFIYGDIPPEMVSEPLEDLDPYYINKK-TF	90
SCN4A	RNK----Q-MEIEE--PERKPRSDLEAGKN>L<PMIYGDPPPEVIGIPLEDLDPYYSNKK-TF	93
SCN7A	--H----N-EDHEE--EDLKPTPDLEVGKK>L<PFIYGNLSQGMVSEPLEDVDPYYYKKKNTF	80
SCN8A	PKADGSHR-EDDED--SKPKPNSDLEAGKS>L<PFIYGDIPQGLVAVPLEDFDPYYLTQK-TF	94
SCN9A	KEE----K-KDDDE--EAPKPSSDLEAGKQ>L<PFIYGDIPPGMVSEPLEDLDPYYADKK-TF	88
SCN10A	ARE-KHRE-QKDQE--EKPRPQLDLKACNQ>L<PKFYGELPAELIGEPLEDLDPFYSTHR-TF	92
SCN11A	SK-----D-QTGEV--PQPRPQLDLKASRK>L<PKLYGDIPRELIGKPLEDLDPFYRNHK-TF	91
CACNA1A	--VVGSG-GGRGAG--GSRQGGQ------->-<PGA-----------QRMYKQSMAQRARTMA	60
CACNA1B	----RGG-GAGGAG--GPGPGGLQ------>-<PGQ-----------RVLYKQSIAQRARTMA	57
CACNA1C	NAAAGLA----PEH--IPTPGAALSWQAAI>D<AARQAKLMGSAGNATISTVSST-QRKRQQY	86
CACNA1D	LPLSGEG----PTSQPNSSKQTVLSWQAAI>D<AARQAKAAQTMSTSAPPPVGSLSQRKRQQY	88
CACNA1E	---SD-Q-SRNRQG--TPVPA--------->-<SGQ-----------AAAYKQTKAQRARTMA	51
CACNA1F	--GAGPG----PEWGLCPGP----P----->-<-AV--------EGESSGASGLGTPKRRNQH	54
CACNA1G	-RLND------LSG--AGGRP--------->-<-G-----------PGSA-------EKDPG-	42
CACNA1H	-ERGS------ELG--VSPSE--------->-<-S-----------P-AA-------ERGAEL	62
CACNA1I	-PGVTTE----QPG--P--RS--P------>-<PS-----------SPPG-------LEEPL-	42
CACNA1S	------------------------------>-<--------------------SSPQDEGLRK	13
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 64 for SCN5A.