Paralogue Annotation for SCN5A residue 67

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 67
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 67

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I62V	Febrile seizures	Low	3	19763161

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	QESRE-GLPEE--EAPRPQLDLQASKKLPD>L<YGNPPQELIGEPLEDLDPFYSTQK-TFI-V	95
SCN1A	----K-KDDDE--NGPKPNSDLEAGKNLPF>I<YGDIPPEMVSEPLEDLDPYYINKK-TFI-V	92
SCN2A	----RKDEDDE--NGPKPNSDLEAGKSLPF>I<YGDIPPEMVSVPLEDLDPYYINKK-TFI-V	93
SCN3A	----Q-DNDDE--NKPKPNSDLEAGKNLPF>I<YGDIPPEMVSEPLEDLDPYYINKK-TFI-V	92
SCN4A	----Q-MEIEE--PERKPRSDLEAGKNLPM>I<YGDPPPEVIGIPLEDLDPYYSNKK-TFI-V	95
SCN7A	----N-EDHEE--EDLKPTPDLEVGKKLPF>I<YGNLSQGMVSEPLEDVDPYYYKKKNTFI-V	82
SCN8A	DGSHR-EDDED--SKPKPNSDLEAGKSLPF>I<YGDIPQGLVAVPLEDFDPYYLTQK-TFV-V	96
SCN9A	----K-KDDDE--EAPKPSSDLEAGKQLPF>I<YGDIPPGMVSEPLEDLDPYYADKK-TFI-V	90
SCN10A	-KHRE-QKDQE--EKPRPQLDLKACNQLPK>F<YGELPAELIGEPLEDLDPFYSTHR-TFM-V	94
SCN11A	----D-QTGEV--PQPRPQLDLKASRKLPK>L<YGDIPRELIGKPLEDLDPFYRNHK-TFM-V	93
CACNA1A	VGSG-GGRGAG--GSRQGGQ--------PG>A<-----------QRMYKQSMAQRARTMAL-Y	62
CACNA1B	-RGG-GAGGAG--GPGPGGLQ-------PG>Q<-----------RVLYKQSIAQRARTMAL-Y	59
CACNA1C	AGLA----PEH--IPTPGAALSWQAAIDAA>R<QAKLMGSAGNATISTVSST-QRKRQQYG-K	88
CACNA1D	SGEG----PTSQPNSSKQTVLSWQAAIDAA>R<QAKAAQTMSTSAPPPVGSLSQRKRQQYA-K	90
CACNA1E	SD-Q-SRNRQG--TPVPA----------SG>Q<-----------AAAYKQTKAQRARTMAL-Y	53
CACNA1F	AGPG----PEWGLCPGP----P-------A>V<--------EGESSGASGLGTPKRRNQHS-K	56
CACNA1G	ND------LSG--AGGRP-----------G>-<----------PGSA-------EKDPG-SAD	45
CACNA1H	GS------ELG--VSPSE-----------S>-<----------P-AA-------ERGAELG-A	64
CACNA1I	VTTE----QPG--P--RS--P-------PS>-<----------SPPG-------LEEPL-D-G	44
CACNA1S	------------------------------>-<-----------------SSPQDEGLRKK-Q	15
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 67 for SCN5A.