Paralogue Annotation for SCN5A residue 57

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 57
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 57

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN8A	D58N	Intellectual disability and epilepsy	Medium	2	25725044, 25725044

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	K-QARGSTTLQESRE-GLPEE--EAPRPQL>D<LQASKKLPDLYGNPPQELIGEPLEDLDPFY	87
SCN1A	E-KAKNPKPD----K-KDDDE--NGPKPNS>D<LEAGKNLPFIYGDIPPEMVSEPLEDLDPYY	84
SCN2A	E-KAKRPKQE----RKDEDDE--NGPKPNS>D<LEAGKSLPFIYGDIPPEMVSVPLEDLDPYY	85
SCN3A	E-KAKKPKKE----Q-DNDDE--NKPKPNS>D<LEAGKNLPFIYGDIPPEMVSEPLEDLDPYY	84
SCN4A	E-EARLQRNK----Q-MEIEE--PERKPRS>D<LEAGKNLPMIYGDPPPEVIGIPLEDLDPYY	87
SCN7A	T--------H----N-EDHEE--EDLKPTP>D<LEVGKKLPFIYGNLSQGMVSEPLEDVDPYY	73
SCN8A	S-KLKKPPKADGSHR-EDDED--SKPKPNS>D<LEAGKSLPFIYGDIPQGLVAVPLEDFDPYY	88
SCN9A	R-KSKEPKEE----K-KDDDE--EAPKPSS>D<LEAGKQLPFIYGDIPPGMVSEPLEDLDPYY	82
SCN10A	KQGT-KKARE-KHRE-QKDQE--EKPRPQL>D<LKACNQLPKFYGELPAELIGEPLEDLDPFY	86
SCN11A	Q-KEKKKSK-----D-QTGEV--PQPRPQL>D<LKASRKLPKLYGDIPRELIGKPLEDLDPFY	85
CACNA1A	---------VVGSG-GGRGAG--GSRQGGQ>-<-------PGA-----------QRMYKQSMA	53
CACNA1B	-----------RGG-GAGGAG--GPGPGGL>Q<-------PGQ-----------RVLYKQSIA	50
CACNA1C	-----A-NAAAGLA----PEH--IPTPGAA>L<SWQAAIDAARQAKLMGSAGNATISTVSST-	79
CACNA1D	-----R-LPLSGEG----PTSQPNSSKQTV>L<SWQAAIDAARQAKAAQTMSTSAPPPVGSLS	81
CACNA1E	----------SD-Q-SRNRQG--TPVPA-->-<-------SGQ-----------AAAYKQTKA	44
CACNA1F	---------GAGPG----PEWGLCPGP--->-<P-------AV--------EGESSGASGLGT	47
CACNA1G	-----M--RLND------LSG--AGGRP-->-<--------G-----------PGSA------	37
CACNA1H	-----A--ERGS------ELG--VSPSE-->-<--------S-----------P-AA------	56
CACNA1I	-----E--PGVTTE----QPG--P--RS-->P<-------PS-----------SPPG------	37
CACNA1S	------------------------------>-<---------------------------SSP	6
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 57 for SCN5A.