Paralogue Annotation for SCN5A residue 48

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 48
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 48

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D45N	Epilepsy ?	Low	2	21248271, 23708187

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	SLAAIEKRMAEK-QARGSTTLQESRE-GLP>E<E--EAPRPQLDLQASKKLPDLYGNPPQELI	76
SCN1A	SLAAIERRIAEE-KAKNPKPD----K-KDD>D<E--NGPKPNSDLEAGKNLPFIYGDIPPEMV	73
SCN2A	SLAAIEQRIAEE-KAKRPKQE----RKDED>D<E--NGPKPNSDLEAGKSLPFIYGDIPPEMV	74
SCN3A	SLAAIEKRAAEE-KAKKPKKE----Q-DND>D<E--NKPKPNSDLEAGKNLPFIYGDIPPEMV	73
SCN4A	SLAAIEQRAVEE-EARLQRNK----Q-MEI>E<E--PERKPRSDLEAGKNLPMIYGDPPPEVI	76
SCN7A	SFELIKQHIAKT--------H----N-EDH>E<E--EDLKPTPDLEVGKKLPFIYGNLSQGMV	62
SCN8A	SLANIERRIAES-KLKKPPKADGSHR-EDD>E<D--SKPKPNSDLEAGKSLPFIYGDIPQGLV	77
SCN9A	SLALIEQRIAER-KSKEPKEE----K-KDD>D<E--EAPKPSSDLEAGKQLPFIYGDIPPGMV	71
SCN10A	SLVEIEKQIAAKQGT-KKARE-KHRE-QKD>Q<E--EKPRPQLDLKACNQLPKFYGELPAELI	75
SCN11A	SLAAIEKRIAIQ-KEKKKSK-----D-QTG>E<V--PQPRPQLDLKASRKLPKLYGDIPRELI	74
CACNA1A	SGAAAGV-------------VVGSG-GGRG>A<G--GSRQGGQ--------PGA---------	44
CACNA1B	GGERA-----------------RGG-GAGG>A<G--GPGPGGLQ-------PGQ---------	41
CACNA1C	-PAHANMN--------A-NAAAGLA----P>E<H--IPTPGAALSWQAAIDAARQAKLMGSAG	69
CACNA1D	-ANYARGT--------R-LPLSGEG----P>T<SQPNSSKQTVLSWQAAIDAARQAKAAQTMS	70
CACNA1E	-GDGD----------------SD-Q-SRNR>Q<G--TPVPA----------SGQ---------	35
CACNA1F	-PSPAN--------------GAGPG----P>E<WGLCPGP----P-------AV--------E	36
CACNA1G	-------F--------M--RLND------L>S<G--AGGRP-----------G----------	33
CACNA1H	SPGAPGRE--------A--ERGS------E>L<G--VSPSE-----------S----------	53
CACNA1I	----------------E--PGVTTE----Q>P<G--P--RS--P-------PS----------	33
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E48K	c.142G>A	Inherited Arrhythmia	LQTS	rs199473048	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085