Paralogue Annotation for SCN5A residue 981

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 981
Reference Amino Acid: C - Cysteine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 981

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I1034T	Autism ?	Low	3	12610651

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	------------------------RTTWDF>C<C-----------GLLRQ-RPQKPAALA-A-	997
SCN1A	------------------------RKIYEF>I<Q-----------QSFIR-KQKILDEIK-PL	1051
SCN2A	------------------------RKIREF>I<Q-----------KAFVR-KQKALDEIK-PL	1042
SCN3A	------------------------NKMREC>F<Q-----------KAFFR-KPKVI-EIH-E-	1041
SCN4A	------------------------AFLLGL>L<H-----------GKILS-PKDIMLSLG-EA	861
SCN7A	------------------------LKILCK>T<Q-----------NVP-------KDTMD-HV	781
SCN8A	------------------------LKVHAF>M<Q-----------AHFKQ-R--EADEVK-PL	1034
SCN9A	------------------------QTLREF>I<L-----------KAFSK-KPKISREIR-QA	1016
SCN10A	---------------------RTKQALCSF>F<S-----------RSCPFPQPKAEPELVVKL	951
SCN11A	------------------------HTLEHF>C<H-----------KWCRK-Q-NLPQQ-----	866
CACNA1A	-----------IAVKEQQKNQKPAKSVWEQ>R<TSEM--RKQNLLASREA-L-------Y-NE	797
CACNA1B	-----------IAA--RQQNSAKARSVWEQ>R<ASQL--RLQNLRASCEA-L-------Y-SE	791
CACNA1C	-------------------P---------->-<------------------------------	784
CACNA1D	-------------------L---------->-<------------------------------	803
CACNA1E	RRRHHMSMWEPRSSHLRERRRRHHMSVWEQ>R<TSQL--RKHMQMSSQEA-L-------N-RE	800
CACNA1F	-------------------L---------->-<------------------------------	789
CACNA1G	-ESE---------------PDFFSPSLDGD>G<DRKKCLALVSLGEHPEL-R-------K-SL	1035
CACNA1H	-------------------------RELQT>T<ELKMCSLAVTPNGHLEG-R-------G-SL	1072
CACNA1I	-------------------------GLDSS>G<DPKLCPIPMTPNGHLDP-S-------L-PL	920
CACNA1S	-------------------E---------->-<------------------------------	695
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C981F	c.2942G>T	Inherited Arrhythmia	LQTS	rs199473591	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