Paralogue Annotation for SCN5A residue 924

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 924
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 924

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	V977M	Dravet syndrome	High	9	26096185

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	WIETMWDCMEV-----SGQSLCLLVFLLVM>V<IGNLVVLNLFLALLLSSFS-ADNLTAP-DE	952
SCN1A	WIETMWDCMEV-----AGQAMCLTVFMMVM>V<IGNLVVLNLFLALLLSSFS-ADNLAAT-DD	1005
SCN2A	WIETMWDCMEV-----AGQTMCLTVFMMVM>V<IGNLVVLNLFLALLLSSFS-SDNLAAT-DD	996
SCN3A	WIETMWDCMEV-----AGQTMCLIVFMLVM>V<IGNLVVLNLFLALLLSSFS-SDNLAAT-DD	997
SCN4A	WIETMWDCMEV-----AGQAMCLTVFLMVM>V<IGNLVVLNLFLALLLSSFS-ADSLAAS-DE	815
SCN7A	WVETLWDCMEV-----AGQSWCIPFYLMVI>L<IGNLLVLYLFLA-LVSSFS-SCKDVTA-EE	741
SCN8A	WIETMWDCMEV-----AGQAMCLIVFMMVM>V<IGNLVVLNLFLALLLSSFS-ADNLAAT-DD	990
SCN9A	WIETMWDCMEV-----AGQAMCLIVYMMVM>V<IGNLVVLNLFLALLLSSFS-SDNLTAI-EE	970
SCN10A	WIENMWACMEV-----GQKSICLILFLTVM>V<LGNLVVLNLFIALLLNSFS-ADNLTAP-ED	903
SCN11A	WIENMWECMQEAN---ASSSLCVIVFILIT>V<IGKLVVLNLFIALLLNSFS-NEERNGNLEG	825
CACNA1A	WNEVMYDGIKSQGGV-QGGMVFSIYFIVLT>L<FGNYTLLNVFLAIAVDNLANAQELTKDEQE	729
CACNA1B	WNAVMYHGIESQGGV-SKGMFSSFYFIVLT>L<FGNYTLLNVFLAIAVDNLANAQELTKDEEE	725
CACNA1C	WNSVMYDGIMAYGGPSFPGMLVCIYFIILF>I<CGNYILLNVFLAIAVDNLADAESLTSAQKE	768
CACNA1D	WNAVMYDGIMAYGGPSSSGMIVCIYFIILF>I<CGNYILLNVFLAIAVDNLADAESLNTAQKE	787
CACNA1E	WNEVMYNGIRSQGGV-SSGMWSAIYFIVLT>L<FGNYTLLNVFLAIAVDNLANAQELTKDEQE	718
CACNA1F	WNVVMYDGIMAYGGPFFPGMLVCIYFIILF>I<CGNYILLNVFLAIAVDNLASGDA-GTAKDK	772
CACNA1G	WNKVLYNGMAS-T-S----SWAALYFIALM>T<FGNYVLFNLLVAILVEGFQ-AEEISKREDA	978
CACNA1H	WNVVLYNGMAS-T-S----SWAALYFVALM>T<FGNYVLFNLLVAILVEGFQ-AEGDANRSDT	1029
CACNA1I	WNVVLYNGMAS-T-S----PWASLYFVALM>T<FGNYVLFNLLVAILVEGFQAEGDAN-RSYS	876
CACNA1S	WTSMMYNGIMAYGGPSYPGMLVCIYFIILF>V<CGNYILLNVFLAIAVDNLAEAESLTSAQKA	676
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V924I	c.2770G>A	Benign		rs199473177	SIFT: deleterious Polyphen: benign
Reports		Benign		Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
		Benign		An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283