Paralogue Annotation for SCN5A residue 939

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 939
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 939

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	V714A	Hemiplegic migraine and episodic ataxia 2	Medium	9	8898206, 10024348, 9488686
SCN11A	L811P	Congenital indifference to pain	High	9	24036948, 25118027

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	-SGQSLCLLVFLLVMVIGNLVVLNLFLALL>L<SSFS-ADNLTAP-DEDREM-NNLQL-ALAR	965
SCN1A	-AGQAMCLTVFMMVMVIGNLVVLNLFLALL>L<SSFS-ADNLAAT-DDDNEM-NNLQI-AVDR	1018
SCN2A	-AGQTMCLTVFMMVMVIGNLVVLNLFLALL>L<SSFS-SDNLAAT-DDDNEM-NNLQI-AVGR	1009
SCN3A	-AGQTMCLIVFMLVMVIGNLVVLNLFLALL>L<SSFS-SDNLAAT-DDDNEM-NNLQI-AVGR	1010
SCN4A	-AGQAMCLTVFLMVMVIGNLVVLNLFLALL>L<SSFS-ADSLAAS-DEDGEM-NNLQI-AIGR	828
SCN7A	-AGQSWCIPFYLMVILIGNLLVLYLFLA-L>V<SSFS-SCKDVTA-EENNEA-KNLQL-AVAR	754
SCN8A	-AGQAMCLIVFMMVMVIGNLVVLNLFLALL>L<SSFS-ADNLAAT-DDDGEM-NNLQI-SVIR	1003
SCN9A	-AGQAMCLIVYMMVMVIGNLVVLNLFLALL>L<SSFS-SDNLTAI-EEDPDA-NNLQI-AVTR	983
SCN10A	-GQKSICLILFLTVMVLGNLVVLNLFIALL>L<NSFS-ADNLTAP-EDDGEV-NNLQV-ALAR	916
SCN11A	-ASSSLCVIVFILITVIGKLVVLNLFIALL>L<NSFS-NEERNGNLEGEARK-TKVQL-ALDR	838
CACNA1A	-QGGMVFSIYFIVLTLFGNYTLLNVFLAIA>V<DNLANAQELTKDEQEEEEA-ANQKL-ALQK	742
CACNA1B	-SKGMFSSFYFIVLTLFGNYTLLNVFLAIA>V<DNLANAQELTKDEEEMEEA-ANQKL-ALQK	738
CACNA1C	SFPGMLVCIYFIILFICGNYILLNVFLAIA>V<DNLADAESLTSAQKEEEEE-KERKK-LART	781
CACNA1D	SSSGMIVCIYFIILFICGNYILLNVFLAIA>V<DNLADAESLNTAQKEEAEE-KERKK-IARK	800
CACNA1E	-SSGMWSAIYFIVLTLFGNYTLLNVFLAIA>V<DNLANAQELTKDEQEEEEA-FNQKH-ALQK	731
CACNA1F	FFPGMLVCIYFIILFICGNYILLNVFLAIA>V<DNLASGDA-GTAKDKGGEK-SNEKDLPQEN	786
CACNA1G	----SWAALYFIALMTFGNYVLFNLLVAIL>V<EGFQ-AEEISKREDASGQL-SCIQL-PVDS	991
CACNA1H	----SWAALYFVALMTFGNYVLFNLLVAIL>V<EGFQ-AEGDANRSDTDEDKTSVHFEEDFHK	1044
CACNA1I	----PWASLYFVALMTFGNYVLFNLLVAIL>V<EGFQAEGDAN-RSYSDEDQSSSNIE-EFDK	890
CACNA1S	SYPGMLVCIYFIILFVCGNYILLNVFLAIA>V<DNLAEAESLTSAQKAKAEE-KKRRK-MSKG	689
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu939Phe	c.2815C>T	Unknown			SIFT: Polyphen: