Paralogue Annotation for SCN5A residue 959

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 959
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 959

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	L1003I	Neonatal-infantile seizures	High	4	15048894
CACNA1S	R683C	Exertional heat illness	Medium	4	25658027

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	NLFLALLLSSFS-ADNLTAP-DEDREM-NN>L<QL-ALARIQRGLRFVK--------------	974
SCN1A	NLFLALLLSSFS-ADNLAAT-DDDNEM-NN>L<QI-AVDRMHKGVAYVK--------------	1027
SCN2A	NLFLALLLSSFS-SDNLAAT-DDDNEM-NN>L<QI-AVGRMQKGIDFVK--------------	1018
SCN3A	NLFLALLLSSFS-SDNLAAT-DDDNEM-NN>L<QI-AVGRMQKGIDYVK--------------	1019
SCN4A	NLFLALLLSSFS-ADSLAAS-DEDGEM-NN>L<QI-AIGRIKLGIGFAK--------------	837
SCN7A	YLFLA-LVSSFS-SCKDVTA-EENNEA-KN>L<QL-AVARIKKGINYVL--------------	763
SCN8A	NLFLALLLSSFS-ADNLAAT-DDDGEM-NN>L<QI-SVIRIKKGVAWTK--------------	1012
SCN9A	NLFLALLLSSFS-SDNLTAI-EEDPDA-NN>L<QI-AVTRIKKGINYVK--------------	992
SCN10A	NLFIALLLNSFS-ADNLTAP-EDDGEV-NN>L<QV-ALARIQV---FGH--------------	922
SCN11A	NLFIALLLNSFS-NEERNGNLEGEARK-TK>V<QL-ALDRFRRAFCFVR--------------	847
CACNA1A	NVFLAIAVDNLANAQELTKDEQEEEEA-AN>Q<KL-ALQKAKEVAEVSPLSAANMS-------	758
CACNA1B	NVFLAIAVDNLANAQELTKDEEEMEEA-AN>Q<KL-ALQKAKEVAEVSPMSAANIS-------	754
CACNA1C	NVFLAIAVDNLADAESLTSAQKEEEEE-KE>R<KK-LART---AS------------------	783
CACNA1D	NVFLAIAVDNLADAESLNTAQKEEAEE-KE>R<KK-IARK---ES------------------	802
CACNA1E	NVFLAIAVDNLANAQELTKDEQEEEEA-FN>Q<KH-ALQKAKEVSPMSAPNMPSIERDRRRRH	754
CACNA1F	NVFLAIAVDNLASGDA-GTAKDKGGEK-SN>E<KDLPQEN---EG------------------	788
CACNA1G	NLLVAILVEGFQ-AEEISKREDASGQL-SC>I<QL-PVDSQGGDANKS------------ESE	1002
CACNA1H	NLLVAILVEGFQ-AEGDANRSDTDEDKTSV>H<FEEDFHKL----------------------	1045
CACNA1I	NLLVAILVEGFQAEGDAN-RSYSDEDQSSS>N<IE-EFDKLQE--------------------	893
CACNA1S	NVFLAIAVDNLAEAESLTSAQKAKAEE-KK>R<RK-MSKGLPDKS------------------	694
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L959F	c.2875C>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging