Paralogue Annotation for SCN5A residue 969

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 969
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 969

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN11A	A842P	Painful peripheral neuropathy	Low	2	24776970

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	S-ADNLTAP-DEDREM-NNLQL-ALARIQR>G<LRFVK-------------------------	974
SCN1A	S-ADNLAAT-DDDNEM-NNLQI-AVDRMHK>G<VAYVK-------------------------	1027
SCN2A	S-SDNLAAT-DDDNEM-NNLQI-AVGRMQK>G<IDFVK-------------------------	1018
SCN3A	S-SDNLAAT-DDDNEM-NNLQI-AVGRMQK>G<IDYVK-------------------------	1019
SCN4A	S-ADSLAAS-DEDGEM-NNLQI-AIGRIKL>G<IGFAK-------------------------	837
SCN7A	S-SCKDVTA-EENNEA-KNLQL-AVARIKK>G<INYVL-------------------------	763
SCN8A	S-ADNLAAT-DDDGEM-NNLQI-SVIRIKK>G<VAWTK-------------------------	1012
SCN9A	S-SDNLTAI-EEDPDA-NNLQI-AVTRIKK>G<INYVK-------------------------	992
SCN10A	S-ADNLTAP-EDDGEV-NNLQV-ALARIQV>-<--FGH-------------------------	922
SCN11A	S-NEERNGNLEGEARK-TKVQL-ALDRFRR>A<FCFVR-------------------------	847
CACNA1A	ANAQELTKDEQEEEEA-ANQKL-ALQKAKE>V<AEVSPLSAANMS--------------IAVK	762
CACNA1B	ANAQELTKDEEEMEEA-ANQKL-ALQKAKE>V<AEVSPMSAANIS--------------IAA-	757
CACNA1C	ADAESLTSAQKEEEEE-KERKK-LART--->A<S-----------------------------	783
CACNA1D	ADAESLNTAQKEEAEE-KERKK-IARK--->E<S-----------------------------	802
CACNA1E	ANAQELTKDEQEEEEA-FNQKH-ALQKAKE>V<SPMSAPNMPSIERDRRRRHHMSMWEPRSSH	765
CACNA1F	ASGDA-GTAKDKGGEK-SNEKDLPQEN--->E<G-----------------------------	788
CACNA1G	Q-AEEISKREDASGQL-SCIQL-PVDSQGG>D<ANKS------------ESE-----------	1002
CACNA1H	Q-AEGDANRSDTDEDKTSVHFEEDFHKL-->-<------------------------------	1045
CACNA1I	QAEGDAN-RSYSDEDQSSSNIE-EFDKLQE>-<------------------------------	893
CACNA1S	AEAESLTSAQKAKAEE-KKRRK-MSKGLPD>K<S-----------------------------	694
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G969C	c.2905G>T	Putative Benign		rs140967646	SIFT: deleterious Polyphen: probably damaging