Paralogue Annotation for CACNA1C residue 705

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 705
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 705

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G950E	Myoclonic epilepsy of infancy	High	9	17347258, 22409937
SCN1A	G950R	Dravet syndrome C ?	High	9	21248271
SCN5A	G897E	Brugada syndrome	High	9	25904541

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 CACNA1C.

CACNA1C	-------MQTRRSTFDNFPQSLLTVFQILT>G<EDWNSVMYDGIMAYGGPSFPGMLVCIYFII	735
CACNA1A	-------G-TPPTNFDTFPAAIMTVFQILT>G<EDWNEVMYDGIKSQGGV-QGGMVFSIYFIV	696
CACNA1B	-------E-TPTTNFDTFPAAILTVFQILT>G<EDWNAVMYHGIESQGGV-SKGMFSSFYFIV	692
CACNA1D	-------TQTKRSTFDNFPQALLTVFQILT>G<EDWNAVMYDGIMAYGGPSSSGMIVCIYFII	754
CACNA1E	-------G-TPSANFDTFPAAIMTVFQILT>G<EDWNEVMYNGIRSQGGV-SSGMWSAIYFIV	685
CACNA1F	-------THTKRSTFDTFPQALLTVFQILT>G<EDWNVVMYDGIMAYGGPFFPGMLVCIYFII	740
CACNA1G	---DG-DTLPDRKNFDSLLWAIVTVFQILT>Q<EDWNKVLYNGMAS-T-S----SWAALYFIA	946
CACNA1H	---TG-DTVPDRKNFDSLLWAIVTVFQILT>Q<EDWNVVLYNGMAS-T-S----SWAALYFVA	997
CACNA1I	---TG-DTVPDRKNFDSLLWAIVTVFQILT>Q<EDWNVVLYNGMAS-T-S----PWASLYFVA	844
CACNA1S	-------TEVRRSNFDNFPQALISVFQVLT>G<EDWTSMMYNGIMAYGGPSYPGMLVCIYFII	643
SCN10A	-I-SAPHEDWPRWHMHDFFHSFLIVFRILC>G<E-WIENMWACMEV-----GQKSICLILFLT	872
SCN11A	NPTGPTVSCLRHWHMGDFWHSFLVVFRILC>G<E-WIENMWECMQEAN---ASSSLCVIVFIL	793
SCN1A	-I-AS-DCQLPRWHMNDFFHSFLIVFRVLC>G<E-WIETMWDCMEV-----AGQAMCLTVFMM	974
SCN2A	-I-SN-DCELPRWHMHDFFHSFLIVFRVLC>G<E-WIETMWDCMEV-----AGQTMCLTVFMM	965
SCN3A	-I-ND-DCTLPRWHMNDFFHSFLIVFRVLC>G<E-WIETMWDCMEV-----AGQTMCLIVFML	966
SCN4A	-I-AL-DCNLPRWHMHDFFHSFLIVFRILC>G<E-WIETMWDCMEV-----AGQAMCLTVFLM	784
SCN5A	-D-SG---LLPRWHMMDFFHAFLIIFRILC>G<E-WIETMWDCMEV-----SGQSLCLLVFLL	921
SCN7A	-I-DK-DCQLPRWHMHDFFHSFLNVFRILC>G<E-WVETLWDCMEV-----AGQSWCIPFYLM	711
SCN8A	-I-NQ-DCELPRWHMHDFFHSFLIVFRVLC>G<E-WIETMWDCMEV-----AGQAMCLIVFMM	959
SCN9A	-I-ND-DCTLPRWHMNDFFHSFLIVFRVLC>G<E-WIETMWDCMEV-----AGQAMCLIVYMM	939
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gly705Arg	c.2113G>A	Unknown			SIFT: Polyphen: