Paralogue Annotation for CACNA1C residue 700

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 700
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 700

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	F892I	Brugada syndrome	High	9	11901046
SCN1A	F945L	Myoclonic epilepsy of infancy	High	9	17347258

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	------------MQTRRSTFDNFPQSLLTV>F<QILTGEDWNSVMYDGIMAYGGPSFPGMLVC	730
CACNA1A	------------G-TPPTNFDTFPAAIMTV>F<QILTGEDWNEVMYDGIKSQGGV-QGGMVFS	691
CACNA1B	------------E-TPTTNFDTFPAAILTV>F<QILTGEDWNAVMYHGIESQGGV-SKGMFSS	687
CACNA1D	------------TQTKRSTFDNFPQALLTV>F<QILTGEDWNAVMYDGIMAYGGPSSSGMIVC	749
CACNA1E	------------G-TPSANFDTFPAAIMTV>F<QILTGEDWNEVMYNGIRSQGGV-SSGMWSA	680
CACNA1F	------------THTKRSTFDTFPQALLTV>F<QILTGEDWNVVMYDGIMAYGGPFFPGMLVC	735
CACNA1G	--------DG-DTLPDRKNFDSLLWAIVTV>F<QILTQEDWNKVLYNGMAS-T-S----SWAA	941
CACNA1H	--------TG-DTVPDRKNFDSLLWAIVTV>F<QILTQEDWNVVLYNGMAS-T-S----SWAA	992
CACNA1I	--------TG-DTVPDRKNFDSLLWAIVTV>F<QILTQEDWNVVLYNGMAS-T-S----PWAS	839
CACNA1S	------------TEVRRSNFDNFPQALISV>F<QVLTGEDWTSMMYNGIMAYGGPSYPGMLVC	638
SCN10A	KN----I-SAPHEDWPRWHMHDFFHSFLIV>F<RILCGE-WIENMWACMEV-----GQKSICL	867
SCN11A	SPKLCNPTGPTVSCLRHWHMGDFWHSFLVV>F<RILCGE-WIENMWECMQEAN---ASSSLCV	788
SCN1A	CK----I-AS-DCQLPRWHMNDFFHSFLIV>F<RVLCGE-WIETMWDCMEV-----AGQAMCL	969
SCN2A	CK----I-SN-DCELPRWHMHDFFHSFLIV>F<RVLCGE-WIETMWDCMEV-----AGQTMCL	960
SCN3A	CK----I-ND-DCTLPRWHMNDFFHSFLIV>F<RVLCGE-WIETMWDCMEV-----AGQTMCL	961
SCN4A	CK----I-AL-DCNLPRWHMHDFFHSFLIV>F<RILCGE-WIETMWDCMEV-----AGQAMCL	779
SCN5A	DS----D-SG---LLPRWHMMDFFHAFLII>F<RILCGE-WIETMWDCMEV-----SGQSLCL	916
SCN7A	CH----I-DK-DCQLPRWHMHDFFHSFLNV>F<RILCGE-WVETLWDCMEV-----AGQSWCI	706
SCN8A	CK----I-NQ-DCELPRWHMHDFFHSFLIV>F<RVLCGE-WIETMWDCMEV-----AGQAMCL	954
SCN9A	CK----I-ND-DCTLPRWHMNDFFHSFLIV>F<RVLCGE-WIETMWDCMEV-----AGQAMCL	934
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F700V	c.2098T>G	Putative Benign			SIFT: Polyphen: