Paralogue Annotation for CACNA1C residue 394

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 394
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 394

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	F412I	Generalized epilepsy with febrile seizures plus	High	9	20682179
SCN10A	F386C	Brugada syndrome	High	9	24998131

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	GWTDVLYWVNDAVGRDWPWIYFVTLIIIGS>F<FVLNLVLGVLSGEFSKEREKAKARGDFQKL	424
CACNA1A	GWTDLLYNSNDASGNTWNWLYFIPLIIIGS>F<FMLNLVLGVLSGEFAKERERVENRRAFLKL	379
CACNA1B	GWTDILYNTNDAAGNTWNWLYFIPLIIIGS>F<FMLNLVLGVLSGEFAKERERVENRRAFLKL	375
CACNA1D	GWTDVLYWVNDAIGWEWPWVYFVSLIILGS>F<FVLNLVLGVLSGEFSKEREKAKARGDFQKL	425
CACNA1E	GWTTVLYNTNDALGATWNWLYFIPLIIIGS>F<FVLNLVLGVLSGEFAKERERVENRRAFMKL	370
CACNA1F	GWTDVLYWMQDAMGYELPWVYFVSLVIFGS>F<FVLNLVLGVLSGEFSKEREKAKARGDFQKQ	391
CACNA1G	GWVDIMYFVMDAHSF-YNFIYFILLIIVGS>F<FMINLCLVVIATQFSETKQRESQLMREQRV	414
CACNA1H	GWVDIMYYVMDAHSF-YNFIYFILLIIVGS>F<FMINLCLVVIATQFSETKQRESQLMREQRA	438
CACNA1I	GWVEIMYYVMDAHSF-YNFIYFILLIIVGS>F<FMINLCLVVIATQFSETKQREHRLMLEQRQ	417
CACNA1S	GWTDVLYWVNDAIGNEWPWIYFVTLILLGS>F<FILNLVLGVLSGEFTKEREKAKSRGTFQKL	353
SCN10A	SWERLYQQTLRTSGKIY-MIFFVLVIFLGS>F<YLVNLILAVVTMAYEEQNQATTDEIEAK-E	415
SCN11A	SWEKLYQQTLRTTGLYS-VFFFIVVIFLGS>F<YLINLTLAVVTMAYEEQNKNVAAEIEAK-E	418
SCN1A	FWENLYQLTLRAAGKTY-MIFFVLVIFLGS>F<YLINLILAVVAMAYEEQNQATLEEAEQK-E	441
SCN2A	FWENLYQLTLRAAGKTY-MIFFVLVIFLGS>F<YLINLILAVVAMAYEEQNQATLEEAEQK-E	443
SCN3A	YWENLYQLTLRAAGKTY-MIFFVLVIFLGS>F<YLVNLILAVVAMAYEEQNQATLEEAEQK-E	442
SCN4A	YWENLFQLTLRAAGKTY-MIFFVVIIFLGS>F<YLINLILAVVAMAYAEQNEATLAEDKEK-E	465
SCN5A	CWERLYQQTLRSAGKIY-MIFFMLVIFLGS>F<YLVNLILAVVAMAYEEQNQATIAETEEK-E	431
SCN7A	YPEVLYHQILYASGKVY-MIFFVVVSFLFS>F<YMASLFLGILAMAYEEEKQRVGEISKKI-E	412
SCN8A	YWENLYQLTLRAAGKTY-MIFFVLVIFVGS>F<YLVNLILAVVAMAYEEQNQATLEEAEQK-E	429
SCN9A	YWENLYQQTLRAAGKTY-MIFFVVVIFLGS>F<YLINLILAVVAMAYEEQNQANIEEAKQK-E	420
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F394L	c.1180T>C	Putative Benign			SIFT: Polyphen: