Paralogue Annotation for CACNA1C residue 1235

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1235
Reference Amino Acid: C - Cysteine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to CACNA1C residue 1235

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	T1544P	Long QT syndrome	Medium	9	23631430

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	-NQHQYKVWYVVNSTYFEYLMFVLILLNTI>C<LAMQHYGQSCLFKIAMNILNMLFTGLFTVE	1265
CACNA1A	KQSFQYRMWQFVVSPPFEYTIMAMIALNTI>V<LMMKFYGASVAYENALRVFNIVFTSLFSLE	1612
CACNA1B	RQSFQYKTWTFVVSPPFEYFIMAMIALNTV>V<LMMKFYDAPYEYELMLKCLNIVFTSMFSME	1518
CACNA1D	-NPYQYKFWYVVNSSPFEYMMFVLIMLNTL>C<LAMQHYEQSKMFNDAMDILNMVFTGVFTVE	1271
CACNA1E	RHTFQYRVWHFVVSPSFEYTIMAMIALNTV>V<LMMKYYSAPCTYELALKYLNIAFTMVFSLE	1524
CACNA1F	-NPHQYRVWATVNSAAFEYLMFLLILLNTV>A<LAMQHYEQTAPFNYAMDILNMVFTGLFTIE	1236
CACNA1G	YSRFRLLVHHLCTSHYLDLFITGVIGLNVV>T<MAMEHYQQPQILDEALKICNYIFTVIFVLE	1657
CACNA1H	YSPTRRSIHSLCTSHYLDLFITFIICVNVI>T<MSMEHYNQPKSLDEALKYCNYVFTIVFVFE	1663
CACNA1I	YCHTRLLIHSMCTSHYLDIFITFIICLNVV>T<MSLEHYNQPTSLETALKYCNYMFTTVFVLE	1533
CACNA1S	-NPYQYQVWYIVTSSYFEYLMFALIMLNTI>C<LGMQHYNQSEQMNHISDILNVAFTIIFTLE	1164
SCN10A	LNKFQGFVFDIVTRQAFDITIMVLICLNMI>T<MMVETDDQSEEKTKILGKINQFFVAVFTGE	1522
SCN11A	LNKCQGLVFDIVTSQIFDIIIISLIILNMI>S<MMAESYNQPKAMKSILDHLNWVFVVIFTLE	1412
SCN1A	GNKFQGMVFDFVTRQVFDISIMILICLNMV>T<MMVETDDQSEYVTTILSRINLVFIVLFTGE	1587
SCN2A	ANKFQGMVFDFVTKQVFDISIMILICLNMV>T<MMVETDDQSQEMTNILYWINLVFIVLFTGE	1577
SCN3A	ANKFQGMVFDFVTRQVFDISIMILICLNMV>T<MMVETDDQGKYMTLVLSRINLVFIVLFTGE	1572
SCN4A	QNKIQGMVYDLVTKQAFDITIMILICLNMV>T<MMVETDNQSQLKVDILYNINMIFIIIFTGE	1399
SCN5A	LNKYQGFIFDIVTKQAFDVTIMFLICLNMV>T<MMVETDDQSPEKINILAKINLLFVAIFTGE	1574
SCN7A	LNKLQGFIFDVVTSQAFNVIVMVLICFQAI>A<MMIDTDVQSLQMSIALYWINSIFVMLYTME	1297
SCN8A	LNKIQGIVFDFVTQQAFDIVIMMLICLNMV>T<MMVETDTQSKQMENILYWINLVFVIFFTCE	1568
SCN9A	GNKIQGCIFDLVTNQAFDISIMVLICLNMV>T<MMVEKEGQSQHMTEVLYWINVVFIILFTGE	1550
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C1235F	c.3704G>T	Putative Benign			SIFT: Polyphen: