Paralogue Annotation for CACNA1C residue 232

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 232
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 232

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	N212D	Ohtahara syndrome	Medium	8	23935176
SCN8A	N215D	Epileptic encephalopathy	Medium	8	25568300

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	VVVGLFSAILEQATKA-DGANALGGKGAGF>D<VKALRAFRVLRPLRLVSGVPSLQVVLNSII	262
CACNA1A	VLTGILATVGTEF----------------->D<LRTLRAVRVLRPLKLVSGIPSLQVVLKSIM	220
CACNA1B	VLTGILATAGTDF----------------->D<LRTLRAVRVLRPLKLVSGIPSLQVVLKSIM	217
CACNA1D	VIVGLFSVILEQLTKETEGGNHSSGKSGGF>D<VKALRAFRVLRPLRLVSGVPSLQVVLNSII	265
CACNA1E	VLSGILATAGTHFN-------------THV>D<LRTLRAVRVLRPLKLVSGIPSLQIVLKSIM	215
CACNA1F	VVVGLFSVLLEQGPGRPGDAPHTGGKPGGF>D<VKALRAFRVLRPLRLVSGVPSLHIVLNSIM	231
CACNA1G	VIAGMLEYSLDLQ---------------NV>S<FSAVRTVRVLRPLRAINRVPSMRILVTLLL	205
CACNA1H	VVAGMMEYSLDGH---------------NV>S<LSAIRTVRVLRPLRAINRVPSMRILVTLLL	224
CACNA1I	VMAGMVEYSLDLQ---------------NI>N<LSAIRTVRVLRPLKAINRVPSMRILVNLLL	203
CACNA1S	VFLGVFTVILEQVNVIQSHTAPMSSKGAGL>D<VKALRAFRVLRPLRLVSGVPSLQVVLNSIF	190
SCN10A	ITLAYVGTAIDLR----------------->G<ISGLRTFRVLRALKTVSVIPGLKVIVGALI	240
SCN11A	IGIAIVSYIPGIT----------------I>K<LLPLRTFRVFRALKAISVVSRLKVIVGALL	247
SCN1A	ITFAYVTEFVDLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	241
SCN2A	ITFAYVTEFVDLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	242
SCN3A	IVMAYVTEFVDLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	241
SCN4A	IMMAYLTEFVDLG----------------->N<ISALRTFRVLRALKTITVIPGLKTIVGALI	244
SCN5A	IIMAYVSENIKLG----------------->N<LSALRTFRVLRALKTISVIPGLKTIVGALI	244
SCN7A	TVFEVIIRYSPLD----------------->F<IPTLQTARTLRILKIIPLNQGLKSLVGVLI	231
SCN8A	IMMAYITEFVNLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	245
SCN9A	IVFAYLTEFVNLG----------------->N<VSALRTFRVLRALKTISVIPGLKTIVGALI	239
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D232Y	c.694G>T	Putative Benign		rs376872233	SIFT: deleterious Polyphen: probably damaging