Paralogue Annotation for CACNA1C residue 120

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 120
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 120

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I124N	Dravet syndrome	High	9	18930999, 20522430
CACNA1F	I88N	Congenital stationary night blindness	High	9	25307992

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	KKQGSTTATRPPRALLCLTLKNPIRRACIS>I<VEWKPFEIIILLTIFANCVALAIYIPFPED	150
CACNA1A	PIPVRQNCLTVNRSLFLFSEDNVVRKYAKK>I<TEWPPFEYMILATIIANCIVLALEQHLPDD	124
CACNA1B	PIPVKQNCFTVNRSLFVFSEDNVVRKYAKR>I<TEWPPFEYMILATIIANCIVLALEQHLPDG	121
CACNA1D	KKQGNSSNSRPARALFCLSLNNPIRRACIS>I<VEWKPFDIFILLAIFANCVALAIYIPFPED	152
CACNA1E	PIPVRQNCFTVNRSLFIFGEDNIVRKYAKK>L<IDWPPFEYMILATIIANCIVLALEQHLPED	115
CACNA1F	KTVAVASAQRSPRALFCLTLANPLRRSCIS>I<VEWKPFDILILLTIFANCVALGVYIPFPED	118
CACNA1G	EAEGLPYPALAPVVFFYLSQDSRPRSWCLR>T<VCNPWFERISMLVILLNCVTLGMFRPCEDI	107
CACNA1H	EEQRVPYPALAATVFFCLGQTTRPRSWCLR>L<VCNPWFEHVSMLVIMLNCVTLGMFRPCEDV	126
CACNA1I	ADPHVPHPDLAPIAFFCLRQTTSPRNWCIK>M<VCNPWFECVSMLVILLNCVTLGMYQPCDDM	105
CACNA1S	KKPVPEILPRPPRALFCLTLENPLRKACIS>I<VEWKPFETIILLTIFANCVALAVYLPMPED	77
SCN10A	NKGRTISRFSATRALWLFSPFNLIRRTAIK>V<SVHSWFSLFITVTILVNCVCMTRT------	150
SCN11A	NRKRTIYRFSAKHALFIFGPFNSIRSLAIR>V<SVHSLFSMFIIGTVIINCVFMATGPA-K--	152
SCN1A	NKGKAIFRFSATSALYILTPFNPLRKIAIK>I<LVHSLFSMLIMCTILTNCVFMTMS------	148
SCN2A	NKGKAISRFSATPALYILTPFNPIRKLAIK>I<LVHSLFNMLIMCTILTNCVFMTMS------	149
SCN3A	NKGKAIFRFSATSALYILTPLNPVRKIAIK>I<LVHSLFSMLIMCTILTNCVFMTLS------	148
SCN4A	NKGKAIFRFSATPALYLLSPFSVVRRGAIK>V<LIHALFSMFIMITILTNCVFMTMS------	151
SCN5A	NKGKTIFRFSATNALYVLSPFHPIRRAAVK>I<LVHSLFNMLIMCTILTNCVFMAQH------	151
SCN7A	NKNRTIFRFNAASILCTLSPFNCIRRTTIK>V<LVHPFFQLFILISVLIDCVFMSLT------	138
SCN8A	NRGKTLFRFSATPALYILSPFNLIRRIAIK>I<LIHSVFSMIIMCTILTNCVFMTFS------	152
SCN9A	NKGKTIFRFNATPALYMLSPFSPLRRISIK>I<LVHSLFSMLIMCTILTNCIFMTMN------	146
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 120 for CACNA1C.