Paralogue Annotation for CACNA1C residue 2102

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2102
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2102

No paralogue variants have been mapped to residue 2102 for CACNA1C.

CACNA1C	EEMESAADNILSGGAPQSPNGALLPFVNCR>D<AG---QDRAGGEEDA----------GCV--	2117
CACNA1A	------------------------------>-<------------------------------
CACNA1B	EDTLTFEEAVATNSGRSSRTSYVSSLTSQS>H<PL---RRVPNGYHCTLG-LS----------	2322
CACNA1D	DEMESAASTLLNGNVRPRANGDVGPLSHRQ>D<YE---LQDFGPGYSD----------E-E--	2161
CACNA1E	EETLTFEAAVATSLGRSNTIGSAPPLRHSW>-<------QMPNGHYRRRR-RG-----GPG--	2292
CACNA1F	DEMDNAASDLLAQGTSS------------->-<-----------LYSD----------E-E--	1956
CACNA1G	LASGPPDSMAASPSPKKDVLSLSGLSSDPA>D<LD----------------------------	2376
CACNA1H	GVPSGDPFLDGSHSVTPESRASSSGAIVPL>E<PPESEPPMPVGDPPEKRRGLYLTVPQ-CPL	2333
CACNA1I	PGRPHAAALAHGLARSPSWAADRSKDPPGR>A<PLPMGLGPLAPP------------------	2204
CACNA1S	EEVEIMATELLKGREAPEGMASSLGCLNL->-<---------------------------G--	1852
SCN10A	------------------------------>-<------------------------------
SCN11A	------------------------------>-<------------------------------
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN5A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<------------------------------
SCN9A	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2102E	c.6306C>A	Putative Benign			SIFT: Polyphen: