Paralogue Annotation for CACNA1C residue 2089

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2089
Reference Amino Acid: S - Serine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2089

No paralogue variants have been mapped to residue 2089 for CACNA1C.

CACNA1C	T-QELADACDMTIEEMESAADNILSGGAPQ>S<PNGALLPFVNCRDAG---QDRAGGEEDA--	2114
CACNA1A	------------------------------>-<------------------------------
CACNA1B	R-LDSEASVHALPEDTLTFEEAVATNSGRS>S<RTSYVSSLTSQSHPL---RRVPNGYHCTLG	2320
CACNA1D	K-HEIADACDLTIDEMESAASTLLNGNVRP>R<ANGDVGPLSHRQDYE---LQDFGPGYSD--	2159
CACNA1E	H-EDSHAS-DCGEEETLTFEAAVATSLGRS>N<TIGSAPPLRHSW-------QMPNGHYRRRR	2287
CACNA1F	K-QEIADACRLTLDEMDNAASDLLAQGTSS>-<------------------------LYSD--	1954
CACNA1G	LRRRAPSSDSKDPLASGPPDSMAASPSPKK>D<VLSLSGLSSDPADLD---------------	2376
CACNA1H	LTVPSFAFEPLDLGVPSGDPFLDGSHSVTP>E<SRASSSGAIVPLEPPESEPPMPVGDPPEKR	2321
CACNA1I	PARKFSSTSSLAAPGRPHAAALAHGLARSP>S<WAADRSKDPPGRAPLPMGLGPLAPP-----	2204
CACNA1S	G-QALADACQMEPEEVEIMATELLKGREAP>E<GMASSLGCLNL-------------------	1851
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.S2089R	c.6267C>A	Putative Benign			SIFT: Polyphen: