Paralogue Annotation for CACNA1C residue 2010

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2010
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2010

No paralogue variants have been mapped to residue 2010 for CACNA1C.

CACNA1C	SEKLNSSFPSIHCGSWAETTPGGGGSSAAR>R<VRPVSLMVPSQA---GAPGRQFHGSASSLV	2037
CACNA1A	------------------------------>-<------------------------------
CACNA1B	----S--PIHFA------------------>-<-GAQTSLPAFSP---GRLSRGLSEHNA---	2238
CACNA1D	LDQVNGSLPSLHRSSWYTDEP----DISYR>T<FTPASLTVPSSF---RNKNSDKQRSADSLV	2082
CACNA1E	----H--AGSIS------------------>-<-PPADGSEEGSP---LT-SQALESNNACLT	2208
CACNA1F	GEGYLGRS-----------------SGPLR>T<FT--CLHVPGTH---SDPSHGKRGSADSLV	1899
CACNA1G	AQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ>P<HLGTDPSNLGG---QPLGGPGSRPKKKLSP	2308
CACNA1H	AQGFLDKPGR-ADEQWRPSAELGSGEP--->-<---GEAKAWGP---EAEPALGARRKKKMSP	2189
CACNA1I	GRGLFSLRG--LRAHQRSHSSGGSTSPGCT>H<HDSMDPSDEEGRGGAGGGGAGSEHSETLSS	2129
CACNA1S	EDRKSSTPGSLHE-----ETP--------->-<------HSRSTR---ENTSRCSAPATALLI	1788
SCN10A	-------E---------------------->-<---------------------------A--	1946
SCN11A	------------------------------>-<------------------------------
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN5A	-------L---------------------->-<---------------------------A--	2002
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<------------------------------
SCN9A	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2010I	c.6029G>T	Putative Benign			SIFT: Polyphen: