Paralogue Annotation for CACNA1C residue 1717

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1717
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1717

No paralogue variants have been mapped to residue 1717 for CACNA1C.

CACNA1C	FRRAGGLFGNHV-SYYQSDG--------RS>A<FPQTFT---T-------QRPLHINKAGSS-	1736
CACNA1A	QSVEMREMGRDG-YSDSEHYLPMEGQGRAA>S<MPRLPA------------------------	2099
CACNA1B	LAVDVQMQSITRRGPDGEPQPGLESQGRAA>S<MPRLAA------------------------	2008
CACNA1D	FKRNGALLGNHV-NHVNSDR--------RD>S<LQQTNT---T-------HRPLHVQRPSIPP	1740
CACNA1E	SELKSVQPSNHG-IYLPSDTQEHAGSGRAS>S<MPRLTV------------------------	2006
CACNA1F	ETNKATMVSQPS-AR---RG--------SG>I<SVSLPVGDRL-------PDSLSFG---P--	1695
CACNA1G	WGLPKA--------------Q----SGSVL>S<VHSQP-----------ADT-----------	2089
CACNA1H	ASVRT--------------RK----HTFGQ>R<CVSSRP---AAP----GGE-----------	2089
CACNA1I	AEFFHPAVSASQ-KGPEKGTG----TGTLP>K<IALQGS---WASLRSPRVN-----------	2003
CACNA1S	FRRTGGLFGQVD-NFL--ER--------TN>S<LPPVMA---N-------QRPLQFAEIE---	1634
SCN10A	L-PDKS------------------------>-<------------------------------	1909
SCN11A	S-PLQT------------------------>-<------------------------------	1772
SCN1A	--TEKT------------------------>-<------------------------------	1973
SCN2A	--PEKT------------------------>-<------------------------------	1963
SCN3A	--PEKT------------------------>-<------------------------------	1958
SCN4A	--PSPE------------------------>-<------------------------------	1793
SCN5A	G-PPSS------------------------>-<------------------------------	1965
SCN7A	------------------------------>-<------------------------------
SCN8A	--REKK------------------------>-<------------------------------	1935
SCN9A	--PEKT------------------------>-<------------------------------	1935
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1717T	c.5149G>A	Putative Benign		rs200865354	SIFT: tolerated Polyphen: benign
p.A1717V	c.5150C>T	Putative Benign		rs201492706	SIFT: tolerated Polyphen: benign
p.A1717G	c.5150C>G	Benign		rs201492706	SIFT: deleterious Polyphen: benign