Paralogue Annotation for CACNA1C residue 1839

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1839
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1839

No paralogue variants have been mapped to residue 1839 for CACNA1C.

CACNA1C	SQAAMAGQEET------------SQDETYE>V<KMNHDTEACSEPSLLSTE------MLSYQD	1863
CACNA1A	RRLDDYSLERV---------------PPEE>N<QRHHQ--R---RRDRSHRASERSLGRYTDV	2174
CACNA1B	THLCSTTPDRP---------------PPSQ>A<SSHHHHHRCHRRRDRKQRSLEKGPSLSADM	2078
CACNA1D	EQLPTICREDPEIHGYFRDPHCLGEQEYFS>S<EECYEDDSSPTWSRQNYGYYSRYPGRNIDS	1898
CACNA1E	----SSWLEEF---------------SMER>S<SENTY--K---SRRRSYHSSLRLSAHRLNS	2067
CACNA1F	QPKGTKGQNKQ------------DEDEEVP>D<RLSYLDEQAGTPP-CSVL------------	1771
CACNA1G	DLLAEVSGPSP------------PLARAYS>F<WGQSS--T---Q------------------	2176
CACNA1H	------------------------------>-<------------------------------
CACNA1I	------------------------------>-<------------------------------
CACNA1S	------------------------------>A<NVAYGNSNHSNSHVFSSVHYEREFPEETET	1696
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.V1839M	c.5515G>A	Putative Benign			SIFT: Polyphen: