Paralogue Annotation for CACNA1C residue 1930

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1930
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1930

No paralogue variants have been mapped to residue 1930 for CACNA1C.

CACNA1C	Q----------------KTVLPLHLVHHQA>L<AVAGLSP--LL------------QRSHSPA	1946
CACNA1A	-----------------K-----------H>R<QHH--------------HHHHHHHHPPPPD	2225
CACNA1B	EKQRFYSCDRFGGREPPKPK--PSLSSHPT>S<PTAGQEPGPHPQGSGSVNGSPLLSTSGAST	2182
CACNA1D	H----------------RTALPLHLMQQQI>M<AVAGLDS--SK------------AQKYSPS	1995
CACNA1E	SRCN--SEER-GTQADW-ES--PE-RRQSR>S<PSEGRSQTPNRQGTGSLSESSIPSVSDTST	2151
CACNA1F	------------------------------>-<---------HR------------GRNSGPN	1832
CACNA1G	------------------------------>-<L-----------------------------	2221
CACNA1H	------------------------------>-<------------------------------
CACNA1I	------------------------------>-<------------------------------
CACNA1S	------------------------------>L<LTQRAMP--RG------------QAPPAPC	1741
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.L1930F	c.5790G>C	Putative Benign			SIFT: Polyphen: