Paralogue Annotation for CACNA1C residue 1939

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1939
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1939

No paralogue variants have been mapped to residue 1939 for CACNA1C.

CACNA1C	------KTVLPLHLVHHQALAVAGLSP--L>L<------------QRSHSPASFPRPFATPPA	1957
CACNA1A	------K-----------HRQHH------->-<------HHHHHHHHPPPPDKDRYAQ-ERPD	2235
CACNA1B	GGREPPKPK--PSLSSHPTSPTAGQEPGPH>P<QGSGSVNGSPLLSTSGASTPGRGGRRQLPQ	2193
CACNA1D	------RTALPLHLMQQQIMAVAGLDS--S>K<------------AQKYSPSHSTRSWATPPA	2006
CACNA1E	GTQADW-ES--PE-RRQSRSPSEGRSQTPN>R<QGTGSLSESSIPSVSDTSTP-RRSRRQLPP	2161
CACNA1F	-----------------------------H>R<------------GRNSGPNRAQGSWATPPQ	1843
CACNA1G	--------------------L--------->-<-----------------------SWISGDL	2228
CACNA1H	------------------------------>-<------------------------------
CACNA1I	------------------------------>-<------------------------------
CACNA1S	-------------------LLTQRAMP--R>G<------------QAPPAPCQCP--------	1744
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.L1939V	c.5815C>G	Putative Benign			SIFT: Polyphen: