Paralogue Annotation for CACNA1C residue 2022

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2022
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2022

No paralogue variants have been mapped to residue 2022 for CACNA1C.

CACNA1C	CGSWAETTPGGGGSSAARRVRPVSLMVPSQ>A<---GAPGRQFHGSASSLVEA-----VL--I	2042
CACNA1A	------------------------------>-<------------------------------
CACNA1B	--------------------GAQTSLPAFS>P<---GRLSRGLSEHNA-----LLQRDPL--S	2246
CACNA1D	RSSWYTDEP----DISYRTFTPASLTVPSS>F<---RNKNSDKQRSADSLVEA-----VL--I	2087
CACNA1E	--------------------PPADGSEEGS>P<---LT-SQALESNNACLTESSNSPHPQ--Q	2218
CACNA1F	-------------SGPLRTFT--CLHVPGT>H<---SDPSHGKRGSADSLVEA-----VL--I	1904
CACNA1G	DEQRRHSIAVSCLDSGSQPHLGTDPSNLGG>-<--QPLGGPGSRPKKKLSPPS-----IT--I	2313
CACNA1H	DEQWRPSAELGSGEP-------GEAKAWGP>-<--EAEPALGARRKKKMSPPC-----I--SV	2194
CACNA1I	RAHQRSHSSGGSTSPGCTHHDSMDPSDEEG>R<GGAGGGGAGSEHSETLSSLS-----LTSLF	2136
CACNA1S	E-----ETP----------------HSRST>R<---ENTSRCSAPATALLIQK-----AL--V	1793
SCN10A	------------------------------>-<---------------A--------------	1946
SCN11A	------------------------------>-<------------------------------
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN5A	------------------------------>-<---------------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.A2022P	c.6064G>C	Putative Benign			SIFT: Polyphen: