Paralogue Annotation for CACNA1C residue 2039

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2039
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2039

No paralogue variants have been mapped to residue 2039 for CACNA1C.

CACNA1C	RPVSLMVPSQA---GAPGRQFHGSASSLVE>A<-----VL--ISEG----LGQFAQD------	2052
CACNA1A	------------------------------>-<------------------------------
CACNA1B	GAQTSLPAFSP---GRLSRGLSEHNA---->-<LLQRDPL--SQPL----APGSRIG------	2256
CACNA1D	TPASLTVPSSF---RNKNSDKQRSADSLVE>A<-----VL--ISEG----LGRYARD------	2097
CACNA1E	PPADGSEEGSP---LT-SQALESNNACLTE>S<SNSPHPQ--QSQH----ASPQRYI------	2228
CACNA1F	T--CLHVPGTH---SDPSHGKRGSADSLVE>A<-----VL--ISEG----LGLFARD------	1914
CACNA1G	LGTDPSNLGG---QPLGGPGSRPKKKLSPP>S<-----IT--IDPP----ESQGPRT------	2323
CACNA1H	--GEAKAWGP---EAEPALGARRKKKMSPP>C<-----I--SVEPPAEDEGSARPSAAEGGST	2214
CACNA1I	DSMDPSDEEGRGGAGGGGAGSEHSETLSSL>S<-----LTSLFCPP----PP-----------	2141
CACNA1S	-----HSRSTR---ENTSRCSAPATALLIQ>K<-----AL--VRGG----LGTLAAD------	1803
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.A2039G	c.6116C>G	Putative Benign			SIFT: Polyphen: