Paralogue Annotation for CACNA1C residue 2001

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2001
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 2001

No paralogue variants have been mapped to residue 2001 for CACNA1C.



CACNA1CTLRLEGVESSEKLNSSFPSIHCGSWAETTP>G<GGGSSAARRVRPVSLMVPSQA---GAPGRQ2028
CACNA1ADQRWS------------------------->-<------------------------------2247
CACNA1BSITYKTANS----S--PIHFA--------->-<----------GAQTSLPAFSP---GRLSRG2232
CACNA1DLIQVEQSEALDQVNGSLPSLHRSSWYTDEP>-<---DISYRTFTPASLTVPSSF---RNKNSD2073
CACNA1ELLSYSSLIR----H--AGSIS--------->-<----------PPADGSEEGSP---LT-SQA2199
CACNA1FLLLVEEGAAGEGYLGRS------------->-<---SGPLRTFT--CLHVPGTH---SDPSHG1890
CACNA1GDLKKCYSVEAQSCQRRPTSWLDEQRRHSIA>V<SCLDSGSQPHLGTDPSNLGG---QPLGGPG2299
CACNA1HDLRRLYSVDAQGFLDKPGR-ADEQWRPSAE>L<GSGEP-------GEAKAWGP---EAEPALG2180
CACNA1IAARRRLSLRGRGLFSLRG--LRAHQRSHSS>G<GSTSPGCTHHDSMDPSDEEGRGGAGGGGAG2120
CACNA1S--RVESSMPEDRKSSTPGSLHE-----ETP>-<---------------HSRSTR---ENTSRC1779
SCN10AS--SIQNED-------E------------->-<------------------------------1945
SCN11AG--KVHC----------------------->-<------------------------------1790
SCN1AE--GKDEKA--------------------->-<------------------------------2006
SCN2AD--KSEKED--------------------->-<------------------------------1995
SCN3AD--KPEKES--------------------->-<------------------------------1990
SCN4AA--PPPGQT--------------------->-<------------------------------1826
SCN5AD--YSHSED-------L------------->-<------------------------------2001
SCN7AS--P-------------------------->-<------------------------------1677
SCN8AG--RRERAK--------------------->-<------------------------------1970
SCN9AD--RTEKED--------------------->-<------------------------------1967
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2001Sc.6001G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.G2001Dc.6002G>A Putative BenignSIFT:
Polyphen: