Paralogue Annotation for CACNA1C residue 1332

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1332
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1332

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR1239GHypokalaemic periodic paralysisHigh6 8004673, 21891927
CACNA1SR1239HHypokalaemic periodic paralysisHigh6 7847370, 19225109, 10639629, 11555352
CACNA1AR1665QSpinocerebellar ataxia 6High6 16325861
SCN5AR1626HLong QT syndromeHigh6 18752142, 22685113, 26159999
SCN5AR1626PLong QT syndromeHigh6 10961955, 17698727, 20090423
SCN1AR1639GDravet syndromeHigh6 18930999
SCN4AR1451CPeriodic paralysisHigh6 19201608
SCN2AR1629LEpileptic encephalopathy, early onsetHigh6 23935176

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1C--HTQ----CSPSMNAEENSRISITFFRLF>R<V---MRLVKLLSRGEGIRTLLWTFIKSFQA1359
CACNA1A--------------------FINLSFLRLF>R<A---ARLIKLLRQGYTIRILLWTFVQSFKA1691
CACNA1B------------------NNFINLSFLRLF>R<A---ARLIKLLRQGYTIRILLWTFVQSFKA1599
CACNA1D--SENVPVPTATPGNSEESNRISITFFRLF>R<V---MRLVKLLSRGEGIRTLLWTFIKSFQA1369
CACNA1E-----------------NTSGFNMSFLKLF>R<A---ARLIKLLRQGYTIRILLWTFVQSFKA1606
CACNA1F--HLG----E----SSEDSSRISITFFRLF>R<V---MRLVKLLSKGEGIRTLLWTFIKSFQA1326
CACNA1G-----------------ASLPINPTIIRIM>R<VLRIARVLKLLKMAVGMRALLDTVMQALPQ1742
CACNA1H-----------------AALPINPTIIRIM>R<VLRIARVLKLLKMATGMRALLDTVVQALPQ1748
CACNA1I-----------------AALPINPTIIRIM>R<VLRIARVLKLLKMATGMRALLDTVVQALPQ1618
CACNA1SSGGLYCLGGGCGNVDPDESARISSAFFRLF>R<V---MRLIKLLSRAEGVRTLLWTFIKSFQA1266
SCN10A-----------------LQSYFSPTLFRVI>R<LARIGRILRLIRAAKGIRTLLFALMMSLPA1606
SCN11A-----------------EHIPFPPTLFRIV>R<LARIGRILRLVRAARGIRTLLFALMMSLPS1496
SCN1A------------------KYFVSPTLFRVI>R<LARIGRILRLIKGAKGIRTLLFALMMSLPA1669
SCN2A------------------KYFVSPTLFRVI>R<LARIGRILRLIKGAKGIRTLLFALMMSLPA1659
SCN3A------------------KYFVSPTLFRVI>R<LARIGRILRLIKGAKGIRTLLFALMMSLPA1654
SCN4A------------------KYFVSPTLFRVI>R<LARIGRVLRLIRGAKGIRTLLFALMMSLPA1481
SCN5A------------------KYFFSPTLFRVI>R<LARIGRILRLIRGAKGIRTLLFALMMSLPA1656
SCN7A------------------SYLVPPSLVQLI>L<LSRIIHMLRLGKGPKVFHNLMLPLMLSLPA1379
SCN8A------------------KYFVSPTLFRVI>R<LARIGRILRLIKGAKGIRTLLFALMMSLPA1650
SCN9A------------------TYFVSPTLFRVI>R<LARIGRILRLVKGAKGIRTLLFALMMSLPA1632
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1332 for CACNA1C.