Paralogue Annotation for CACNA1C residue 1359

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1359
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1359

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AA1481DMyotoniaHigh9 17212350
SCN9AA1632EParoxysmal extreme pain disorder / Erythermalgia, High9 18945915, 24311784
SCN1AA1669EPartial seizures of infancy, malignant migratingHigh9 21555645
SCN9AA1632TErythromelalgiaHigh9 24311784
SCN8AA1650TEpileptic encephalopathy, infantileHigh9 24888894
SCN9AA1632GErythromelalgiaHigh9 27413160

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.



CACNA1CRV---MRLVKLLSRGEGIRTLLWTFIKSFQ>A<LPYVALLIVMLFFIYAVIGMQVFGKIALND1389
CACNA1ARA---ARLIKLLRQGYTIRILLWTFVQSFK>A<LPYVCLLIAMLFFIYAIIGMQVFGNIGIDV1721
CACNA1BRA---ARLIKLLRQGYTIRILLWTFVQSFK>A<LPYVCLLIAMLFFIYAIIGMQVFGNIALDD1629
CACNA1DRV---MRLVKLLSRGEGIRTLLWTFIKSFQ>A<LPYVALLIAMLFFIYAVIGMQMFGKVAMRD1399
CACNA1ERA---ARLIKLLRQGYTIRILLWTFVQSFK>A<LPYVCLLIAMLFFIYAIIGMQVFGNIKLDE1636
CACNA1FRV---MRLVKLLSKGEGIRTLLWTFIKSFQ>A<LPYVALLIAMIFFIYAVIGMQMFGKVALQD1356
CACNA1GRVLRIARVLKLLKMAVGMRALLDTVMQALP>Q<VGNLGLLFMLLFFIFAALGVELFGDLECDE1772
CACNA1HRVLRIARVLKLLKMATGMRALLDTVVQALP>Q<VGNLGLLFMLLFFIYAALGVELFGRLECSE1778
CACNA1IRVLRIARVLKLLKMATGMRALLDTVVQALP>Q<VGNLGLLFMLLFFIYAALGVELFGKLVCND1648
CACNA1SRV---MRLIKLLSRAEGVRTLLWTFIKSFQ>A<LPYVALLIVMLFFIYAVIGMQMFGKIALVD1296
SCN10ARLARIGRILRLIRAAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYSIFGMSSFPHVRW--1634
SCN11ARLARIGRILRLVRAARGIRTLLFALMMSLP>S<LFNIGLLLFLIMFIYAILGMNWFSKVNP--1524
SCN1ARLARIGRILRLIKGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYAIFGMSNFAYVKR--1697
SCN2ARLARIGRILRLIKGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYAIFGMSNFAYVKR--1687
SCN3ARLARIGRILRLIKGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYAIFGMSNFAYVKK--1682
SCN4ARLARIGRVLRLIRGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYSIFGMSNFAYVKK--1509
SCN5ARLARIGRILRLIRGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYSIFGMANFAYVKW--1684
SCN7ALLSRIIHMLRLGKGPKVFHNLMLPLMLSLP>A<LLNIILLIFLVMFIYAVFGMYNFAYVKK--1407
SCN8ARLARIGRILRLIKGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIFSIFGMSNFAYVKH--1678
SCN9ARLARIGRILRLVKGAKGIRTLLFALMMSLP>A<LFNIGLLLFLVMFIYAIFGMSNFAYVKK--1660
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1359 for CACNA1C.