Paralogue Annotation for CACNA1C residue 1229

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1229
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1229

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AI1363TParamyotonia congenitaHigh9 15534250

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.



CACNA1CRYIPK--NQHQYKVWYVVNSTYFEYLMFVL>I<LLNTICLAMQHYGQSCLFKIAMNILNMLFT1259
CACNA1ARHMPQNKQSFQYRMWQFVVSPPFEYTIMAM>I<ALNTIVLMMKFYGASVAYENALRVFNIVFT1606
CACNA1BRYMPQNRQSFQYKTWTFVVSPPFEYFIMAM>I<ALNTVVLMMKFYDAPYEYELMLKCLNIVFT1512
CACNA1DRYIPK--NPYQYKFWYVVNSSPFEYMMFVL>I<MLNTLCLAMQHYEQSKMFNDAMDILNMVFT1265
CACNA1ERYMPQNRHTFQYRVWHFVVSPSFEYTIMAM>I<ALNTVVLMMKYYSAPCTYELALKYLNIAFT1518
CACNA1FRYIPK--NPHQYRVWATVNSAAFEYLMFLL>I<LLNTVALAMQHYEQTAPFNYAMDILNMVFT1230
CACNA1GKPYYSDYSRFRLLVHHLCTSHYLDLFITGV>I<GLNVVTMAMEHYQQPQILDEALKICNYIFT1651
CACNA1HRPYYADYSPTRRSIHSLCTSHYLDLFITFI>I<CVNVITMSMEHYNQPKSLDEALKYCNYVFT1657
CACNA1ILPYYATYCHTRLLIHSMCTSHYLDIFITFI>I<CLNVVTMSLEHYNQPTSLETALKYCNYMFT1527
CACNA1SCYIPK--NPYQYQVWYIVTSSYFEYLMFAL>I<MLNTICLGMQHYNQSEQMNHISDILNVAFT1158
SCN10AKPIPRPLNKFQGFVFDIVTRQAFDITIMVL>I<CLNMITMMVETDDQSEEKTKILGKINQFFV1516
SCN11AKPIPRPLNKCQGLVFDIVTSQIFDIIIISL>I<ILNMISMMAESYNQPKAMKSILDHLNWVFV1406
SCN1AKPIPRPGNKFQGMVFDFVTRQVFDISIMIL>I<CLNMVTMMVETDDQSEYVTTILSRINLVFI1581
SCN2AKPIPRPANKFQGMVFDFVTKQVFDISIMIL>I<CLNMVTMMVETDDQSQEMTNILYWINLVFI1571
SCN3AKPIPRPANKFQGMVFDFVTRQVFDISIMIL>I<CLNMVTMMVETDDQGKYMTLVLSRINLVFI1566
SCN4AKPIPRPQNKIQGMVYDLVTKQAFDITIMIL>I<CLNMVTMMVETDNQSQLKVDILYNINMIFI1393
SCN5AKPIPRPLNKYQGFIFDIVTKQAFDVTIMFL>I<CLNMVTMMVETDDQSPEKINILAKINLLFV1568
SCN7ARPVPRPLNKLQGFIFDVVTSQAFNVIVMVL>I<CFQAIAMMIDTDVQSLQMSIALYWINSIFV1291
SCN8AKPIPRPLNKIQGIVFDFVTQQAFDIVIMML>I<CLNMVTMMVETDTQSKQMENILYWINLVFV1562
SCN9AKPIPRPGNKIQGCIFDLVTNQAFDISIMVL>I<CLNMVTMMVEKEGQSQHMTEVLYWINVVFI1544
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1229 for CACNA1C.