Paralogue Annotation for CACNA1C residue 1030

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1030
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1030

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AM1338TOhtahara syndromeMedium9 23935176
SCN1AM1348IDravet syndromeMedium9 26096185

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.



CACNA1CLRVLRPLRAINRAKGLKHVVQCVFVAIRTI>G<NIVIVTTLLQFMFACIGVQLFKGKLYTCSD1060
CACNA1ALRVLRPLKTIKRLPKLKAVFDCVVNSLKNV>F<NILIVYMLFMFIFAVVAVQLFKGKFFHCTD1408
CACNA1BLRVLRPLKTIKRLPKLKAVFDCVVNSLKNV>L<NILIVYMLFMFIFAVIAVQLFKGKFFYCTD1314
CACNA1DLRVLRPLRAINRAKGLKHVVQCVFVAIRTI>G<NIMIVTTLLQFMFACIGVQLFKGKFYRCTD1066
CACNA1ELRVLRPLKTIKRLPKLKAVFDCVVTSLKNV>F<NILIVYKLFMFIFAVIAVQLFKGKFFYCTD1320
CACNA1FLRVLRPLRAINRAKGLKHVVQCVFVAIRTI>G<NIMIVTTLLQFMFACIGVQLFKGKFYTCTD1031
CACNA1GLRTLRPLRVISRAQGLKLVVETLMSSLKPI>G<NIVVICCAFFIIFGILGVQLFKGKFFVCQG1443
CACNA1HLRTLRPLRVISRAPGLKLVVETLISSLRPI>G<NIVLICCAFFIIFGILGVQLFKGKFYYCEG1461
CACNA1ILRTLRPLRVISRAPGLKLVVETLISSLKPI>G<NIVLICCAFFIIFGILGVQLFKGKFYHCLG1337
CACNA1SLRVLRPLRAINRAKGLKHVVQCMFVAISTI>G<NIVLVTTLLQFMFACIGVQLFKGKFFRCTD959
SCN10ALRALRPLRALSRFEGMRVVVDALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFWRCIN1312
SCN11ALRALRPLRALSQFEGMKVVVNALIGAIPAI>L<NVLLVCLIFWLVFCILGVYFFSGKFGKCIN1209
SCN1ALRALRPLRALSRFEGMRVVVNALLGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYHCIN1378
SCN2ALRALRPLRALSRFEGMRVVVNALLGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYHCIN1368
SCN3ALRALRPLRALSRFEGMRVVVNALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYHCVN1366
SCN4ALRALRPLRALSRFEGMRVVVNALLGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYYCIN1191
SCN5ALRALRPLRALSRFEGMRVVVNALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFGRCIN1365
SCN7AMKFLRPLRVLSQFERMKVVVRALIKTTLPT>L<NVFLVCLMIWLIFSIMGVDLFAGRFYECID1089
SCN8ALRALRPLRALSRFEGMRVVVNALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKYHYCFN1358
SCN9ALRALRPLRALSRFEGMRVVVNALIGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYECIN1341
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1030 for CACNA1C.