Paralogue Annotation for CACNA1C residue 1139

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1139
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1139

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AN1443SBrugada syndromeMedium9 22984773

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.



CACNA1CFTVSTFEGWPELLYRSIDSHTEDKGPIYNY>R<VEISIFFIIYIIIIAFFMMNIFVGFVIVTF1169
CACNA1AFTVSTGEGWPQVLKHSVDATFENQGPSPGY>R<MEMSIFYVVYFVVFPFFFVNIFVALIIITF1514
CACNA1BFTVSTGEGWPMVLKHSVDATYEEQGPSPGY>R<MELSIFYVVYFVVFPFFFVNIFVALIIITF1420
CACNA1DFTVSTFEGWPALLYKAIDSNGENIGPIYNH>R<VEISIFFIIYIIIVAFFMMNIFVGFVIVTF1175
CACNA1EFTVSTGEGWPQVLQHSVDVTEEDRGPSRSN>R<MEMSIFYVVYFVVFPFFFVNIFVALIIITF1426
CACNA1FFTVSTFEGWPALLYKAIDAYAEDHGPIYNY>R<VEISVFFIVYIIIIAFFMMNIFVGFVIITF1140
CACNA1GFVLASKDGWVDIMYDGLDAVGVDQQPIMNH>N<PWMLLYFISFLLIVAFFVLNMFVGVVVENF1540
CACNA1HFVLSSKDGWVNIMYDGLDAVGVDQQPVQNH>N<PWMLLYFISFLLIVSFFVLNMFVGVVVENF1558
CACNA1IFVLASKDGWVNIMYNGLDAVAVDQQPVTNH>N<PWMLLYFISFLLIVSFFVLNMFVGVVVENF1434
CACNA1SFTVSTFEGWPQLLYKAIDSNAEDVGPIYNN>R<VEMAIFFIIYIILIAFFMMNIFVGFVIVTF1068
SCN10ALQVATFKGWMDIMYAAVDSREVNMQPKWED>N<VYMYLYFVIFIIFGGFFTLNLFVGVIIDNF1421
SCN11ALQVATFKGWMDIIYAAVDSTEKEQQPEFES>N<SLGYIYFVVFIIFGSFFTLNLFIGVIIDNF1311
SCN1ALQVATFKGWMDIMYAAVDSRNVELQPKYEE>S<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF1486
SCN2ALQVATFKGWMDIMYAAVDSRNVELQPKYED>N<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF1476
SCN3ALQVATFKGWMDIMYAAVDSRDVKLQPVYEE>N<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF1471
SCN4ALQVATFKGWMDIMYAAVDSREKEEQPQYEV>N<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF1298
SCN5ALQVATFKGWMDIMYAAVDSRGYEEQPQWEY>N<LYMYIYFVIFIIFGSFFTLNLFIGVIIDNF1473
SCN7ALQVATFNGWITIMNSAIDSVAVNIQPHFEV>N<IYMYCYFINFIIFGVFLPLSMLITVIIDNF1196
SCN8ALQVATFKGWMDIMYAAVDSRKPDEQPKYED>N<IYMYIYFVIFIIFGSFFTLNLFIGVIIDNF1467
SCN9ALQVATFKGWTIIMYAAVDSVNVDKQPKYEY>S<LYMYIYFVVFIIFGSFFTLNLFIGVIIDNF1449
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1139Hc.3416G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 88(5):910-7. doi: 10.1016/j.neuron.2015.11.009. 26637798