Paralogue Annotation for CACNA1C residue 1114

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1114
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1114

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1431IDravet syndromeHigh9 18930999

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.



CACNA1CIQ--PRSWENSKFDFDNVLAAMMALFTVST>F<EGWPELLYRSIDSHTEDKGPIYNYRVEISI1144
CACNA1AAR--DREWKKYEFHYDNVLWALLTLFTVST>G<EGWPQVLKHSVDATFENQGPSPGYRMEMSI1489
CACNA1BAQ--PRQWKKYDFHYDNVLWALLTLFTVST>G<EGWPMVLKHSVDATYEEQGPSPGYRMELSI1395
CACNA1DVR--ERIWQNSDFNFDNVLSAMMALFTVST>F<EGWPALLYKAIDSNGENIGPIYNHRVEISI1150
CACNA1EVK--GREWKRHEFHYDNIIWALLTLFTVST>G<EGWPQVLQHSVDVTEEDRGPSRSNRMEMSI1401
CACNA1FVR--ERLWVNSDFNFDNVLSAMMALFTVST>F<EGWPALLYKAIDAYAEDHGPIYNYRVEISV1115
CACNA1GEA--SYRWVRHKYNFDNLGQALMSLFVLAS>K<DGWVDIMYDGLDAVGVDQQPIMNHNPWMLL1515
CACNA1HAA--HYRWVRRKYNFDNLGQALMSLFVLSS>K<DGWVNIMYDGLDAVGVDQQPVQNHNPWMLL1533
CACNA1IAA--NYRWVHHKYNFDNLGQALMSLFVLAS>K<DGWVNIMYNGLDAVAVDQQPVTNHNPWMLL1409
CACNA1SLR--HREWVHSDFHFDNVLSAMMSLFTVST>F<EGWPQLLYKAIDSNAEDVGPIYNNRVEMAI1043
SCN10ATGS--FFWVNVKVNFDNVAMGYLALLQVAT>F<KGWMDIMYAAVDSREVNMQPKWEDNVYMYL1396
SCN11A-----FSWINQKVNFDNVGNAYLALLQVAT>F<KGWMDIIYAAVDSTEKEQQPEFESNSLGYI1286
SCN1ARNET-ARWKNVKVNFDNVGFGYLSLLQVAT>F<KGWMDIMYAAVDSRNVELQPKYEESLYMYL1461
SCN2ASNQT-ARWKNVKVNFDNVGLGYLSLLQVAT>F<KGWMDIMYAAVDSRNVELQPKYEDNLYMYL1451
SCN3A--Q--ARWKNVKVNFDNVGAGYLALLQVAT>F<KGWMDIMYAAVDSRDVKLQPVYEENLYMYL1446
SCN4ATGQ--VRWLNVKVNYDNVGLGYLSLLQVAT>F<KGWMDIMYAAVDSREKEEQPQYEVNLYMYL1273
SCN5ATGE--LYWTKVKVNFDNVGAGYLALLQVAT>F<KGWMDIMYAAVDSRGYEEQPQWEYNLYMYI1448
SCN7ANES--MLWENAKMNFDNVGNGFLSLLQVAT>F<NGWITIMNSAIDSVAVNIQPHFEVNIYMYC1171
SCN8AGNNTEIRWKNVKINFDNVGAGYLALLQVAT>F<KGWMDIMYAAVDSRKPDEQPKYEDNIYMYI1442
SCN9AVSQN-VRWKNLKVNFDNVGLGYLSLLQVAT>F<KGWTIIMYAAVDSVNVDKQPKYEYSLYMYI1424
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1114 for CACNA1C.