Paralogue Annotation for CACNA1C residue 1109

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1109
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1109

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1426RMyoclonic epilepsy of infancyMedium9 17054684

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.



CACNA1CDHP-IIQ--PRSWENSKFDFDNVLAAMMAL>F<TVSTFEGWPELLYRSIDSHTEDKGPIYNYR1139
CACNA1AK----AR--DREWKKYEFHYDNVLWALLTL>F<TVSTGEGWPQVLKHSVDATFENQGPSPGYR1484
CACNA1BE----AQ--PRQWKKYDFHYDNVLWALLTL>F<TVSTGEGWPMVLKHSVDATYEEQGPSPGYR1390
CACNA1DDSP-VVR--ERIWQNSDFNFDNVLSAMMAL>F<TVSTFEGWPALLYKAIDSNGENIGPIYNHR1145
CACNA1EE----VK--GREWKRHEFHYDNIIWALLTL>F<TVSTGEGWPQVLQHSVDVTEEDRGPSRSNR1396
CACNA1FSRP-LVR--ERLWVNSDFNFDNVLSAMMAL>F<TVSTFEGWPALLYKAIDAYAEDHGPIYNYR1110
CACNA1GA----EA--SYRWVRHKYNFDNLGQALMSL>F<VLASKDGWVDIMYDGLDAVGVDQQPIMNHN1510
CACNA1HR----AA--HYRWVRRKYNFDNLGQALMSL>F<VLSSKDGWVNIMYDGLDAVGVDQQPVQNHN1528
CACNA1IM----AA--NYRWVHHKYNFDNLGQALMSL>F<VLASKDGWVNIMYNGLDAVAVDQQPVTNHN1404
CACNA1SMQI-ELR--HREWVHSDFHFDNVLSAMMSL>F<TVSTFEGWPQLLYKAIDSNAEDVGPIYNNR1038
SCN10AKIQNSTGS--FFWVNVKVNFDNVAMGYLAL>L<QVATFKGWMDIMYAAVDSREVNMQPKWEDN1391
SCN11AESGN------FSWINQKVNFDNVGNAYLAL>L<QVATFKGWMDIIYAAVDSTEKEQQPEFESN1281
SCN1ALKLIERNET-ARWKNVKVNFDNVGFGYLSL>L<QVATFKGWMDIMYAAVDSRNVELQPKYEES1456
SCN2AKALIESNQT-ARWKNVKVNFDNVGLGYLSL>L<QVATFKGWMDIMYAAVDSRNVELQPKYEDN1446
SCN3AQALGK--Q--ARWKNVKVNFDNVGAGYLAL>L<QVATFKGWMDIMYAAVDSRDVKLQPVYEEN1441
SCN4AESLMHTGQ--VRWLNVKVNYDNVGLGYLSL>L<QVATFKGWMDIMYAAVDSREKEEQPQYEVN1268
SCN5AESLNLTGE--LYWTKVKVNFDNVGAGYLAL>L<QVATFKGWMDIMYAAVDSRGYEEQPQWEYN1443
SCN7AESLLFNES--MLWENAKMNFDNVGNGFLSL>L<QVATFNGWITIMNSAIDSVAVNIQPHFEVN1166
SCN8AEKLMEGNNTEIRWKNVKINFDNVGAGYLAL>L<QVATFKGWMDIMYAAVDSRKPDEQPKYEDN1437
SCN9AFALMNVSQN-VRWKNLKVNFDNVGLGYLSL>L<QVATFKGWTIIMYAAVDSVNVDKQPKYEYS1419
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1109 for CACNA1C.