Paralogue Annotation for CACNA1C residue 1097

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1097
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1097

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1414YMyoclonic epilepsy of infancyMedium9 17561957
SCN1AN1414DGeneralized epilepsy with febrile seizures plus ?Medium9 21248271

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.



CACNA1CKGNYITYKDGEVDHP-IIQ--PRSWENSKF>D<FDNVLAAMMALFTVSTFEGWPELLYRSIDS1127
CACNA1ARGKYLLYEKNEVK----AR--DREWKKYEF>H<YDNVLWALLTLFTVSTGEGWPQVLKHSVDA1472
CACNA1BRGQYLDYEKEEVE----AQ--PRQWKKYDF>H<YDNVLWALLTLFTVSTGEGWPMVLKHSVDA1378
CACNA1DRGLFILYKDGDVDSP-VVR--ERIWQNSDF>N<FDNVLSAMMALFTVSTFEGWPALLYKAIDS1133
CACNA1EIGNYVDHEKNKME----VK--GREWKRHEF>H<YDNIIWALLTLFTVSTGEGWPQVLQHSVDV1384
CACNA1FKGSFLVYPDGDVSRP-LVR--ERLWVNSDF>N<FDNVLSAMMALFTVSTFEGWPALLYKAIDA1098
CACNA1G--TRNITNKSDCA----EA--SYRWVRHKY>N<FDNLGQALMSLFVLASKDGWVDIMYDGLDA1498
CACNA1H--TRNISTKAQCR----AA--HYRWVRRKY>N<FDNLGQALMSLFVLSSKDGWVNIMYDGLDA1516
CACNA1I--TRNITNRSDCM----AA--NYRWVHHKY>N<FDNLGQALMSLFVLASKDGWVNIMYNGLDA1392
CACNA1SRGYYYVYKDGDPMQI-ELR--HREWVHSDF>H<FDNVLSAMMSLFTVSTFEGWPQLLYKAIDS1026
SCN10AVPLSIVNNKSDCKIQNSTGS--FFWVNVKV>N<FDNVAMGYLALLQVATFKGWMDIMYAAVDS1379
SCN11A-NYTIITNKSQCESGN------FSWINQKV>N<FDNVGNAYLALLQVATFKGWMDIIYAAVDS1269
SCN1AFDIEDVNNHTDCLKLIERNET-ARWKNVKV>N<FDNVGFGYLSLLQVATFKGWMDIMYAAVDS1444
SCN2AFDVSVVNNYSECKALIESNQT-ARWKNVKV>N<FDNVGLGYLSLLQVATFKGWMDIMYAAVDS1434
SCN3AFDISDVNNLSDCQALGK--Q--ARWKNVKV>N<FDNVGAGYLALLQVATFKGWMDIMYAAVDS1429
SCN4AFDISEVNNKSECESLMHTGQ--VRWLNVKV>N<YDNVGLGYLSLLQVATFKGWMDIMYAAVDS1256
SCN5ALNYTIVNNKSQCESLNLTGE--LYWTKVKV>N<FDNVGAGYLALLQVATFKGWMDIMYAAVDS1431
SCN7AFPSSEVMNKSRCESLLFNES--MLWENAKM>N<FDNVGNGFLSLLQVATFNGWITIMNSAIDS1154
SCN8AFEIEDVNNKTECEKLMEGNNTEIRWKNVKI>N<FDNVGAGYLALLQVATFKGWMDIMYAAVDS1425
SCN9AFPASQVPNRSECFALMNVSQN-VRWKNLKV>N<FDNVGLGYLSLLQVATFKGWTIIMYAAVDS1407
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1097 for CACNA1C.