Paralogue Annotation for CACNA1C residue 193

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 193
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 193

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D188V	Generalized epilepsy with febrile seizures plus	Medium	9	11254444, 12576172, 22780858

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.

CACNA1C	YLFLI-IFTVEAFLKVIAYGLLFHPNAYLR>N<GWNLLDFIIVVVGLFSAILEQATKA-DGAN	222
CACNA1A	PYFIG-IFCFEAGIKIIALGFAFHKGSYLR>N<GWNVMDFVVVLTGILATVGTEF--------	189
CACNA1B	PYFIG-IFCFEAGIKIIALGFVFHKGSYLR>N<GWNVMDFVVVLTGILATAGTDF--------	186
CACNA1D	YAFLI-IFTVETFLKIIAYGLLLHPNAYVR>N<GWNLLDFVIVIVGLFSVILEQLTKETEGGN	225
CACNA1E	PYFIG-IFCFEAGIKIVALGFIFHKGSYLR>N<GWNVMDFIVVLSGILATAGTHFN-------	181
CACNA1F	YVFLV-IFTVETVLKIVAYGLVLHPSAYIR>N<GWNLLDFIIVVVGLFSVLLEQGPGRPGDAP	191
CACNA1G	DDFIFAFFAVEMVVKMVALGI-FGKKCYLG>D<TWNRLDFFIVIAGMLEYSLDLQ--------	172
CACNA1H	DAFIFAFFAVEMVIKMVALGL-FGQKCYLG>D<TWNRLDFFIVVAGMMEYSLDGH--------	191
CACNA1I	DDFIFIFFAMEMVLKMVALGI-FGKKCYLG>D<TWNRLDFFIVMAGMVEYSLDLQ--------	170
CACNA1S	YFFLI-VFSIEAAMKIIAYGFLFHQDAYLR>S<GWNVLDFTIVFLGVFTVILEQVNVIQSHTA	150
SCN10A	YVFTV-IYTFEALIKILARGFCLNEFTYLR>D<PWNWLDFSVITLAYVGTAIDLR--------	209
SCN11A	CVFTG-IYIFEALIKILARGFILDEFSFLR>D<PWNWLDSIVIGIAIVSYIPGIT--------	215
SCN1A	YTFTG-IYTFESLIKIIARGFCLEDFTFLR>D<PWNWLDFTVITFAYVTEFVDLG--------	210
SCN2A	YTFTG-IYTFESLIKILARGFCLEDFTFLR>D<PWNWLDFTVITFAYVTEFVDLG--------	211
SCN3A	YTFTG-IYTFESLIKILARGFCLEDFTFLR>D<PWNWLDFSVIVMAYVTEFVDLG--------	210
SCN4A	YTFTG-IYTFESLIKILARGFCVDDFTFLR>D<PWNWLDFSVIMMAYLTEFVDLG--------	213
SCN5A	YTFTA-IYTFESLVKILARGFCLHAFTFLR>D<PWNWLDFSVIIMAYVSENIKLG--------	213
SCN7A	NTLLG-IYTFEILVKLFARGVWAGSFSFLG>D<PWNWLDFSVTVFEVIIRYSPLD--------	200
SCN8A	YTFTG-IYTFESLVKIIARGFCIDGFTFLR>D<PWNWLDFSVIMMAYITEFVNLG--------	214
SCN9A	YTFTG-IYTFESLVKILARGFCVGEFTFLR>D<PWNWLDFVVIVFAYLTEFVNLG--------	208
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 193 for CACNA1C.