Paralogue Annotation for CACNA1C residue 289

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 289
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 289

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	L266M	Febrile seizures	High	9	23895530

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	NSIIKAMVPLLHIALLVLFVIIIYAIIGLE>L<FMGKMHKTCYNQEGIAD-------------	306
CACNA1A	KSIMKAMIPLLQIGLLLFFAILIFAIIGLE>F<YMGKFHTTCFE-E-GTD------------D	263
CACNA1B	KSIMKAMVPLLQIGLLLFFAILMFAIIGLE>F<YMGKFHKACFP-N-STD------------A	260
CACNA1D	NSIIKAMVPLLHIALLVLFVIIIYAIIGLE>L<FIGKMHKTCFF-A-DSD-------------	307
CACNA1E	KSIMKAMVPLLQIGLLLFFAILMFAIIGLE>F<YSGKLHRACFM-N-NSG------------I	258
CACNA1F	NSIMKALVPLLHIALLVLFVIIIYAIIGLE>L<FLGRMHKTCYF-L-GSD-------------	273
CACNA1G	TLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ>L<WAGLLRNRCFL-P-ENFSLPLSVD-LE-RY	258
CACNA1H	TLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ>L<WAGLLRNRCFL-D-SAFVRNNNLTFLR-PY	278
CACNA1I	NLLLDTLPMLGNVLLLCFFVFFIFGIIGVQ>L<WAGLLRNRCFL-E-ENFTIQGDVA-LP-PY	256
CACNA1S	NSIFKAMLPLFHIALLVLFMVIIYAIIGLE>L<FKGKMHKTCYF-I-GTD-------------	232
SCN10A	GALIHSVKKLADVTILTIFCLSVFALVGLQ>L<FKGNLKNKCVK-N-----------------	279
SCN11A	GALLRSVKKLVNVIILTFFCLSIFALVGQQ>L<FMGSLNLKCIS-R-----------------	286
SCN1A	GALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCIQ-WP-PTNASLEEH-SI-EK	294
SCN2A	GALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCLQ-WP-PDNSSFEIN-ITSFF	296
SCN3A	GALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCLQ-WP-PSDSAFETN-TTSYF	295
SCN4A	GALIQSVKKLSDVMILTVFCLSVFALVGLQ>L<FMGNLRQKCVR-WP-PPFN--DTN-TTWYS	296
SCN5A	GALIQSVKKLADVMVLTVFCLSVFALIGLQ>L<FMGNLRHKCVR-------------------	282
SCN7A	GVLIHCLKQLIGVIILTLFFLSIFSLIGMG>L<FMGNLKHKCFR-WP-QENE-----------	275
SCN8A	GALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCVV-WP----------------	285
SCN9A	GALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLKHKCFR-NS----------------	279
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L289I	c.865C>A	Putative Benign			SIFT: Polyphen: