Paralogue Annotation for CACNA1C residue 251

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 251
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 251

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I228M	Dravet syndrome ?	Medium	9	19763161, 21698661, 22136189, 23280954, 26264438, 25993546, 25993546

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	ANALGGKGAGFDVKALRAFRVLRPLRLVSG>V<PSLQVVLNSIIKAMVPLLHIALLVLFVIII	281
CACNA1A	-----------DLRTLRAVRVLRPLKLVSG>I<PSLQVVLKSIMKAMIPLLQIGLLLFFAILI	239
CACNA1B	-----------DLRTLRAVRVLRPLKLVSG>I<PSLQVVLKSIMKAMVPLLQIGLLLFFAILM	236
CACNA1D	GNHSSGKSGGFDVKALRAFRVLRPLRLVSG>V<PSLQVVLNSIIKAMVPLLHIALLVLFVIII	284
CACNA1E	--------THVDLRTLRAVRVLRPLKLVSG>I<PSLQIVLKSIMKAMVPLLQIGLLLFFAILM	234
CACNA1F	APHTGGKPGGFDVKALRAFRVLRPLRLVSG>V<PSLHIVLNSIMKALVPLLHIALLVLFVIII	250
CACNA1G	---------NVSFSAVRTVRVLRPLRAINR>V<PSMRILVTLLLDTLPMLGNVLLLCFFVFFI	224
CACNA1H	---------NVSLSAIRTVRVLRPLRAINR>V<PSMRILVTLLLDTLPMLGNVLLLCFFVFFI	243
CACNA1I	---------NINLSAIRTVRVLRPLKAINR>V<PSMRILVNLLLDTLPMLGNVLLLCFFVFFI	222
CACNA1S	TAPMSSKGAGLDVKALRAFRVLRPLRLVSG>V<PSLQVVLNSIFKAMLPLFHIALLVLFMVII	209
SCN10A	-----------GISGLRTFRVLRALKTVSV>I<PGLKVIVGALIHSVKKLADVTILTIFCLSV	259
SCN11A	----------IKLLPLRTFRVFRALKAISV>V<SRLKVIVGALLRSVKKLVNVIILTFFCLSI	266
SCN1A	-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV	260
SCN2A	-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV	261
SCN3A	-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV	260
SCN4A	-----------NISALRTFRVLRALKTITV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV	263
SCN5A	-----------NLSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLADVMVLTVFCLSV	263
SCN7A	-----------FIPTLQTARTLRILKIIPL>N<QGLKSLVGVLIHCLKQLIGVIILTLFFLSI	250
SCN8A	-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV	264
SCN9A	-----------NVSALRTFRVLRALKTISV>I<PGLKTIVGALIQSVKKLSDVMILTVFCLSV	258
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V251I	c.751G>A	Putative Benign			SIFT: tolerated Polyphen: benign