Paralogue Annotation for CACNA1C residue 1613

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1613
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1613

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	E1901Q	Long QT syndrome	Medium	5	19716085
SCN3A	E1900G	Autism spectrum disorder	Medium	5	24467814

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	LRAIIKKIW-KRT-SMKLLDQVVPPAGDDE>V<TVGKFYATFLIQEYF-RKFKKRKE--QGLV	1640
CACNA1A	LRKEMMAIW-PNL-SQKTLDLLVTPHKSTD>L<TVGKIYAAMMIMEYY-RQSKAKK--LQAMR	1978
CACNA1B	LRKEISVVW-ANL-PQKTLDLLVPPHKPDE>M<TVGKVYAALMIFDFY-KQNKTTRDQMQQAP	1879
CACNA1D	LRAVIKKIW-KKT-SMKLLDQVVPPAGDDE>V<TVGKFYATFLIQDYF-RKFKKRKE--QGLV	1648
CACNA1E	LQKETLAIW-PHL-SQKMLDLLVPMPKASD>L<TVGKIYAAMMIMDYY-KQSKVKKQ--RQQL	1890
CACNA1F	LRIVIKKIW-KRM-KQKLLDEVIPPPDEEE>V<TVGKFYATFLIQDYF-RKFRRRKE--KGLL	1605
CACNA1G	WELKLMDEL-AGPGGQPSAFPSAPSLGGSD>P<-----QIPLAEMEAL-SLTSEIVS--EPSC	1996
CACNA1H	VSRML-SLPNDSYM----FRPVVPASAPHP>R<-----PLQEVEMETYGAGTPLGSV--ASVH	1969
CACNA1I	GELTIIDNL-SGSI----FHHYSSPAGCKK>C<HHDKQEVQLAETEAF-SLNSDRSS--SILL	1868
CACNA1S	LRAIIKKIW-KRT-SMKLLDQVIPPIGDDE>V<TVGKFYATFLIQEHF-RKFMKRQE--EYY-	1544
SCN10A	MEEKFMA---TNL-SKSSYEPIATTLRWKQ>E<DIS----ATVIQKAY-RSYVLHRS--MALS	1874
SCN11A	MEEKFME---ANP-LKKLYEPIVTTTKRKE>E<ERG----AAIIQKAF-RKYMMKVT--KGDQ	1756
SCN1A	MEERFMA---SNP-SKVSYQPITTTLKRKQ>E<EVS----AVIIQRAY-RRHLLKRT--VKQA	1938
SCN2A	MEERFMA---SNP-SKVSYEPITTTLKRKQ>E<EVS----AIIIQRAY-RRYLLKQK--VKKV	1928
SCN3A	MEDRFMA---SNP-SKVSYEPITTTLKRKQ>E<EVS----AAIIQRNF-RCYLLKQR--LKNI	1923
SCN4A	MEEKFMA---ANP-SKVSYEPITTTLKRKH>E<EVC----AIKIQRAY-RRHLLQRS--MKQA	1750
SCN5A	MEEKFMA---ANP-SKISYEPITTTLRRKH>E<EVS----AMVIQRAF-RRHLLQRS--LKHA	1924
SCN7A	IESGFLL---ANP-FKITCEPITTTLKRKQ>E<AVS----ATIIQRAY-KNYRLRRN--DKNT	1648
SCN8A	MEERFVA---SNP-SKVSYEPITTTLRRKQ>E<EVS----AVVLQRAY-RGHLARRG--FIC-	1917
SCN9A	MEERFMS---ANP-SKVSYEPITTTLKRKQ>E<DVS----ATVIQRAY-RRYRLRQN--VKNI	1901
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1613I	c.4837G>A	Putative Benign			SIFT: Polyphen: