Paralogue Annotation for CACNA1C residue 1607

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1607
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1607

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1909I	Myoclonic epilepsy of infancy	Medium	4	12083760, 17054685

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	EQANEELRAIIKKIW-KRT-SMKLLDQVVP>P<AGDDEVTVGKFYATFLIQEYF-RKFKKRKE	1636
CACNA1A	QQMDAELRKEMMAIW-PNL-SQKTLDLLVT>P<HKSTDLTVGKIYAAMMIMEYY-RQSKAKK-	1973
CACNA1B	HQCDAELRKEISVVW-ANL-PQKTLDLLVP>P<HKPDEMTVGKVYAALMIFDFY-KQNKTTRD	1873
CACNA1D	EQANEELRAVIKKIW-KKT-SMKLLDQVVP>P<AGDDEVTVGKFYATFLIQDYF-RKFKKRKE	1644
CACNA1E	QQLDSELQKETLAIW-PHL-SQKMLDLLVP>M<PKASDLTVGKIYAAMMIMDYY-KQSKVKKQ	1886
CACNA1F	EQANQELRIVIKKIW-KRM-KQKLLDEVIP>P<PDEEEVTVGKFYATFLIQDYF-RKFRRRKE	1601
CACNA1G	IQGSLEWELKLMDEL-AGPGGQPSAFPSAP>S<LGGSDP-----QIPLAEMEAL-SLTSEIVS	1992
CACNA1H	-----SVSRML-SLPNDSYM----FRPVVP>A<SAPHPR-----PLQEVEMETYGAGTPLGSV	1965
CACNA1I	-----EGELTIIDNL-SGSI----FHHYSS>P<AGCKKCHHDKQEVQLAETEAF-SLNSDRSS	1864
CACNA1S	EQANEELRAIIKKIW-KRT-SMKLLDQVIP>P<IGDDEVTVGKFYATFLIQEHF-RKFMKRQE	1541
SCN10A	DSLKANMEEKFMA---TNL-SKSSYEPIAT>T<LRWKQEDIS----ATVIQKAY-RSYVLHRS	1870
SCN11A	DSMKAMMEEKFME---ANP-LKKLYEPIVT>T<TKRKEEERG----AAIIQKAF-RKYMMKVT	1752
SCN1A	DALRIQMEERFMA---SNP-SKVSYQPITT>T<LKRKQEEVS----AVIIQRAY-RRHLLKRT	1934
SCN2A	DALRIQMEERFMA---SNP-SKVSYEPITT>T<LKRKQEEVS----AIIIQRAY-RRYLLKQK	1924
SCN3A	DALRIQMEDRFMA---SNP-SKVSYEPITT>T<LKRKQEEVS----AAIIQRNF-RCYLLKQR	1919
SCN4A	DALKQTMEEKFMA---ANP-SKVSYEPITT>T<LKRKHEEVC----AIKIQRAY-RRHLLQRS	1746
SCN5A	DALKIQMEEKFMA---ANP-SKISYEPITT>T<LRRKHEEVS----AMVIQRAF-RRHLLQRS	1920
SCN7A	EKVVSEIESGFLL---ANP-FKITCEPITT>T<LKRKQEAVS----ATIIQRAY-KNYRLRRN	1644
SCN8A	DILRQQMEERFVA---SNP-SKVSYEPITT>T<LRRKQEEVS----AVVLQRAY-RGHLARRG	1914
SCN9A	DSLRSQMEERFMS---ANP-SKVSYEPITT>T<LKRKQEDVS----ATVIQRAY-RRYRLRQN	1897
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1607S	c.4819C>T	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430