Paralogue Annotation for CACNA1C residue 1643

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1643
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1643

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1S	R1547W	Hypokalaemic periodic paralysis with malignant hyp	Low	2	27066551

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	YATFLIQEYF-RKFKKRKE--QGLV-GK-->P<S--------QRNALS-L-QAGLRTL-H-DI	1661
CACNA1A	YAAMMIMEYY-RQSKAKK--LQAMR-E--->E<QDRTPLMFQRMEPPS------PTQ------	1998
CACNA1B	YAALMIFDFY-KQNKTTRDQMQQAPGG--->L<S----QMGPVSLFHP------LKATLE-QT	1901
CACNA1D	YATFLIQDYF-RKFKKRKE--QGLV-GK-Y>P<A--------KNTTIA-L-QAGLRTL-H-DI	1670
CACNA1E	YAAMMIMDYY-KQSKVKKQ--RQQL-E--->E<Q-KNAPMFQRMEPSS------LPQ------	1909
CACNA1F	YATFLIQDYF-RKFRRRKE--KGLL-GN-D>A<A--------PSTSSA-L-QAGLRSL-Q-DL	1627
CACNA1G	QIPLAEMEAL-SLTSEIVS--EPSC----->-<------------SLA------LTD------	2002
CACNA1H	PLQEVEMETYGAGTPLGSV--ASVH-SP-P>A<E-SCASLQIPLAVSS------PAR------	1990
CACNA1I	EVQLAETEAF-SLNSDRSS--SILL-GD-D>L<S-LEDPTACPPGRKD------SKG------	1889
CACNA1S	YATFLIQEHF-RKFMKRQE--EYY--GY-->R<P--------KKDIVQ-I-QAGLRTI-EEEA	1566
SCN10A	--ATVIQKAY-RSYVLHRS--MALS-NTPC>V<P---------RAEEE---AASLPDEGF-VA	1896
SCN11A	--AAIIQKAF-RKYMMKVT--KGDQ-G-D->-<Q-----------------------NDL---	1762
SCN1A	--AVIIQRAY-RRHLLKRT--VKQA-SFTY>N<K---------NKIKG--GANLLIKEDM-II	1961
SCN2A	--AIIIQRAY-RRYLLKQK--VKKV-SSIY>K<K---------DKGKE--CDGTPIKEDT-LI	1951
SCN3A	--AAIIQRNF-RCYLLKQR--LKNI-SSNY>N<K---------EAIKG--RIDLPIKQDM-II	1946
SCN4A	--AIKIQRAY-RRHLLQRS--MKQA-SYMY>R<H---------SHDGS--GDDAPEKEGL-LA	1773
SCN5A	--AMVIQRAF-RRHLLQRS--LKHA-SFLF>R<Q---------QAGSGLSEEDAPEREGL-IA	1949
SCN7A	--ATIIQRAY-KNYRLRRN--DKNT-SDIH>M<I---------DGDR----DVHATKEGA-YF	1669
SCN8A	--AVVLQRAY-RGHLARRG--FIC------>-<-----------------------KKTT-SN	1923
SCN9A	--ATVIQRAY-RRYRLRQN--VKNI-SSIY>I<K---------DGDRD---DDLLNKKDM-AF	1923
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Pro1643Ser	c.4927C>T	Unknown			SIFT: Polyphen: