Paralogue Annotation for CACNA1C residue 547

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 547
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 547

No paralogue variants have been mapped to residue 547 for CACNA1C.

CACNA1C	CRAAVKSNVFYWLVIFLVFLNTLTIASEHY>N<QPNWLTEVQDTANKALLALFTAEMLLKMYS	577
CACNA1A	IRRMVKTQAFYWTVLSLVALNTLCVAIVHY>N<QPEWLSDFLYYAEFIFLGLFMSEMFIKMYG	540
CACNA1B	IRRMVKAQSFYWVVLCVVALNTLCVAMVHY>N<QPRRLTTTLYFAEFVFLGLFLTEMSLKMYG	536
CACNA1D	CRAAVKSVTFYWLVIVLVFLNTLTISSEHY>N<QPDWLTQIQDIANKVLLALFTCEMLVKMYS	596
CACNA1E	IRHMVKSQVFYWIVLSLVALNTACVAIVHH>N<QPQWLTHLLYYAEFLFLGLFLLEMSLKMYG	529
CACNA1F	CRRAVKSNACYWAVLLLVFLNTLTIASEHH>G<QPVWLTQIQEYANKVLLCLFTVEMLLKLYG	582
CACNA1G	FRKIVDSKYFGRGIMIAILVNTLSMGIEYH>E<QPEELTNALEISNIVFTSLFALEMLLKLLV	796
CACNA1H	LRRIVDSKYFSRGIMMAILVNTLSMGVEYH>E<QPEELTNALEISNIVFTSMFALEMLLKLLA	846
CACNA1I	LRGIVDSKYFNRGIMMAILVNTVSMGIEHH>E<QPEELTNILEICNVVFTSMFALEMILKLAA	693
CACNA1S	CHDIVKSKVFYWLVILIVALNTLSIASEHH>N<QPLWLTRLQDIANRVLLSLFTTEMLMKMYG	485
SCN10A	LFGLVTDPFAELTITLCIVVNTIFMAMEHH>G<MSPTFEAMLQIGNIVFTIFFTAEMVFKIIA	718
SCN11A	LRTVMTDPFTELAITICIIINTVFLAMEHH>K<MEASFEKMLNIGNLVFTSIFIAEMCLKIIA	630
SCN1A	VNLVVMDPFVDLAITICIVLNTLFMAMEHY>P<MTDHFNNVLTVGNLVFTGIFTAEMFLKIIA	821
SCN2A	VNLVVMDPFVDLAITICIVLNTLFMAMEHY>P<MTEQFSSVLSVGNLVFTGIFTAEMFLKIIA	812
SCN3A	VNLIVMDPFVDLAITICIVLNTLFMAMEHY>P<MTEQFSSVLTVGNLVFTGIFTAEMVLKIIA	813
SCN4A	IHLIVMDPFVDLGITICIVLNTLFMAMEHY>P<MTEHFDNVLTVGNLVFTGIFTAEMVLKLIA	631
SCN5A	VKLVVMDPFTDLTITMCIVLNTLFMALEHY>N<MTSEFEEMLQVGNLVFTGIFTAEMTFKIIA	770
SCN7A	VHRIIMAPFTDLFLIICIILNVCFLTLEHY>P<MSKQTNTLLNIGNLVFIGIFTAEMIFKIIA	558
SCN8A	VNLIVMDPFVDLAITICIVLNTLFMAMEHH>P<MTPQFEHVLAVGNLVFTGIFTAEMFLKLIA	806
SCN9A	IYFIVMDPFVDLAITICIVLNTLFMAMEHH>P<MTEEFKNVLAIGNLVFTGIFAAEMVLKLIA	786
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N547S	c.1640A>G	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ J. 2013 77(7):1799-806. 23575362