Paralogue Annotation for RYR2 residue 442

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 442
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 442

No paralogue variants have been mapped to residue 442 for RYR2.

RYR2	ESRTARVIRSTVFLFNRFIRGLDALSKKAK>A<----STVDLPIESVSLSLQDLIGYFHPPDE	468
RYR1	ESQAARMIHSTNGLYNQFIKSLDSFSGKPR>G<SGPPAGTALPIEGVILSLQDLIIYFEPPSE	456
RYR3	ESQAARIIRNTTALFSQFVSGN-----NRT>A<----APITLPIEEVLQTLQDLIAYFQPPEE	455
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A442S	c.1324G>T	Putative Benign			SIFT: Polyphen: