Paralogue Annotation for RYR2 residue 469

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 469
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 469

No paralogue variants have been mapped to residue 469 for RYR2.

RYR2	----STVDLPIESVSLSLQDLIGYFHPPDE>H<LEHEDKQNRLRALKNRQNLFQEEGMINLVL	499
RYR1	SGPPAGTALPIEGVILSLQDLIIYFEPPSE>D<LQHEEKQSKLRSLRNRQSLFQEEGMLSMVL	487
RYR3	----APITLPIEEVLQTLQDLIAYFQPPEE>E<MRHEDKQNKLRSLKNRQNLFKEEGMLALVL	486
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H469Q	c.1407T>G	Putative Benign			SIFT: Polyphen: