Paralogue Annotation for RYR2 residue 4728

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4728
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4728

No paralogue variants have been mapped to residue 4728 for RYR2.

RYR2	LNSIDVKYQMWKLGVVFTDNSFLYLAWYMT>M<SVLGHYNNFFFAAHLLDIAMGFKTLRTILS	4758
RYR1	LMSIDVKYQIWKFGVIFTDNSFLYLGWYMV>M<SLLGHYNNFFFAAHLLDIAMGVKTLRTILS	4829
RYR3	LSSIDMKYHIWKLGVVFTDNSFLYLAWYTT>M<SVLGHYNNFFFAAHLLDIAMGFKTLRTILS	4661
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4728V	c.14182A>G	Putative Benign			SIFT: tolerated Polyphen: benign