Paralogue Annotation for RYR2 residue 4750

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4750
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4750

No paralogue variants have been mapped to residue 4750 for RYR2.

RYR2	LYLAWYMTMSVLGHYNNFFFAAHLLDIAMG>F<KTLRTILSSVTHNGKQLVLTVGLLAVVVYL	4780
RYR1	LYLGWYMVMSLLGHYNNFFFAAHLLDIAMG>V<KTLRTILSSVTHNGKQLVMTVGLLAVVVYL	4851
RYR3	LYLAWYTTMSVLGHYNNFFFAAHLLDIAMG>F<KTLRTILSSVTHNGKQLVLTVGLLAVVVYL	4683
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4750V	c.14248T>G	Putative Benign			SIFT: tolerated Polyphen: probably damaging
p.F4750L	c.14248T>C	Putative Benign			SIFT: Polyphen: