Paralogue Annotation for RYR2 residue 4055

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4055
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4055

No paralogue variants have been mapped to residue 4055 for RYR2.

RYR2	DLTSSDTFKEYDPDGKGVISKRDFHKAMES>H<KHYTQSETEFLLSCAETDENETLDYEEFVK	4085
RYR1	DIVGSEAFQDYVTDPRGLISKKDFQKAMDS>Q<KQFSGPEIQFLLSCSEADENEMINCEEFAN	4129
RYR3	DLTSSDTFKEYDPDGKGIISKKEFQKAMEG>Q<KQYTQSEIDFLLSCAEADENDMFNYVDFVD	3981
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4055D	c.12163C>G	Putative Benign			SIFT: Polyphen: