Paralogue Annotation for RYR1 residue 2210

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2210
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2210

No paralogue variants have been mapped to residue 2210 for RYR1.

RYR1	QSIGNIMNNKVFYQHPNLMRALGMHETVME>V<MVNVLGGGESKEIRFPKMVTSCCRFLCYFC	2240
RYR2	RGLGDIMNNKVFYQHPNLMRALGMHETVME>V<MVNVLGGGESKEITFPKMVANCCRFLCYFC	2204
RYR3	NGLGDIMNNKVFYQHPNLMRVLGMHETVME>V<MVNVLGT-EKSQIAFPKMVASCCRFLCYFC	2101
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2210F	c.6628G>T	Other Myopathy		rs193922792	SIFT: Polyphen:
Reports		Other Myopathy		Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology. 2005 102(3):515-21. 15731587