Paralogue Annotation for RYR1 residue 226

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 226
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 226

No paralogue variants have been mapped to residue 226 for RYR1.

RYR1	LWNMNPICSR--CEEGFVTGGHVLRLFHGH>M<DECLTISPAD-SDDQRRLVYYEGGAVCTHA	255
RYR2	LWSVAPISSGSEAAQGYLIGGDVLRLLHGH>M<DECLTVPSGEHGEEQRRTVHYEGGAVSVHA	271
RYR3	LWNVHPTCSGSSIEEGYLLGGHVVRLFHGH>-<DECLTIPSTDQNDSQHRRIFYEAGGAGTRA	260
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M226K	c.677T>A	Other Myopathy		rs112596687	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.M226T	c.677T>C	Putative Benign			SIFT: Polyphen: