Paralogue Annotation for RYR1 residue 4050

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4050
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4050

No paralogue variants have been mapped to residue 4050 for RYR1.

RYR1	KDMVVMLLSLLEGNVVNGMIARQMVDMLVE>S<SSNVEMILKFFDMFLKLKDIVGSEAFQDYV	4080
RYR2	KDMVVMLLSMLEGNVVNGTIGKQMVDMLVE>S<SNNVEMILKFFDMFLKLKDLTSSDTFKEYD	4036
RYR3	QDMVVMLLSLLEGNVVNGTIGKQMVDTLVE>S<STNVEMILKFFDMFLKLKDLTSSDTFKEYD	3932
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4050Y	c.12149C>A	Other Myopathy		rs193922844	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943