Paralogue Annotation for RYR1 residue 4081

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4081
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4081

No paralogue variants have been mapped to residue 4081 for RYR1.

RYR1	SSNVEMILKFFDMFLKLKDIVGSEAFQDYV>T<DPRGLISKKDFQKAMDSQKQFSGPEIQFLL	4111
RYR2	SNNVEMILKFFDMFLKLKDLTSSDTFKEYD>P<DGKGVISKRDFHKAMESHKHYTQSETEFLL	4067
RYR3	STNVEMILKFFDMFLKLKDLTSSDTFKEYD>P<DGKGIISKKEFQKAMEGQKQYTQSEIDFLL	3963
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4081M	c.12242C>T	Other Myopathy		rs373406011	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.T4081S	c.12241A>T	Putative Benign		rs193922845	SIFT: Polyphen: benign