Paralogue Annotation for RYR1 residue 4882

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4882
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4882

No paralogue variants have been mapped to residue 4882 for RYR1.

RYR1	YTVVAFNFFRKFYNKSEDEDEPDMKCDDMM>T<CYLFHMYVGVRAGGGIGDEIEDPAGDEYEL	4912
RYR2	YTVVAFNFFRKFYNKSEDGDTPDMKCDDML>T<CYMFHMYVGVRAGGGIGDEIEDPAGDEYEI	4841
RYR3	YTVVAFNFFRKFYNKSEDDDEPDMKCDDMM>T<CYLFHMYVGVRAGGGIGDEIEDPAGDPYEM	4744
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4882M	c.14645C>T	Other Myopathy		rs193922884	SIFT: Polyphen:
Reports		Other Myopathy		Novel RYR1 missense mutation causes core rod myopathy. Eur J Neurol. 2008 15(4):e31-2. 18312400