Paralogue Annotation for RYR1 residue 4980

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4980
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4980

No paralogue variants have been mapped to residue 4980 for RYR1.

RYR1	QVKEDMETKCFICGIGSDYFDTTPHGFETH>T<LEEHNLANYMFFLMYLINKDETEHTGQESY	5010
RYR2	QVKEDMETKCFICGIGNDYFDTVPHGFETH>T<LQEHNLANYLFFLMYLINKDETEHTGQESY	4939
RYR3	QVREDMETKCFICGIGNDYFDTTPHGFETH>T<LQEHNLANYLFFLMYLINKDETEHTGQESY	4842
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4980M	c.14939C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697