Paralogue Annotation for RYR1 residue 4972

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4972
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4972

No paralogue variants have been mapped to residue 4972 for RYR1.

RYR1	GELRDQQEQVKEDMETKCFICGIGSDYFDT>T<PHGFETHTLEEHNLANYMFFLMYLINKDET	5002
RYR2	GELRDQQEQVKEDMETKCFICGIGNDYFDT>V<PHGFETHTLQEHNLANYLFFLMYLINKDET	4931
RYR3	GELRDQQEQVREDMETKCFICGIGNDYFDT>T<PHGFETHTLQEHNLANYLFFLMYLINKDET	4834
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4972I	c.14915C>T	Putative Benign		rs199866740	SIFT: Polyphen:
p.T4972S	c.14914A>T	Putative Benign			SIFT: Polyphen: