Paralogue Annotation for RYR1 residue 4971

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4971
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4971

No paralogue variants have been mapped to residue 4971 for RYR1.

RYR1	FGELRDQQEQVKEDMETKCFICGIGSDYFD>T<TPHGFETHTLEEHNLANYMFFLMYLINKDE	5001
RYR2	FGELRDQQEQVKEDMETKCFICGIGNDYFD>T<VPHGFETHTLQEHNLANYLFFLMYLINKDE	4930
RYR3	FGELRDQQEQVREDMETKCFICGIGNDYFD>T<TPHGFETHTLQEHNLANYLFFLMYLINKDE	4833
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4971A	c.14911A>G	Putative Benign			SIFT: Polyphen:
p.T4971M	c.14912C>T	Putative Benign			SIFT: Polyphen: