Paralogue Annotation for RYR1 residue 5005

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 5005
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 5005

No paralogue variants have been mapped to residue 5005 for RYR1.

RYR1	GFETHTLEEHNLANYMFFLMYLINKDETEH>T<GQESYVWKMYQERCWDFFPAGDCFRKQYED	5035
RYR2	GFETHTLQEHNLANYLFFLMYLINKDETEH>T<GQESYVWKMYQERCWEFFPAGDCFRKQYED	4964
RYR3	GFETHTLQEHNLANYLFFLMYLINKDETEH>T<GQESYVWKMYQERCWDFFPAGDCFRKQYED	4867
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T5005M	c.15014C>T	Putative Benign			SIFT: Polyphen: