Paralogue Annotation for RYR2 residue 3044

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3044
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3044

No paralogue variants have been mapped to residue 3044 for RYR2.

RYR2	LVRHRISLFGNDATSIVNCLHILGQTLDAR>T<VMKTGLESVKSALRAFLDNAAEDLEKTMEN	3074
RYR1	LVRHRVSLFGTDAPAVVNCLHILARSLDAR>T<VMKSGPEIVKAGLRSFFESASEDIEKMVEN	3109
RYR3	LVRHRISLFGSDSTTMVSCLHILAQTLDTR>T<VMKSGSELVKAGLRAFFENAAEDLEKTSEN	2970
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3044S	c.9130A>T	Putative Benign			SIFT: Polyphen:
p.Thr3044Ile	c.9131C>T	Unknown			SIFT: Polyphen: