Paralogue Annotation for RYR1 residue 253

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 253
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 253

No paralogue variants have been mapped to residue 253 for RYR1.

RYR1	GHMDECLTISPAD-SDDQRRLVYYEGGAVC>T<HARSLWRLEPLRISWSGSHLRWGQPLRVRH	283
RYR2	GHMDECLTVPSGEHGEEQRRTVHYEGGAVS>V<HARSLWRLETLRVAWSGSHIRWGQPFRLRH	299
RYR3	GH-DECLTIPSTDQNDSQHRRIFYEAGGAG>T<RARSLWRVEPLRISWSGSNIRWGQAFRLRH	288
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T253I	c.758C>T	Putative Benign			SIFT: Polyphen: