Paralogue Annotation for RYR1 residue 544

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 544
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 544

No paralogue variants have been mapped to residue 544 for RYR1.

RYR1	WKEIVNLLYELLASLIRGNRSNCALFSTNL>D<WLVSKLDRLEASSGILEVLYCVLIESPEVL	574
RYR2	WKSILNSLYELLAALIRGNRKNCAQFSGSL>D<WLISRLERLEASSGILEVLHCVLVESPEAL	586
RYR3	WKEILNLLYKLLAALIRGNRNNCAQFSNNL>D<WLISKLDRLESSSGILEVLHCILTESPEAL	573
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D544Y	c.1630G>T	Other Myopathy		rs113812662	SIFT: Polyphen:
Reports		Other Myopathy		Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329