Paralogue Annotation for RYR1 residue 532

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 532
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 532

No paralogue variants have been mapped to residue 532 for RYR1.

RYR1	FAEFAGEEAAESWKEIVNLLYELLASLIRG>N<RSNCALFSTNLDWLVSKLDRLEASSGILEV	562
RYR2	FADVAGREAGESWKSILNSLYELLAALIRG>N<RKNCAQFSGSLDWLISRLERLEASSGILEV	574
RYR3	FAGIAREESGMAWKEILNLLYKLLAALIRG>N<RNNCAQFSNNLDWLISKLDRLESSSGILEV	561
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N532D	c.1594A>G	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.N532S	c.1595A>G	Putative Benign			SIFT: Polyphen: