Paralogue Annotation for RYR1 residue 260

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 260
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 260

No paralogue variants have been mapped to residue 260 for RYR1.

RYR1	TISPAD-SDDQRRLVYYEGGAVCTHARSLW>R<LEPLRISWSGSHLRWGQPLRVRHVTTGQYL	290
RYR2	TVPSGEHGEEQRRTVHYEGGAVSVHARSLW>R<LETLRVAWSGSHIRWGQPFRLRHVTTGKYL	306
RYR3	TIPSTDQNDSQHRRIFYEAGGAGTRARSLW>R<VEPLRISWSGSNIRWGQAFRLRHLTTGHYL	295
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R260W	c.778A>T	Putative Benign			SIFT: Polyphen: