Paralogue Annotation for RYR1 residue 3540

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3540
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3540

No paralogue variants have been mapped to residue 3540 for RYR1.

RYR1	IVATLKKMLPIGLNMCAPTDQDLITLAKTR>Y<ALKDTDEEVREFLHNNLHLQGKVEGSPSLR	3570
RYR2	IVAALKRLLPIGLNICAPGDQELIALAKNR>F<SLKDTEDEVRDIIRSNIHLQGKLE-DPAIR	3525
RYR3	IVAALKKMLPIGLNMCTPGDQELISLAKSR>Y<SHRDTDEEVREHLRNNLHLQEKSD-DPAVK	3426
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y3540F	c.10619A>T	Putative Benign			SIFT: Polyphen: