Paralogue Annotation for RYR1 residue 3533

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3533
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3533

No paralogue variants have been mapped to residue 3533 for RYR1.

RYR1	YSVQTSLIVATLKKMLPIGLNMCAPTDQDL>I<TLAKTRYALKDTDEEVREFLHNNLHLQGKV	3563
RYR2	YSMQTSLIVAALKRLLPIGLNICAPGDQEL>I<ALAKNRFSLKDTEDEVRDIIRSNIHLQGKL	3519
RYR3	YSIQTSLIVAALKKMLPIGLNMCTPGDQEL>I<SLAKSRYSHRDTDEEVREHLRNNLHLQEKS	3420
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3533V	c.10597A>G	Putative Benign			SIFT: Polyphen:
p.I3533N	c.10598T>A	Putative Benign			SIFT: Polyphen: