Paralogue Annotation for RYR1 residue 3410

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3410
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3410

No paralogue variants have been mapped to residue 3410 for RYR1.

RYR1	RLEAKAEAQEGELLVRDEFSVLCRDLYALY>P<LLIRYVDNNRAQWLTEPNPSAEELFRMVGE	3440
RYR2	KAEARGDMSEAELLILDEFTTLARDLYAFY>P<LLIRFVDYNRAKWLKEPNPEAEELFRMVAE	3401
RYR3	KADGKGDTQEAELLILDEFAVLCRDLYAFY>P<MLIRYVDNNRSNWLKSPDADSDQLFRMVAE	3297
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3410Q	c.10229C>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998
p.P3410L	c.10229C>T	Putative Benign			SIFT: Polyphen: