Paralogue Annotation for RYR1 residue 1075

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1075
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1075

No paralogue variants have been mapped to residue 1075 for RYR1.

RYR1	GYGYNIEPPDQEP-SQVEN-QSRCDRVRIF>R<AEKSYTVQSGRWYFEFEAVTTGEMRVGWAR	1105
RYR2	GYGYNLEAPDQDHAARAEVCSGTGERFRIF>R<AEKTYAVKAGRWYFEFETVTAGDMRVGWSR	1119
RYR3	GYGYNIEPSDQEL-ADSAVEKVSIDKIRFF>R<VERSYAVRSGKWYFEFEVVTGGDMRVGWAR	1105
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1075W	c.3223C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013 8(6):e67527. doi: 10.1371/journal.pone.0067527. Pr 23826317
p.R1075Q	c.3224G>A	Putative Benign			SIFT: Polyphen: