Paralogue Annotation for RYR1 residue 1127

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1127
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1127

No paralogue variants have been mapped to residue 1127 for RYR1.

RYR1	GEMRVGWARPELRPDVELGADELAYVFNGH>R<GQRWHLGSEPFGRPWQPGDVVGCMIDLTEN	1157
RYR2	GDMRVGWSRPGCQPDQELGSDERAFAFDGF>K<AQRWHQGNEHYGRSWQAGDVVGCMVDMNEH	1171
RYR3	GDMRVGWARPGCRPDVELGADDQAFVFEGN>R<GQRWHQGSGYFGRTWQPGDVVGCMINLDDA	1157
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1127H	c.3380G>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.R1127C	c.3379C>T	Putative Benign			SIFT: Polyphen: