Paralogue Annotation for RYR1 residue 3111

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3111
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3111

No paralogue variants have been mapped to residue 3111 for RYR1.

RYR1	MKSGPEIVKAGLRSFFESASEDIEKMVENL>R<LGKVSQARTQVKGVGQNLTYTTVALLPVLT	3141
RYR2	MKTGLESVKSALRAFLDNAAEDLEKTMENL>K<QGQFTHTRNQPKGVTQIINYTTVALLPMLS	3106
RYR3	MKSGSELVKAGLRAFFENAAEDLEKTSENL>K<LGKFTHSRTQIKGVSQNINYTTVALLPILT	3002
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3111Q	c.9332G>A	Putative Benign		rs201145095	SIFT: Polyphen: benign