Paralogue Annotation for RYR1 residue 3114

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3114
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3114

No paralogue variants have been mapped to residue 3114 for RYR1.

RYR1	GPEIVKAGLRSFFESASEDIEKMVENLRLG>K<VSQARTQVKGVGQNLTYTTVALLPVLTTLF	3144
RYR2	GLESVKSALRAFLDNAAEDLEKTMENLKQG>Q<FTHTRNQPKGVTQIINYTTVALLPMLSSLF	3109
RYR3	GSELVKAGLRAFFENAAEDLEKTSENLKLG>K<FTHSRTQIKGVSQNINYTTVALLPILTSIF	3005
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3114R	c.9341A>G	Putative Benign			SIFT: Polyphen: