Paralogue Annotation for RYR1 residue 114

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 114
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 114

No paralogue variants have been mapped to residue 114 for RYR1.

RYR1	-------SSQGGGHRTLLYGHAILLRHAHS>R<MYLSCLTTSRSMTDKLAFDVGLQEDATGEA	144
RYR2	KWKFMMKTAQGGGHRTLLYGHAILLRHSYS>G<MYLCCLSTSRSSTDKLAFDVGLQEDTTGEA	157
RYR3	-------AAQGGGHRTLLYGHAVLLRHSFS>G<MYLTCLTTSRSQTDKLAFDVGLREHATGEA	147
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R114H	c.341G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.R114C	c.340C>T	Putative Benign			SIFT: Polyphen: