Paralogue Annotation for RYR1 residue 110

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 110
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 110

No paralogue variants have been mapped to residue 110 for RYR1.

RYR1	---E-------SSQGGGHRTLLYGHAILLR>H<AHSRMYLSCLTTSRSMTDKLAFDVGLQEDA	140
RYR2	VDVEKWKFMMKTAQGGGHRTLLYGHAILLR>H<SYSGMYLCCLSTSRSSTDKLAFDVGLQEDT	153
RYR3	---G-------AAQGGGHRTLLYGHAVLLR>H<SFSGMYLTCLTTSRSQTDKLAFDVGLREHA	143
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H110Y	c.328C>T	Putative Benign			SIFT: Polyphen: