Paralogue Annotation for RYR1 residue 4160

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4160
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4160

No paralogue variants have been mapped to residue 4160 for RYR1.

RYR1	RFQEPARDIGFNVAVLLTNLSEHVPHDPRL>H<NFLELAESILEYFRPYLGRIEIMGASRRIE	4190
RYR2	RFHEPAKDIGFNVAVLLTNLSEHMPNDTRL>Q<TFLELAESVLNYFQPFLGRIEIMGSAKRIE	4146
RYR3	RFHEPAKDIGFNVAVLLTNLSEHMPNDSRL>K<CLLDPAESVLNYFEPYLGRIEIMGGAKKIE	4042
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4160L	c.12479A>T	Putative Benign			SIFT: Polyphen: