Paralogue Annotation for RYR1 residue 4130

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4130
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4130

No paralogue variants have been mapped to residue 4130 for RYR1.

RYR1	KQFSGPEIQFLLSCSEADENEMINCEEFAN>R<FQEPARDIGFNVAVLLTNLSEHVPHDPRLH	4160
RYR2	KHYTQSETEFLLSCAETDENETLDYEEFVK>R<FHEPAKDIGFNVAVLLTNLSEHMPNDTRLQ	4116
RYR3	KQYTQSEIDFLLSCAEADENDMFNYVDFVD>R<FHEPAKDIGFNVAVLLTNLSEHMPNDSRLK	4012
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4130C	c.12388C>T	Putative Benign			SIFT: Polyphen:
p.R4130H	c.12389G>A	Putative Benign			SIFT: Polyphen:
p.R4130P	c.12389G>C	Putative Benign			SIFT: Polyphen: