Paralogue Annotation for RYR1 residue 2490

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2490
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2490

No paralogue variants have been mapped to residue 2490 for RYR1.

RYR1	LVPLEDLVGIISLPLQIPTLGKDGALVQPK>M<SASFVPDHKASMVLFLDRVYGIENQDFLLH	2520
RYR2	LIPLGDLVGVISIAFQMPTIAKDGNVVEPD>M<SAGFCPDHKAAMVLFLDRVYGIEVQDFLLH	2486
RYR3	LVPTEDLVGIISIPLKLPSLNKDGSVSEPD>M<AANFCPDHKAPMVLFLDRVYGIKDQTFLLH	2383
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2490T	c.7469T>C	Putative Benign			SIFT: Polyphen: benign