Paralogue Annotation for RYR1 residue 2838

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2838
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2838

No paralogue variants have been mapped to residue 2838 for RYR1.

RYR1	KESLKAMIAWEWTIEKAREGEEEK--TEKK>K<TRKISQSAQTYDPREGYNPQPPDLSAVTLS	2868
RYR2	KESLKTMLAWGWRIERTREGDSMALYNRTR>R<ISQTSQV--SVDAAHGYSPRAIDMSNVTLS	2834
RYR3	RESLKTMLAVGWTVERTKEGEALVQQRENE>K<LRSVSQA--NQ--GNSYSPAPLDLSNVVLS	2729
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2838N	c.8514A>C	Putative Benign		rs140171924	SIFT: Polyphen: benign