Paralogue Annotation for RYR1 residue 3872

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3872
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3872

No paralogue variants have been mapped to residue 3872 for RYR1.

RYR1	DLNAFERQNKAEGLGMVNEDGTVINRQNGE>K<VMADDEFTQDLFRFLQLLCEGHNNDFQNYL	3902
RYR2	DLNAFERQNKAEGLGMVTEEGS------GE>K<VLQDDEFTCDLFRFLQLLCEGHNSDFQNYL	3858
RYR3	DLNAFERQNKAEGLGMVTEEGTLIVRERGE>K<VLQNDEFTRDLFRFLQLLCEGHNSDFQNFL	3754
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3872T	c.11615A>C	Putative Benign			SIFT: Polyphen: