Paralogue Annotation for RYR1 residue 3099

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3099
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3099

No paralogue variants have been mapped to residue 3099 for RYR1.

RYR1	HILARSLDARTVMKSGPEIVKAGLRSFFES>A<SEDIEKMVENLRLGKVSQARTQVKGVGQNL	3129
RYR2	HILGQTLDARTVMKTGLESVKSALRAFLDN>A<AEDLEKTMENLKQGQFTHTRNQPKGVTQII	3094
RYR3	HILAQTLDTRTVMKSGSELVKAGLRAFFEN>A<AEDLEKTSENLKLGKFTHSRTQIKGVSQNI	2990
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3099T	c.9295G>A	Putative Benign			SIFT: Polyphen: