Paralogue Annotation for RYR1 residue 3100

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3100
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3100

No paralogue variants have been mapped to residue 3100 for RYR1.

RYR1	ILARSLDARTVMKSGPEIVKAGLRSFFESA>S<EDIEKMVENLRLGKVSQARTQVKGVGQNLT	3130
RYR2	ILGQTLDARTVMKTGLESVKSALRAFLDNA>A<EDLEKTMENLKQGQFTHTRNQPKGVTQIIN	3095
RYR3	ILAQTLDTRTVMKSGSELVKAGLRAFFENA>A<EDLEKTSENLKLGKFTHSRTQIKGVSQNIN	2991
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3100L	c.9299C>T	Putative Benign		rs148412985	SIFT: Polyphen: benign