Paralogue Annotation for RYR1 residue 3103

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3103
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3103

No paralogue variants have been mapped to residue 3103 for RYR1.

RYR1	RSLDARTVMKSGPEIVKAGLRSFFESASED>I<EKMVENLRLGKVSQARTQVKGVGQNLTYTT	3133
RYR2	QTLDARTVMKTGLESVKSALRAFLDNAAED>L<EKTMENLKQGQFTHTRNQPKGVTQIINYTT	3098
RYR3	QTLDTRTVMKSGSELVKAGLRAFFENAAED>L<EKTSENLKLGKFTHSRTQIKGVSQNINYTT	2994
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3103M	c.9309C>G	Putative Benign			SIFT: Polyphen: