Paralogue Annotation for RYR1 residue 1073

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1073
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1073

No paralogue variants have been mapped to residue 1073 for RYR1.

RYR1	LLGYGYNIEPPDQEP-SQVEN-QSRCDRVR>I<FRAEKSYTVQSGRWYFEFEAVTTGEMRVGW	1103
RYR2	LLGYGYNLEAPDQDHAARAEVCSGTGERFR>I<FRAEKTYAVKAGRWYFEFETVTAGDMRVGW	1117
RYR3	FVGYGYNIEPSDQEL-ADSAVEKVSIDKIR>F<FRVERSYAVRSGKWYFEFEVVTGGDMRVGW	1103
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1073F	c.3217A>T	Putative Benign			SIFT: Polyphen:
p.I1073V	c.3217A>G	Putative Benign			SIFT: Polyphen:
p.I1073T	c.3218T>C	Putative Benign			SIFT: Polyphen: