Paralogue Annotation for RYR1 residue 4823

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4823
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4823

No paralogue variants have been mapped to residue 4823 for RYR1.

RYR1	LGWYMVMSLLGHYNNFFFAAHLLDIAMGVK>T<LRTILSSVTHNGKQLVMTVGLLAVVVYLYT	4853
RYR2	LAWYMTMSVLGHYNNFFFAAHLLDIAMGFK>T<LRTILSSVTHNGKQLVLTVGLLAVVVYLYT	4782
RYR3	LAWYTTMSVLGHYNNFFFAAHLLDIAMGFK>T<LRTILSSVTHNGKQLVLTVGLLAVVVYLYT	4685
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4823M	c.14468C>T	Other Myopathy		rs148540135	SIFT: Polyphen:
Reports		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381