Paralogue Annotation for RYR1 residue 155

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 155
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 155

No paralogue variants have been mapped to residue 155 for RYR1.

RYR1	SMTDKLAFDVGLQEDATGEACWWTMHPASK>Q<RSEGEKVRVGDDIILVSVSSERYLHLSTAS	185
RYR2	SSTDKLAFDVGLQEDTTGEACWWTIHPASK>Q<RSEGEKVRVGDDLILVSVSSERYLHLSYGN	198
RYR3	SQTDKLAFDVGLREHATGEACWWTIHPASK>Q<RSEGEKVRIGDDLILVSVSSERYLHLSVSN	188
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q155K	c.463C>A	Other Myopathy		rs193922750	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943