Paralogue Annotation for RYR1 residue 149

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 149
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 149

No paralogue variants have been mapped to residue 149 for RYR1.

RYR1	CLTTSRSMTDKLAFDVGLQEDATGEACWWT>M<HPASKQRSEGEKVRVGDDIILVSVSSERYL	179
RYR2	CLSTSRSSTDKLAFDVGLQEDTTGEACWWT>I<HPASKQRSEGEKVRVGDDLILVSVSSERYL	192
RYR3	CLTTSRSQTDKLAFDVGLREHATGEACWWT>I<HPASKQRSEGEKVRIGDDLILVSVSSERYL	182
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M149I	c.447G>A	Putative Benign			SIFT: Polyphen:
p.M149I	c.447G>T	Putative Benign			SIFT: Polyphen: