Paralogue Annotation for RYR1 residue 145

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 145
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 145

No paralogue variants have been mapped to residue 145 for RYR1.

RYR1	MYLSCLTTSRSMTDKLAFDVGLQEDATGEA>C<WWTMHPASKQRSEGEKVRVGDDIILVSVSS	175
RYR2	MYLCCLSTSRSSTDKLAFDVGLQEDTTGEA>C<WWTIHPASKQRSEGEKVRVGDDLILVSVSS	188
RYR3	MYLTCLTTSRSQTDKLAFDVGLREHATGEA>C<WWTIHPASKQRSEGEKVRIGDDLILVSVSS	178
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C145R	c.433T>C	Putative Benign		rs118192114	SIFT: Polyphen: probably damaging