Paralogue Annotation for RYR1 residue 4185

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4185
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4185

No paralogue variants have been mapped to residue 4185 for RYR1.

RYR1	HDPRLHNFLELAESILEYFRPYLGRIEIMG>A<SRRIERIYFEISETNRAQWEMPQVKESKRQ	4215
RYR2	NDTRLQTFLELAESVLNYFQPFLGRIEIMG>S<AKRIERVYFEISESSRTQWEKPQVKESKRQ	4171
RYR3	NDSRLKCLLDPAESVLNYFEPYLGRIEIMG>G<AKKIERVYFEISESSRTQWEKPQVKESKRQ	4067
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4185T	c.12553G>A	Putative Benign		rs151119428	SIFT: Polyphen: benign
p.A4185V	c.12554C>T	Putative Benign			SIFT: Polyphen:
p.A4185E	c.12554C>A	Putative Benign			SIFT: Polyphen: