Paralogue Annotation for RYR1 residue 2174

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2174
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2174

No paralogue variants have been mapped to residue 2174 for RYR1.

RYR1	ISPSSVEDTMSLLECLGQIRSLLIVQMGPQ>E<ENLMIQSIGNIMNNKVFYQHPNLMRALGMH	2204
RYR2	INGVSVEDTINLLASLGQIRSLLSVRMGKE>E<EKLMIRGLGDIMNNKVFYQHPNLMRALGMH	2168
RYR3	ISHTSVSDTINLLAALGQIRSLLSVRMGKE>E<ELLMINGLGDIMNNKVFYQHPNLMRVLGMH	2066
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2174A	c.6521A>C	Putative Benign			SIFT: Polyphen: