Paralogue Annotation for RYR1 residue 2172

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2172
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2172

No paralogue variants have been mapped to residue 2172 for RYR1.

RYR1	YTISPSSVEDTMSLLECLGQIRSLLIVQMG>P<QEENLMIQSIGNIMNNKVFYQHPNLMRALG	2202
RYR2	YTINGVSVEDTINLLASLGQIRSLLSVRMG>K<EEEKLMIRGLGDIMNNKVFYQHPNLMRALG	2166
RYR3	YTISHTSVSDTINLLAALGQIRSLLSVRMG>K<EEELLMINGLGDIMNNKVFYQHPNLMRVLG	2064
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2172L	c.6515C>T	Putative Benign		rs376564417	SIFT: tolerated Polyphen: benign
p.P2172H	c.6515C>A	Putative Benign			SIFT: Polyphen: