Paralogue Annotation for RYR1 residue 2182

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2182
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2182

No paralogue variants have been mapped to residue 2182 for RYR1.

RYR1	TMSLLECLGQIRSLLIVQMGPQEENLMIQS>I<GNIMNNKVFYQHPNLMRALGMHETVMEVMV	2212
RYR2	TINLLASLGQIRSLLSVRMGKEEEKLMIRG>L<GDIMNNKVFYQHPNLMRALGMHETVMEVMV	2176
RYR3	TINLLAALGQIRSLLSVRMGKEEELLMING>L<GDIMNNKVFYQHPNLMRVLGMHETVMEVMV	2074
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2182F	c.6544A>T	Other Myopathy		rs193922790	SIFT: Polyphen:
Reports		Other Myopathy		[Current aspects of the diagnosis of malignant hyperthermia]. Anaesthesist. 2002 51(11):904-13. 12434264