Paralogue Annotation for RYR1 residue 2168

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2168
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2168

No paralogue variants have been mapped to residue 2168 for RYR1.

RYR1	LPRAYTISPSSVEDTMSLLECLGQIRSLLI>V<QMGPQEENLMIQSIGNIMNNKVFYQHPNLM	2198
RYR2	LPKTYTINGVSVEDTINLLASLGQIRSLLS>V<RMGKEEEKLMIRGLGDIMNNKVFYQHPNLM	2162
RYR3	LRKTYTISHTSVSDTINLLAALGQIRSLLS>V<RMGKEEELLMINGLGDIMNNKVFYQHPNLM	2060
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2168M	c.6502G>A	Other Myopathy		rs118192176	SIFT: Polyphen:
Reports		Other Myopathy		Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998 62(3):599-609. 9497245
		Other Myopathy		Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat. 2001 18(4):357-8. 11668625
		Other Myopathy		Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156
		Other Myopathy		Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003 278(28):25722-30. 12732639
		Other Myopathy		RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury? Neuromuscul Disord. 2015 25(2):138-40. doi: 10.1016/j.nmd.2014.10.008. 25466363