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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Gly3806Arg

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 3806
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 3806 (G3806R, p.Gly3806Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In MHS1.
Other resources: help


Sequence information Variant position: help 3806
Protein sequence length: help 5038
Location on the sequence: help KGETGAMVSSTLKLGISILN G GNAEVQQKMLDYLKDKKEVG
Residue conservation: help 
Human                         KGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVG

Mouse                         KGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVG

Rat                           KGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVG

Pig                           KGETGAMVSSTLKLGISILNGGNADVQQKMLDYLKDKKEVG

Rabbit                        KGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Topological domain 1 – 4559 Cytoplasmic



Literature citations
Increasing the number of diagnostic mutations in malignant hyperthermia.
Levano S.; Vukcevic M.; Singer M.; Matter A.; Treves S.; Urwyler A.; Girard T.;
Hum. Mutat. 30:590-598(2009)
Cited for: VARIANTS MHS1 ARG-13; LYS-226; LEU-367; HIS-530; TYR-544; CYS-1043; HIS-2336; LYS-2404; GLY-2730; LYS-2880; PRO-3217; LYS-3290; TRP-3772; ARG-3806; VAL-4838; ARG-4876 AND THR-4938; VARIANTS GLY-1342; GLY-1352; LEU-1787; ALA-1832; CYS-2060; VAL-2321; VAL-2550; TRP-2676; SER-2787; GLN-3583; GLU-3756 AND LEU-4501;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.