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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96LB2: Variant p.Arg131Ser

Mas-related G-protein coupled receptor member X1
Gene: MRGPRX1
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Variant information Variant position: help 131
Type of variant: help LB/B
Residue change: help From Arginine (R) to Serine (S) at position 131 (R131S, p.Arg131Ser).
Physico-chemical properties: help Change from large size and basic (R) to small size and polar (S)
BLOSUM score: help -1
Variant description: help Decrease in ligand-mediated and ligand-independent receptor activity.
Other resources: help


Sequence information Variant position: help 131
Protein sequence length: help 322
Location on the sequence: help SFLSAVSTERCLSVLWPIWY R CHRPTHLSAVVCVLLWALSL
Residue conservation: help
Human                         SFLSAVSTERCLSVLWPIWYRCHRPTHLSAVVCVLLWALSL

Mouse                         SILSAISTERCLCVLWPIWYHCHRPRNMSAIICALIWVLSF

Rat                           SILSAISTERCLSVLWPIWYHCHRPRNMSAIICVLIWVLSF

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 322 Mas-related G-protein coupled receptor member X1
Topological domain 118 – 144 Cytoplasmic
Helix 127 – 132



Literature citations
Novel probes establish mas-related G protein-coupled receptor X1 variants as receptors with loss or gain of function.
Heller D.; Doyle J.R.; Raman V.S.; Beinborn M.; Kumar K.; Kopin A.S.;
J. Pharmacol. Exp. Ther. 356:276-283(2016)
Cited for: VARIANTS VAL-36; THR-46; LEU-55; SER-131; ARG-133; ARG-137 AND LEU-273; CHARACTERIZATION OF VARIANTS VAL-36; THR-46; LEU-55; SER-131; ARG-133; ARG-137 AND LEU-273; FUNCTION;
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.