UniProtKB/Swiss-Prot Q9BXB1: Variant p.Gly363Cys

Leucine-rich repeat-containing G-protein coupled receptor 4
Gene: LGR4
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Variant information Variant position:

363 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glycine (G) to Cysteine (C) at position 363 (G363C, p.Gly363Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from glycine (G) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In DPSL; uncertain significance; when transfected in HEK293T cells it results in slightly reduced WNT signaling; decreased protein expression in transfected cells. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs117543292 [ dbSNP | Ensembl ]

Sequence information Variant position:

363 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

951 The length of the canonical sequence.
Location on the sequence:

KMLRTLDLSYNNIRDLPSFN G CHALEEISLQRNQIYQIKEG The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KMLRTLDLSYNNIRDLPSFNGCHALEEISLQRNQIYQIKEG

Mouse                         KMLRTLDLSYNDIRDLPSFNGCRALEEISLQRNQISLIKET

Rat                           KMLRTLDLSYNNIRDLPSFNGCRALEEISLQRNQISLIKEN

Bovine                        KRLRTLDLSYNSIKDLPSFNGCHALEEISLQRNQIHQIKED

Xenopus tropicalis            KMLRTLDLSYNEISALVGFEGCSSLEEVYLQNNQIQEVQNE

Zebrafish                     TVLRTVDLSYNDIEDLPSFQGCVRLQDINLQHNQIKQIDRG

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	25 – 951	Leucine-rich repeat-containing G-protein coupled receptor 4
Topological domain	25 – 544	Extracellular
Repeat	344 – 365	LRR 12
Disulfide bond	339 – 364

Literature citations
LGR4 deficiency results in delayed puberty through impaired Wnt/beta-catenin signaling.
Mancini A.; Howard S.R.; Marelli F.; Cabrera C.P.; Barnes M.R.; Sternberg M.J.; Leprovots M.; Hadjidemetriou I.; Monti E.; David A.; Wehkalampi K.; Oleari R.; Lettieri A.; Vezzoli V.; Vassart G.; Cariboni A.; Bonomi M.; Garcia M.I.; Guasti L.; Dunkel L.;
JCI Insight 5:0-0(2020)
Cited for: VARIANTS DPSL VAL-96; CYS-363 AND GLY-844; INVOLVEMENT IN DPSL; CHARACTERIZATION OF VARIANTS DPSL VAL-96; CYS-363 AND GLY-844;

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.