UniProtKB/SwissProt variant VAR

Variant information

Variant position:

928

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Unclassified

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Proline (P) to Histidine (H) at position 928 (P928H, p.Pro928His).

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 medium size and hydrophobic (P) to medium size and polar (H)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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 a colorectal cancer sample; somatic mutation; no effect Wnt signlaing upon RSPO1-binding.

Any additional useful information about the variant.

Sequence information

Variant position:

928

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

967

The length of the canonical sequence.

Location on the sequence:

GAPRLEGSHCVEPEGNHFGN P QPSMDGELLLRAEGSTPAGG

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                         GAPRLEGSHCVEPEGNHFGNPQPSM--DGELLLRAEGSTPAGG

Mouse                         GATRLEGNHFVESDGTKFGNPQPPM--KGELLLKAEGATLA

Zebrafish                     MKPSTDR----ENTGENLIRSAPGLIAKEQEHIRSSGVDTQ

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 – 967	Leucine-rich repeat-containing G-protein coupled receptor 6
Topological domain	831 – 967	Cytoplasmic

Literature citations

LGR6 is a high affinity receptor of R-spondins and potentially functions as a tumor suppressor.
Gong X.; Carmon K.S.; Lin Q.; Thomas A.; Yi J.; Liu Q.;
PLoS ONE 7:E37137-E37137(2012)
Cited for: FUNCTION; INTERACTION WITH RSPO1; RSPO2 AND RSPO3; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS CYS-725 AND HIS-928;

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-725 AND HIS-928;

UniProtKB/Swiss-Prot Q9HBX8: Variant p.Pro928His