UniProtKB/SwissProt variant VAR

Variant information

Variant position:

869

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 Glutamate (E) to Lysine (K) at position 869 (E869K, p.Glu869Lys).

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 acidic (E) to large size and basic (K)

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

BLOSUM score:

1

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.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1207947902 [ dbSNP | Ensembl ]

Sequence information

Variant position:

869

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

Protein sequence length:

4544

The length of the canonical sequence.

Location on the sequence:

VPPPQCQPGEFACANSRCIQ E RWKCDGDNDCLDNSDEAPAL

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                         VPPPQCQPGEFACANSRCIQERWKCDGDNDCLDNSDEAPAL

Mouse                         VPPPQCQPGEFACANNRCIQERWKCDGDNDCLDNSDEAPAL

Rat                           VPPPQCQPGEFACANNRCIQERWKCDGDNDCLDNSDEAPAL

Chicken                       IPPPQCQPGEFACKNNRCIQERWKCDGDNDCLDNSDEAPEL

Baker's yeast                 -----------------------------------------

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	20 – 4544	Prolow-density lipoprotein receptor-related protein 1
Chain	20 – 3943	Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Topological domain	20 – 4419	Extracellular
Domain	852 – 892	LDL-receptor class A 3
Metal binding	871 – 871	Calcium 1; via carbonyl oxygen
Metal binding	874 – 874	Calcium 1
Metal binding	876 – 876	Calcium 1; via carbonyl oxygen
Metal binding	878 – 878	Calcium 1
Metal binding	884 – 884	Calcium 1
Metal binding	885 – 885	Calcium 1
Disulfide bond	861 – 879
Alternative sequence	293 – 4544	Missing. In isoform 2.
Helix	869 – 871

Literature citations

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] LYS-869 AND HIS-3760;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q07954: Variant p.Glu869Lys