UniProtKB/SwissProt variant VAR

Variant information

Variant position:

119

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

Type of variant:

Disease [Disclaimer]

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 Leucine (L) at position 119 (P119L, p.Pro119Leu).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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

Involvement in disease:

Pelger-Huet anomaly (PHA) [MIM:169400]: An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. {ECO:0000269|PubMed:14617022}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In PHA.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852605 [ dbSNP | Ensembl ]

Sequence information

Variant position:

119

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

Protein sequence length:

615

The length of the canonical sequence.

Location on the sequence:

SASHQADIKEARREVEVKLT P LILKPFGNSISRYNGEPEHI

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                         SASHQADIK-----EARREV-EVKLTPLILK----PFGNSISRYNGEPE------------HI

Mouse                         SASHEGDVKEKKEKEMRREILQVKLTPLVLK----PFGNSV

Rat                           SASYQADAK---EKEMRREILQVKLTPLVLK----PFANSV

Chicken                       SHSREH------KEDKKKIIQETSLAPPK------PSENNT

Drosophila                    SLPIKAAIK---ARTPIPEVSEVS-SPIRLSTSNLPMTLTT

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	1 – 615	Delta(14)-sterol reductase LBR
Topological domain	1 – 211	Nuclear
Modified residue	99 – 99	Phosphoserine
Modified residue	118 – 118	Phosphothreonine
Modified residue	128 – 128	Phosphoserine

Literature citations

Lamin B-receptor mutations in Pelger-Huet anomaly.
Best S.; Salvati F.; Kallo J.; Garner C.; Height S.; Thein S.L.; Rees D.C.;
Br. J. Haematol. 123:542-544(2003)
Cited for: VARIANTS PHA LEU-119 AND ARG-569;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14739: Variant p.Pro119Leu