UniProtKB/Swiss-Prot Q16828: Variant p.Val114Leu

Dual specificity protein phosphatase 6
Gene: DUSP6
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Variant information Variant position:

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

LB/B 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 Valine (V) to Leucine (L) at position 114 (V114L, p.Val114Leu). 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:

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
Other resources:

Links to websites of interest for the variant.

Variant rs2279574 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TVVLYDESSSDWNENTGGES V LGLLLKKLKDEGCRAFYLEG 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                         TVVLYDESSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEG

Mouse                         TVVLYDENSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEG

Rat                           TVVLYDENSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEG

Bovine                        TVVLYDESSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEG

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 – 381	Dual specificity protein phosphatase 6
Domain	30 – 148	Rhodanese
Helix	114 – 124

Literature citations
Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase.
Groom L.A.; Sneddon A.A.; Alessi D.R.; Dowd S.; Keyse S.M.;
EMBO J. 15:3621-3632(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; VARIANT LEU-114; Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer.
Furukawa T.; Yatsuoka T.; Youssef E.M.; Abe T.; Yokoyama T.; Fukushige S.; Soeda E.; Hoshi M.; Hayashi Y.; Sunamura M.; Kobari M.; Horii A.;
Cytogenet. Cell Genet. 82:156-159(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); VARIANT LEU-114; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT LEU-114;

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.