UniProtKB/SwissProt variant VAR

Variant information

Variant position:

598

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 Methionine (M) to Threonine (T) at position 598 (M598T, p.Met598Thr).

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 (M) to medium size and polar (T)

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 rs11858113 [ dbSNP | Ensembl ]

Sequence information

Variant position:

598

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

Protein sequence length:

2342

The length of the canonical sequence.

Location on the sequence:

SNPLSISLTDRKTELLSGEN M DLTESHTSNLGSQVPLAAYN

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                         SNPLSISLTDRKTEL--LSGE------NMDLTESHTSNLGSQVPLAAYN

Mouse                         TNTLSVSLTDKKMEF--LADE------DMDLTKSHTTKLSQ

Caenorhabditis elegans        T----IEAADKSTKYPSIADEVEDLDMDMDITEQQPCEAGN

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 – 2342	Kinetochore scaffold 1
Region	1 – 728	Interaction with BUB1 and BUB1B
Modified residue	578 – 578	Phosphoserine
Modified residue	584 – 584	Phosphoserine
Modified residue	586 – 586	Phosphothreonine

Literature citations

AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).
Hayette S.; Tigaud I.; Vanier A.; Martel S.; Corbo L.; Charrin C.; Beillard E.; Deleage G.; Magaud J.-P.; Rimokh R.;
Oncogene 19:4446-4450(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS SER-486; THR-598; GLY-936; GLU-1285 AND ALA-1473;

Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancer of smokers.
Takimoto M.; Wei G.; Dosaka-Akita H.; Mao P.; Kondo S.; Sakuragi N.; Chiba I.; Miura T.; Itoh N.; Sasao T.; Koya R.C.; Tsukamoto T.; Fujimoto S.; Kato H.; Kuzumaki N.;
Br. J. Cancer 86:1757-1762(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); TISSUE SPECIFICITY; VARIANTS THR-43; ALA-113; SER-486; THR-598 AND GLY-936;

Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).
Kuefer M.U.; Chinwalla V.; Zeleznik-Le N.J.; Behm F.G.; Naeve C.W.; Rakestraw K.M.; Mukatira S.T.; Raimondi S.C.; Morris S.W.;
Oncogene 22:1418-1424(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1; TISSUE SPECIFICITY; VARIANTS THR-598 AND GLY-936;

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Ley T.J.; Mardis E.R.; Ding L.; Fulton B.; McLellan M.D.; Chen K.; Dooling D.; Dunford-Shore B.H.; McGrath S.; Hickenbotham M.; Cook L.; Abbott R.; Larson D.E.; Koboldt D.C.; Pohl C.; Smith S.; Hawkins A.; Abbott S.; Locke D.; Hillier L.W.; Miner T.; Fulton L.; Magrini V.; Wylie T.; Glasscock J.; Conyers J.; Sander N.; Shi X.; Osborne J.R.; Minx P.; Gordon D.; Chinwalla A.; Zhao Y.; Ries R.E.; Payton J.E.; Westervelt P.; Tomasson M.H.; Watson M.; Baty J.; Ivanovich J.; Heath S.; Shannon W.D.; Nagarajan R.; Walter M.J.; Link D.C.; Graubert T.A.; DiPersio J.F.; Wilson R.K.;
Nature 456:66-72(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-598;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NG31: Variant p.Met598Thr