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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UGM3: Variant p.Pro357Ser

Deleted in malignant brain tumors 1 protein
Gene: DMBT1
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Variant information Variant position: help 357 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Proline (P) to Serine (S) at position 357 (P357S, p.Pro357Ser). 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: help Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Polymorphism: help The number of SRCR and SRCR-interspersed domains is polymorphic in a variety of tumors and may represent the major site of alterations in cancer. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 357 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2413 The length of the canonical sequence.
Location on the sequence: help QSRPTPSPDTWPTSHASTAG P ESSLALRLVNGGDRCQGRVE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         QSRPTPSPDTW-PTSHASTAGPESSLALRLVNGGDRCQGRVE

Mouse                         QT-SSPTPGWWNPGGTNNDV---------------------

Rat                           QSRSS-TPDWWNHGGTINDV---------------------

Pig                           QTINSVSESDL-PGTHASS----------------------

Rabbit                        MAMTSPPPDTW-PTTVIYE----------------------

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 20 – 2413 Deleted in malignant brain tumors 1 protein
Alternative sequence 337 – 835 Missing. In isoform 2.
Alternative sequence 344 – 1360 Missing. In isoform 9.



Literature citations
The SRCR/SID region of DMBT1 defines a complex multi-allele system representing the major basis for its variability in cancer.
Mollenhauer J.; Mueller H.; Kollender G.; Lyer S.; Diedrichs L.; Helmke B.; Holmskov U.; Ligtenberg T.; Herbertz S.; Krebs I.; Madsen J.; Bikker F.; Schmitt L.; Wiemann S.; Scheurlen W.; Otto H.F.; von Deimling A.; Poustka A.;
Genes Chromosomes Cancer 35:242-255(2002)
Cited for: VARIANTS THR-42; TRP-52; LEU-54; GLU-162; ASP-322; SER-357; SER-546; PRO-1095; THR-1102; TRP-1434; SER-1732 AND MET-2255; Rare mutations of the DMBT1 gene in human astrocytic gliomas.
Mueller W.; Mollenhauer J.; Stockhammer F.; Poustka A.; von Deimling A.;
Oncogene 21:5956-5959(2002)
Cited for: VARIANTS THR-42; TRP-52; LEU-54; ALA-60; LEU-65; LEU-337; SER-357; GLY-364; MET-649; MET-780; TYR-1084; THR-1169; TRP-1176; MET-1545; SER-1732 AND PRO-1961;
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.