UniProtKB/Swiss-Prot Q9UGM3: Variant p.Ser54Leu

Scavenger receptor cysteine-rich domain-containing protein DMBT1
Gene: DMBT1
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Variant information Variant position:

54 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 Serine (S) to Leucine (L) at position 54 (S54L, p.Ser54Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

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:

Links to websites of interest for the variant.

Variant rs3013236 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

2413 The length of the canonical sequence.
Location on the sequence:

IPSEVPLDPTVAEGSPFPSE S TLESTVAEGSPISLESTLES 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                         IPSEVPLDPTVAEGSPFPSESTLESTVAEGSPISLESTLES

Mouse                         SQTAVPTDGT-------------------------------

Rat                           -----------------------------------------

Pig                           VSSTTQTEST-------------------------------

Rabbit                        SSPGAPVETTTTEVFP-------------------------

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 – 2413	Scavenger receptor cysteine-rich domain-containing protein DMBT1

Literature citations
Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D.
Holmskov U.; Mollenhauer J.; Madsen J.; Vitved L.; Gronlund J.; Tornoe I.; Kliem A.; Reid K.B.M.; Poustka A.; Skjodt K.;
Proc. Natl. Acad. Sci. U.S.A. 96:10794-10799(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION IN MUCOSAL AND CELLULAR IMMUNE DEFENSE; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; DEVELOPMENTAL STAGE; VARIANTS THR-42; LEU-54; ALA-60; MET-649; MET-780 AND SER-856; The genomic structure of the DMBT1 gene: evidence for a region with susceptibility to genomic instability.
Mollenhauer J.; Holmskov U.; Wiemann S.; Krebs I.; Herbertz S.; Madsen J.; Kioschis P.; Coy J.F.; Poustka A.;
Oncogene 18:6233-6240(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3); ALTERNATIVE SPLICING; VARIANTS THR-42; LEU-54; ALA-60; LEU-337 AND SER-856; Expression of the DMBT1 gene is frequently suppressed in human lung cancer.
Takeshita H.; Sato M.; Shiwaku H.O.; Semba S.; Sakurada A.; Hoshi M.; Hayashi Y.; Tagawa Y.; Ayabe H.; Horii A.;
Jpn. J. Cancer Res. 90:903-908(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INVOLVEMENT IN LUNG CARCINOGENESIS; VARIANTS THR-42; LEU-54 AND SER-856; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8); VARIANT LEU-54; 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.