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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07911: Variant p.Cys248Trp

Uromodulin
Gene: UMOD
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Variant information Variant position: help 248 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Cysteine (C) to Tryptophan (W) at position 248 (C248W, p.Cys248Trp). 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 polar (C) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 248 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 640 The length of the canonical sequence.
Location on the sequence: help PMWLNGTHPSSDEGIVSRKA C AHWSGHCCLWDASVQVKACA 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                         PMWLNGTHPSSDEGIVSRKACAHWSGHCCLWDASVQVKACA

                              PMWLNGTHPTRDQGIVNRTACAHWRGHCCLWDASIQVKACA

Mouse                         PMWLNGSHPSSSEGIVSRTACAHWSDQCCRWSTEIQVKACP

Rat                           PMWLNGSHPSSREGIVSRTACAHWSDHCCLWSTEIQVKACP

Bovine                        PMWLNGTHPSSDEGIVNRVACAHWSGDCCLWDAPIQVKACA
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 25 – 614 Uromodulin
Chain 25 – 587 Uromodulin, secreted form
Region 172 – 291 D10C
Glycosylation 232 – 232 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 174 – 267
Disulfide bond 195 – 282
Disulfide bond 217 – 255
Disulfide bond 223 – 287
Disulfide bond 248 – 256



Literature citations
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Wolf M.T.F.; Mucha B.E.; Attanasio M.; Zalewski I.; Karle S.M.; Neumann H.P.H.; Rahman N.; Bader B.; Baldamus C.A.; Otto E.; Witzgall R.; Fuchshuber A.; Hildebrandt F.;
Kidney Int. 64:1580-1587(2003)
Cited for: VARIANTS ADTKD1 93-VAL--GLY-97 DELINS ALA-ALA-SER-CYS; LYS-225 AND TRP-248; Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.
Liu M.; Chen Y.; Liang Y.; Liu Y.; Wang S.; Hou P.; Zhang H.; Zhao M.;
Gene 531:363-369(2013)
Cited for: VARIANTS ADTKD1 GLU-109; GLN-236 AND TRP-248; CHARACTERIZATION OF VARIANTS ADTKD1 GLU-109; GLN-236 AND TRP-248; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.