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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07911: Variant p.Cys317Tyr

Uromodulin
Gene: UMOD
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Variant information Variant position: help 317 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 Tyrosine (Y) at position 317 (C317Y, p.Cys317Tyr). 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 (Y) 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; phenotype overlapping with medullary cystic kidney disease; 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.


Sequence information Variant position: help 317 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 CEECSIDEDCKSNNGRWHCQ C KQDFNITDISLLEHRLECGA 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                         CEECSIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGA

                              CEECSVEEDCKSHDGMWSCQCKQDFNVTDLFLLD-RLECRP

Mouse                         CEECRVDEDCISDNGRWRCQCKQDSNITDVSQLEYRLECGA

Rat                           CEECGVDEDCVSDNGRWRCQCKQDFNVTDVSLLEHRLECEA

Bovine                        CEECRVDEDCKSDNGEWHCQCKQDFNVTDLSLLERRLECGV
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
Domain 292 – 323 EGF-like 4
Glycosylation 322 – 322 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 317 – 347
Mutagenesis 333 – 333 L -> K. Abolishes polymerization and filament formation of the secreted form.
Beta strand 313 – 317



Literature citations
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Rampoldi L.; Caridi G.; Santon D.; Boaretto F.; Bernascone I.; Lamorte G.; Tardanico R.; Dagnino M.; Colussi G.; Scolari F.; Ghiggeri G.M.; Amoroso A.; Casari G.;
Hum. Mol. Genet. 12:3369-3384(2003)
Cited for: INVOLVEMENT IN ADTKD1; VARIANTS ADTKD1 TRP-148; SER-150; ARG-315 AND TYR-317; CHARACTERIZATION OF VARIANTS ADTKD1 TRP-148; SER-150; ARG-315 AND TYR-317;
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.