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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07911: Variant p.Cys217Arg

Uromodulin
Gene: UMOD
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Variant information Variant position: help 217 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 Arginine (R) at position 217 (C217R, p.Cys217Arg). 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 basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained 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 217 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 TDLRGWYRFVGQGGARMAET C VPVLRCNTAAPMWLNGTHPS 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                         TDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPS

                              VGLNGWYRFTGPGGVRLAETCVPVLHCNTAAPMWLNGTHPT

Mouse                         AGLHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPS

Rat                           SDMHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPS

Bovine                        VSLGGWYRFVGQAGVRLPETCVPVLHCNTAAPMWLNGTHPS
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
Alternative sequence 205 – 234 FVGQGGARMAETCVPVLRCNTAAPMWLNGT -> P. In isoform 3.



Literature citations
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
Hart T.C.; Gorry M.C.; Hart P.S.; Woodard A.S.; Shihabi Z.; Sandhu J.; Shirts B.; Xu L.; Zhu H.; Barmada M.M.; Bleyer A.J.;
J. Med. Genet. 39:882-892(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ADTKD1 CYS-103; TYR-148 AND ARG-217; Defective intracellular trafficking of uromodulin mutant isoforms.
Bernascone I.; Vavassori S.; Di Pentima A.; Santambrogio S.; Lamorte G.; Amoroso A.; Scolari F.; Ghiggeri G.M.; Casari G.; Polishchuk R.; Rampoldi L.;
Traffic 7:1567-1579(2006)
Cited for: VARIANT ADTKD1 ARG-236; CHARACTERIZATION OF VARIANTS ADTKD1 ALA-59; SER-128; TRP-148; SER-150; GLY-204; ARG-217; LYS-225; ARG-236 AND ARG-315;
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.