Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 640 The length of the canonical sequence.
Location on the sequence:
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 FVGQGGARMAETCVPVLRCN TAAPMWLNGTHPSSDEGIVSR
Mouse FTGQGGVRMAETCVPVLRCN TAAPMWLNGSHPSSSEGIVSR
Rat FTGQGGVRMAETCVPVLRCN TAAPMWLNGSHPSSREGIVSR
Bovine FVGQAGVRLPETCVPVLHCN TAAPMWLNGTHPSSDEGIVNR
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
25 – 614 Uromodulin
25 – 587 Uromodulin, secreted form
232 – 232 N-linked (GlcNAc...) (complex)
205 – 234 FVGQGGARMAETCVPVLRCNTAAPMWLNGT -> P. In isoform 3.
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 MCKD2 93-VAL--GLY-97 DELINS ALA-ALA-SER-CYS; LYS-225 AND TRP-248;
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.;
Cited for: VARIANT HNFJ1 ARG-236; CHARACTERIZATION OF VARIANTS HNFJ1 ALA-59; SER-128; TRP-148; SER-150; GLY-204; ARG-217 AND ARG-236; CHARACTERIZATION OF VARIANT MCKD2 LYS-225; CHARACTERIZATION OF VARIANT GCKDHI ARG-315;
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