Variant position: 248 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 PMWLNGTHPSSDEGIVSRKA CAHWSGHCCLWDASVQVKACA
Mouse PMWLNGSHPSSSEGIVSRTA CAHWSDQCCRWSTEIQVKACP
Rat PMWLNGSHPSSREGIVSRTA CAHWSDHCCLWSTEIQVKACP
Bovine PMWLNGTHPSSDEGIVNRVA CAHWSGDCCLWDAPIQVKACA
Dog PMWLNGTHPTRDQGIVNRTA CAHWRGHCCLWDASIQVKACA
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)
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;
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.;
Cited for: VARIANTS HNFJ1 GLU-109; GLN-236 AND TRP-248; CHARACTERIZATION OF VARIANTS HNFJ1 GLU-109; GLN-236 AND TRP-248; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.