Variant position: 217 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 TDLRGWYRFVGQGGARMAET CVPVLRCNTAAPMWLNGTHPS
Mouse AGLHGWYRFTGQGGVRMAET CVPVLRCNTAAPMWLNGSHPS
Rat SDMHGWYRFTGQGGVRMAET CVPVLRCNTAAPMWLNGSHPS
Bovine VSLGGWYRFVGQAGVRLPET CVPVLHCNTAAPMWLNGTHPS
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) asparagine
205 – 234 FVGQGGARMAETCVPVLRCNTAAPMWLNGT -> P. In isoform 3.
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 HNFJ1 TYR-148 AND ARG-217; VARIANT MCKD2 CYS-103;
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;
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.