Variant position: 315 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 GTCEECSIDEDCKSNNGRWH CQCKQDFNITDISLLEHRLEC
Mouse GTCEECRVDEDCISDNGRWR CQCKQDSNITDVSQLEYRLEC
Rat GTCEECGVDEDCVSDNGRWR CQCKQDFNVTDVSLLEHRLEC
Bovine GTCEECRVDEDCKSDNGEWH CQCKQDFNVTDLSLLERRLEC
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
322 – 322 N-linked (GlcNAc...) (complex) asparagine
300 – 315
333 – 333 L -> K. Abolishes polymerization and filament formation of the secreted form.
313 – 317
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 MCKD2; VARIANTS HNFJ1 TRP-148; SER-150 AND TYR-317; VARIANT GCKDHI ARG-315; CHARACTERIZATION OF VARIANTS HNFJ1 TRP-148; SER-150 AND TYR-317; CHARACTERIZATION OF VARIANT GCKDHI ARG-315;
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.