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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Arginine (R) at position 217 (C217R, p.Cys217Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
Other resources: help


Sequence information Variant position: help 217
Protein sequence length: help 640
Location on the sequence: help TDLRGWYRFVGQGGARMAET C VPVLRCNTAAPMWLNGTHPS
Residue conservation: help 
Human                         TDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPS

                              VGLNGWYRFTGPGGVRLAETCVPVLHCNTAAPMWLNGTHPT

Mouse                         AGLHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPS

Rat                           SDMHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPS

Bovine                        VSLGGWYRFVGQAGVRLPETCVPVLHCNTAAPMWLNGTHPS
Sequence annotation in neighborhood: help
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.