Sequence information
Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 313 The length of the canonical sequence.
Location on the sequence:
WEQFTDAVVSWLNQNSNGLV
F LLWGSYAQKKGSAIDRKRHH
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 WEQFTDAVVSWLNQN-S---NGLVF LLWGSYAQK----------KGSAIDRKRHH
Mouse WEQFTDAVVSWLNQN-L---SGLVF LLWGSYAQK-------
Caenorhabditis elegans WQTFTDTVIRIISRQSE---KPIVF LLWGGFAHK-------
Slime mold WADFTDAVLKILSKQ-D---QPIVF ILWGGFAQK-------
Baker's yeast WETFTKRVVQLLIQDREADGKSLVF LLWGNNAIKLVESLLG
Fission yeast WETFTSAVLQVALNRNR---KGLVI LAWGTPAAK-------
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
Chain
1 – 313
Uracil-DNA glycosylase
Beta strand
250 – 255
Literature citations
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
Imai K.; Slupphaug G.; Lee W.-I.; Revy P.; Nonoyama S.; Catalan N.; Yel L.; Forveille M.; Kavli B.; Krokan H.E.; Ochs H.D.; Fischer A.; Durandy A.;
Nat. Immunol. 4:1023-1028(2003)
Cited for: VARIANT HIGM5 SER-251;
B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.
Kavli B.; Andersen S.; Otterlei M.; Liabakk N.B.; Imai K.; Fischer A.; Durandy A.; Krokan H.E.; Slupphaug G.;
J. Exp. Med. 201:2011-2021(2005)
Cited for: CHARACTERIZATION OF VARIANT HIGM5 SER-251;
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.