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:
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---NGLV FLLWGSYAQK----------KGSAIDRKRHH
Mouse WEQFTDAVVSWLNQN-L---SGLV FLLWGSYAQK-------
Caenorhabditis elegans WQTFTDTVIRIISRQSE---KPIV FLLWGGFAHK-------
Slime mold WADFTDAVLKILSKQ-D---QPIV FILWGGFAQK-------
Baker's yeast WETFTKRVVQLLIQDREADGKSLV FLLWGNNAIKLVESLLG
Fission yeast WETFTSAVLQVALNRNR---KGLV ILAWGTPAAK-------
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
1 – 313 Uracil-DNA glycosylase
250 – 255
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;
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