Sequence information
Variant position: 72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 546 The length of the canonical sequence.
Location on the sequence:
DGMIAECPGAPAGLARQPEE
V VLQASVSSYHLFRDVAEVTA
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 DGMIAECPGAPAGLARQPEEV VLQASVSSYHLFRDVAEVTA
Mouse DG-----------LAKQKREE LLQASVSPYHLFSDVADVTA
Rat DG-----------LAKQKREE LLKTPVSPYHLFSDIADVTA
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 – 546
Adenine DNA glycosylase
Literature citations
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
Goto M.; Shinmura K.; Nakabeppu Y.; Tao H.; Yamada H.; Tsuneyoshi T.; Sugimura H.;
Hum. Mutat. 31:E1861-E1874(2010)
Cited for: CHARACTERIZATION OF VARIANTS FAP2 CYS-176; HIS-179; VAL-220; VAL-280; CYS-306; PRO-385; ASP-393; LEU-402 AND GLU-477 DEL; CHARACTERIZATION OF VARIANTS GLU-72; VAL-370 AND PHE-512; FUNCTION; MUTAGENESIS OF ASP-233;
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.