Variant position: 527 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 853 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 LVGTGTAAEAKLQEPWSCYM CLPQRCHGVLRRRKDWNVRLQ
Mouse LVGAGTAEDAKLQEPWSCYM CLPQRCHGVLRRRKDWNMRLQ
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 – 853 DNA (cytosine-5)-methyltransferase 3B
423 – 555 ADD
475 – 531 PHD-type; atypical
435 – 527 Interaction with the PRC2/EED-EZH2 complex
Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy.
van den Boogaard M.L.; Lemmers R.J.; Balog J.; Wohlgemuth M.; Auranen M.; Mitsuhashi S.; van der Vliet P.J.; Straasheijm K.R.; van den Akker R.F.; Kriek M.; Laurense-Bik M.E.; Raz V.; van Ostaijen-Ten Dam M.M.; Hansson K.B.; van der Kooi E.L.; Kiuru-Enari S.; Udd B.; van Tol M.J.; Nishino I.; Tawil R.; Tapscott S.J.; van Engelen B.G.; van der Maarel S.M.;
Am. J. Hum. Genet. 98:1020-1029(2016)
Cited for: VARIANTS FSHD2 ARG-527 AND LEU-691; FUNCTION;
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