Variant position: 1596 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1802 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 LSASEEDENMGGEDKEKKET KEKSHLSTSESGELGSSLSSE
Mouse LSASEEDESMGGEEKEMKET KEQVHLSSSESGELGSSLSSE
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 – 1802 Bromodomain and WD repeat-containing protein 3
1520 – 1725 Disordered
1566 – 1603 Basic and acidic residues
1577 – 1577 Phosphoserine
1579 – 1579 Phosphoserine
1387 – 1802 Missing. In isoform 5.
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Field M.; Tarpey P.S.; Smith R.; Edkins S.; O'Meara S.; Stevens C.; Tofts C.; Teague J.; Butler A.; Dicks E.; Barthorpe S.; Buck G.; Cole J.; Gray K.; Halliday K.; Hills K.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Varian J.; West S.; Widaa S.; Mallya U.; Wooster R.; Moon J.; Luo Y.; Hughes H.; Shaw M.; Friend K.L.; Corbett M.; Turner G.; Partington M.; Mulley J.; Bobrow M.; Schwartz C.; Stevenson R.; Gecz J.; Stratton M.R.; Futreal P.A.; Raymond F.L.;
Am. J. Hum. Genet. 81:367-374(2007)
Cited for: VARIANT MRX93 GLU-1596;
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