Variant position: 1984 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2696 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 KGEFVNEYVGELIDEEECRA RIRYAQEHDITNFYMLTLDKD
Mouse KGEFVNEYVGELIDEEECRA RIRYAQEHDITNFYMLTLDKD
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 – 2696 Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
1942 – 2059 SET
1978 – 1990
The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
Qiao Q.; Li Y.; Chen Z.; Wang M.; Reinberg D.; Xu R.M.;
J. Biol. Chem. 286:8361-8368(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 1852-2082 IN COMPLEX WITH S-ADENOSYL-L-METHIONINE AND ZINC IONS; FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF ARG-1914 AND ARG-1952; CHARACTERIZATION OF SOTOS1 VARIANTS GLN-1984; GLN-2005 AND GLN-2017;
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M.; Clech L.; Amiel J.; Faivre L.; Lyonnet S.; Le Merrer M.; Odent S.; Lacombe D.; Edery P.; Brauner R.; Raoul O.; Gosset P.; Prieur M.; Vekemans M.; Munnich A.; Colleaux L.; Cormier-Daire V.;
J. Med. Genet. 40:436-440(2003)
Cited for: VARIANTS SOTOS1 ASN-1687; ASP-1955; GLN-1984; CYS-1997 AND TRP-2017;
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.