Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 290 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 TFVNHPQVSALLGEEDEEAL HYLTRVEVTEF--EDIKSGYRID
Mouse TFVNHPQVSALLGEEDEEAL HYLTRVEVTEF--EDIKSGYR
Rat TFVNHPQVSALLGEEDEEAL HYLTRVEVTEF--EDIKSGYR
Drosophila SFINHPQVSGILDEEEEECL HALNKLEVEEF--EDIKSGYR
Slime mold IFTNLFLKLGFVDEL----- ----TMCVDDFFVEDTETEFR
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.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Stevens S.J.C.; van der Schoot V.; Leduc M.S.; Rinne T.; Lalani S.R.; Weiss M.M.; van Hagen J.M.; Lachmeijer A.M.A.; Stockler-Ipsiroglu S.G.; Lehman A.; Brunner H.G.;
Hum. Mutat. 39:1014-1023(2018)
Cited for: INVOLVEMENT IN MRD58; VARIANTS MRD58 GLY-95 AND TYR-118;
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