Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 854 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 EMGAKAASLDGPHEDPRCLS RPFSLLATRVSADLAQAARNS
Mouse EMAAEASSSDRPHGDPRHL- WTFSLHAAPGLADLAQVTRSS
Rat EMAAEGSGSDRPHGEPRHL- WTFSLHAAPGLVDLAQGTRSN
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 – 854 Disrupted in schizophrenia 1 protein
1 – 292 Interaction with MAP1A
23 – 372 Missing. In isoform 11.
Disruption of two novel genes by a translocation co-segregating with schizophrenia.
Millar J.K.; Wilson-Annan J.C.; Anderson S.; Christie S.; Taylor M.S.; Semple C.A.M.; Devon R.S.; St Clair D.M.; Muir W.J.; Blackwood D.H.R.; Porteous D.J.;
Hum. Mol. Genet. 9:1415-1423(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS GLN-264 AND CYS-704;
Evolutionary constraints on the Disrupted in Schizophrenia locus.
Taylor M.S.; Devon R.S.; Millar J.K.; Porteous D.J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4); VARIANT GLN-264;
Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.
Seki N.; Ohira M.; Nagase T.; Ishikawa K.; Miyajima N.; Nakajima D.; Nomura N.; Ohara O.;
DNA Res. 4:345-349(1997)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT GLN-264;
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