Variant position: 704 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 CPLLGKVWEADLEACRLLIQ SLQLQEARGSLSVEDERQM----DD
Mouse CPLLGRVWKADLETCQLLMQ SLQLQEAGSSPHAEDEEQVHS
Rat CPLLERVWKADLEACQLLMQ SLEIQEAGSSSHVEDEKQVHS
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
446 – 854 Necessary and sufficient for interaction with PCNT and localization at the centrosome
598 – 854 Interaction with ATF4 and ATF5
357 – 854 Missing. In isoform 10.
370 – 854 Missing. In isoform 4.
552 – 854 Missing. In isoform 11.
580 – 854 Missing. In isoform 6 and isoform 7.
661 – 854 ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA -> DGVSLCRPVWSAVVRSCSLQPLPPEFKQFSCLSLRSSWDYRCPPPCLANFVFLVEMGFYHVDQTGLKLLTSSDPPSSASQSAGITDMSHCAWPLQ. In isoform 5.
663 – 854 Missing. In isoform 9.
679 – 854 Missing. In isoform 3.
696 – 854 Missing. In isoform 8.
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;
Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia.
Callicott J.H.; Straub R.E.; Pezawas L.; Egan M.F.; Mattay V.S.; Hariri A.R.; Verchinski B.A.; Meyer-Lindenberg A.; Balkissoon R.; Kolachana B.; Goldberg T.E.; Weinberger D.R.;
Proc. Natl. Acad. Sci. U.S.A. 102:8627-8632(2005)
Cited for: INVOLVEMENT IN SCZD9; VARIANT CYS-704;
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.