UniProtKB/Swiss-Prot Q9NRI5: Variant p.Ser704Cys

Disrupted in schizophrenia 1 protein
Gene: DISC1
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Variant information Variant position:

704 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Serine (S) to Cysteine (C) at position 704 (S704C, p.Ser704Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from small size and polar (S) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs821616 [ dbSNP | Ensembl ]

Sequence information 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:

CPLLGKVWEADLEACRLLIQ S LQLQEARGSLSVEDERQMDD 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                         CPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDD

Mouse                         CPLLGRVWKADLETCQLLMQSLQLQEAGSSPHAEDEEQVHS

Rat                           CPLLERVWKADLEACQLLMQSLEIQEAGSSSHVEDEKQVHS

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
Chain	1 – 854	Disrupted in schizophrenia 1 protein
Region	446 – 854	Necessary and sufficient for interaction with PCNT and localization at the centrosome
Region	598 – 854	Interaction with ATF4 and ATF5
Alternative sequence	357 – 854	Missing. In isoform 10.
Alternative sequence	370 – 854	Missing. In isoform 4.
Alternative sequence	552 – 854	Missing. In isoform 11.
Alternative sequence	580 – 854	Missing. In isoform 6 and isoform 7.
Alternative sequence	661 – 854	ETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA -> DGVSLCRPVWSAVVRSCSLQPLPPEFKQFSCLSLRSSWDYRCPPPCLANFVFLVEMGFYHVDQTGLKLLTSSDPPSSASQSAGITDMSHCAWPLQ. In isoform 5.
Alternative sequence	663 – 854	Missing. In isoform 9.
Alternative sequence	679 – 854	Missing. In isoform 3.
Alternative sequence	696 – 854	Missing. In isoform 8.

Literature citations
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;

Disclaimer: 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.