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UniProtKB/Swiss-Prot Q9UKV3: Variant p.Ala447Pro

Apoptotic chromatin condensation inducer in the nucleus
Gene: ACIN1
Variant information

Variant position:  447
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Proline (P) at position 447 (A447P, p.Ala447Pro).
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 hydrophobic (A) to medium size and hydrophobic (P)
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.



Sequence information

Variant position:  447
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1341
The length of the canonical sequence.

Location on the sequence:   PPHPQLHSEEEIEPMEGPAP  A VLIQLSPPNTDADTRELLVS
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                         PPHPQLHSEEEIEPMEGPAPAVLIQLSPPNTDADTRELLVS

Mouse                         PTHIQL--QEEMEPVEGPAPPVLIQLSPPNTDAGAREPLAS

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.

TypePositionsDescription
Chain 1 – 1341 Apoptotic chromatin condensation inducer in the nucleus
Modified residue 434 – 434 Phosphoserine
Modified residue 453 – 453 Phosphoserine
Alternative sequence 1 – 758 Missing. In isoform 3.
Alternative sequence 1 – 727 Missing. In isoform 2.


Literature citations

Acinus is a caspase-3-activated protein required for apoptotic chromatin condensation.
Sahara S.; Aoto M.; Eguchi Y.; Imamoto N.; Yoneda Y.; Tsujimoto Y.;
Nature 401:168-173(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); PARTIAL PROTEIN SEQUENCE; FUNCTION; MUTAGENESIS OF ASP-1093; VARIANT PRO-447;

Full-length cDNA libraries and normalization.
Li W.B.; Gruber C.; Jessee J.; Polayes D.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANT PRO-447;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PRO-447;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANT PRO-447;

Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Ishikawa K.; Nagase T.; Suyama M.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:169-176(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 56-1341 (ISOFORM 1); VARIANT PRO-447;

Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
Cantin G.T.; Yi W.; Lu B.; Park S.K.; Xu T.; Lee J.-D.; Yates J.R. III;
J. Proteome Res. 7:1346-1351(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-434; SER-453; SER-895 AND SER-898; VARIANT [LARGE SCALE ANALYSIS] PRO-447; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-166; SER-169; SER-216; SER-240; SER-243; THR-254; SER-295; SER-365; SER-384; SER-386; SER-388; THR-393; SER-410; THR-414; SER-453; SER-490; TYR-512; SER-561; SER-655; SER-657; THR-682; SER-710; THR-720; SER-838 AND SER-1004; VARIANT [LARGE SCALE ANALYSIS] PRO-447; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-132; SER-216; SER-240; SER-243; THR-254; SER-328; SER-365; SER-386; SER-388; SER-400; SER-410; THR-414; THR-420; SER-490; SER-522; SER-561; SER-655; SER-657; THR-682; SER-710; SER-714; SER-825; SER-838; THR-976; SER-987; SER-990 AND SER-1004; VARIANT [LARGE SCALE ANALYSIS] PRO-447; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Bian Y.; Song C.; Cheng K.; Dong M.; Wang F.; Huang J.; Sun D.; Wang L.; Ye M.; Zou H.;
J. Proteomics 96:253-262(2014)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-166; SER-169; SER-216; SER-365; SER-400; SER-410; THR-414; SER-453; SER-478; SER-490; SER-561; SER-710; SER-825; SER-838; SER-898 AND SER-1004; PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-825 (ISOFORM 4); VARIANT [LARGE SCALE ANALYSIS] PRO-447; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.