UniProtKB/Swiss-Prot Q9UKV3: Variant p.Ala447Pro

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

447 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 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.

Variant rs941719 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
Chain	1 – 1341	Apoptotic chromatin condensation inducer in the nucleus
Region	159 – 460	Disordered
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];

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