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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IWY9: Variant p.Arg1042Trp

Codanin-1
Gene: CDAN1
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Variant information Variant position: help 1042 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Tryptophan (W) at position 1042 (R1042W, p.Arg1042Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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
Variant description: help In CDAN1A; partially disrupts ASF1 binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1042 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1227 The length of the canonical sequence.
Location on the sequence: help PLPSHLISEIKDVLSLAVGP R DPDEGVSPEHLEQLLGQLGQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PLPSHLISEIK-------DVLSLAVGPRDPDEGVSPEHLEQLLGQLGQ

Mouse                         PLPSHLISEIKFHHCSLQDVLSLAAGPRDPEEGVSPEHLEQ
Sequence annotation in neighborhood: help 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 2 – 1227 Codanin-1



Literature citations
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Dgany O.; Avidan N.; Delaunay J.; Krasnov T.; Shalmon L.; Shalev H.; Eidelitz-Markus T.; Kapelushnik J.; Cattan D.; Pariente A.; Tulliez M.; Cretien A.; Schischmanoff P.-O.; Iolascon A.; Fibach E.; Koren A.; Roessler J.; Le Merrer M.; Yaniv I.; Zaizov R.; Ben-Asher E.; Olender T.; Lancet D.; Beckmann J.S.; Tamary H.;
Am. J. Hum. Genet. 71:1467-1474(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); TISSUE SPECIFICITY; VARIANTS CDAN1A SER-599; LEU-672; LYS-698; TRP-714; ILE-868; MET-869; TRP-1042; VAL-1043 AND LEU-1130; Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.
Ask K.; Jasencakova Z.; Menard P.; Feng Y.; Almouzni G.; Groth A.;
EMBO J. 31:2013-2023(2012)
Cited for: SUBCELLULAR LOCATION; FUNCTION; INTERACTION WITH ASF1A AND ASF1B; IDENTIFICATION IN A COMPLEX WITH ASF1A; ASF1B; IPO4; HISTONES H3.2 AND H4; CHARACTERIZATION OF VARIANTS TRP-714 AND TRP-1042; IDENTIFICATION BY MASS SPECTROMETRY;
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.