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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UK53: Variant p.Cys358Ser

Inhibitor of growth protein 1
Gene: ING1
Variant information Variant position: help 358 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 Cysteine (C) to Serine (S) at position 358 (C358S, p.Cys358Ser). 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 medium size and polar (C) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In HNSCC. Any additional useful information about the variant.

Sequence information Variant position: help 358 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 422 The length of the canonical sequence.
Location on the sequence: help EREASPADLPIDPNEPTYCL C NQVSYGEMIGCDNDECPIEW 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.
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.
Chain 1 – 422 Inhibitor of growth protein 1
Zinc finger 353 – 402 PHD-type
Binding site 356 – 356
Binding site 358 – 358
Binding site 369 – 369
Binding site 374 – 374
Site 355 – 355 Histone H3K4me3 binding
Site 366 – 366 Histone H3K4me3 binding
Site 370 – 370 Histone H3K4me3 binding
Site 378 – 378 Histone H3K4me3 binding
Mutagenesis 378 – 378 W -> A. Unable to stimulate DNA repair after UV irradiation or promote DNA-damage-induced apoptosis.
Turn 356 – 359

Literature citations
Genomic structure of the human ING1 gene and tumor-specific mutations detected in head and neck squamous cell carcinomas.
Gunduz M.; Ouchida M.; Fukushima K.; Hanafusa H.; Etani T.; Nishioka S.; Nishizaki K.; Shimizu K.;
Cancer Res. 60:3143-3146(2000)
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.