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UniProtKB/Swiss-Prot Q9UK53: Variant p.Cys358Ser

Inhibitor of growth protein 1
Gene: ING1
Variant information

Variant position:  358
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 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:  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:  -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

Involvement in disease:  Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]: A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. {ECO:0000269|PubMed:10866301}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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



Sequence information

Variant position:  358
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  422
The length of the canonical sequence.

Location on the sequence:   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:  
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 – 422 Inhibitor of growth protein 1
Zinc finger 353 – 402 PHD-type
Metal binding 356 – 356 Zinc 1
Metal binding 358 – 358 Zinc 1
Metal binding 369 – 369 Zinc 2
Metal binding 374 – 374 Zinc 2
Binding site 355 – 355 Histone H3K4me3
Binding site 366 – 366 Histone H3K4me3
Binding site 370 – 370 Histone H3K4me3
Binding site 378 – 378 Histone H3K4me3
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)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 5); VARIANTS HNSCC ARG-125; ASP-335; SER-358 AND SER-359;

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.