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UniProtKB/Swiss-Prot Q16666: Variant p.Asp103His

Gamma-interferon-inducible protein 16
Gene: IFI16
Variant information

Variant position:  103
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 Aspartate (D) to Histidine (H) at position 103 (D103H, p.Asp103His).
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 acidic (D) to medium size and polar (H)
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:  103
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  785
The length of the canonical sequence.

Location on the sequence:   KKEKLKVKGPALSRKRKKEV  D ATSPAPSTSSTVKTEGAEAT
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 – 785 Gamma-interferon-inducible protein 16
Region 91 – 191 Disordered
Modified residue 95 – 95 Phosphoserine
Modified residue 99 – 99 N6-acetyllysine
Modified residue 106 – 106 Phosphoserine
Cross 116 – 116 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutagenesis 99 – 99 K -> Q. Predominant cytoplasmic, reduces nuclear localization (mimics non-acetylated state).
Mutagenesis 99 – 99 K -> R. Minor effect on nuclear localization (mimics acetylated state).


Literature citations

A novel gene constitutively expressed in human lymphoid cells is inducible with interferon-gamma in myeloid cells.
Trapani J.A.; Browne K.A.; Dawson M.J.; Ramsay R.G.; Eddy R.L.; Show T.B.; White P.C.; Dupont B.;
Immunogenetics 36:369-376(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT HIS-103;

Genomic organization of IFI16, an interferon-inducible gene whose expression is associated with human myeloid cell differentiation: correlation of predicted protein domains with exon organization.
Trapani J.A.; Dawson M.J.; Apostolidis V.A.; Browne K.A.;
Immunogenetics 40:415-424(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2); VARIANT HIS-103;

Submission
Jiang C.; Zhang D.; Peng Y.; Zhang X.; Han Z.; Fu G.; Chen Z.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT HIS-103;

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.