Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q00653: Variant p.Asp865Gly

Nuclear factor NF-kappa-B p100 subunit
Gene: NFKB2
Feedback?
Variant information Variant position: help 865 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Aspartate (D) to Glycine (G) at position 865 (D865G, p.Asp865Gly). 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 acidic (D) to glycine (G) 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 CVID10; uncertain significance; de novo mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 865 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 900 The length of the canonical sequence.
Location on the sequence: help RLLRGPETRDKLPSTAEVKE D SAYGSQSVEQEAEKLGPPPE 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                         RLLRGPETRDKLPSTAEVKEDSAYGSQSVEQEA--------EKLGPPPE

Mouse                         RLLKGPETRDKLPST-EVKEDSAYGSQSVEQEA--------

Chicken                       RMLRKPEPLEKLQST-EVKEDSAYGSESVEEEQA-------

Xenopus laevis                ELLCKSETYAKHHSPAESKNDSAYESQSMEVDQSSGNLMDD

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 1 – 900 Nuclear factor NF-kappa-B p100 subunit
Region 849 – 900 Disordered
Modified residue 866 – 866 Phosphoserine; by MAP3K14
Modified residue 870 – 870 Phosphoserine; by MAP3K14
Cross 855 – 855 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 429 – 900 Missing. In isoform 3.
Alternative sequence 860 – 860 Missing. In isoform 4.
Mutagenesis 866 – 866 S -> A. Decrease in MAP3K14-induced phosphorylation; no inducible processing occurs; when associated with A-869.
Mutagenesis 870 – 870 S -> A. Decrease in MAP3K14-induced phosphorylation; no inducible processing occurs; when associated with A-865.



Literature citations
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
Brue T.; Quentien M.H.; Khetchoumian K.; Bensa M.; Capo-Chichi J.M.; Delemer B.; Balsalobre A.; Nassif C.; Papadimitriou D.T.; Pagnier A.; Hasselmann C.; Patry L.; Schwartzentruber J.; Souchon P.F.; Takayasu S.; Enjalbert A.; Van Vliet G.; Majewski J.; Drouin J.; Samuels M.E.;
BMC Med. Genet. 15:139-139(2014)
Cited for: VARIANTS CVID10 GLY-865 AND VAL-867;
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.