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UniProtKB/Swiss-Prot O14593: Variant p.Leu195Pro

DNA-binding protein RFXANK
Gene: RFXANK
Chromosomal location: 19p12
Variant information

Variant position:  195
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 Leucine (L) to Proline (P) at position 195 (L195P, p.Leu195Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. {ECO:0000269|PubMed:10072068, ECO:0000269|PubMed:10725724, ECO:0000269|PubMed:22649097, ECO:0000269|PubMed:9806546}. 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 BLS2; loss of expression.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  195
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  260
The length of the canonical sequence.

Location on the sequence:   LLLERDVDINIYDWNGGTPL  L YAVRGNHVKCVEALLARGAD
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGAD

Mouse                         LLLDRDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGAD

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 – 260 DNA-binding protein RFXANK
Repeat 189 – 218 ANK 4
Helix 193 – 199


Literature citations

Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.
Xu C.; Jin J.; Bian C.; Lam R.; Tian R.; Weist R.; You L.; Nie J.; Bochkarev A.; Tempel W.; Tan C.S.; Wasney G.A.; Vedadi M.; Gish G.D.; Arrowsmith C.H.; Pawson T.; Yang X.J.; Min J.;
Sci. Signal. 5:RA39-RA39(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (1.57 ANGSTROMS) OF 90-260 IN COMPLEX WITH RFX5 PEPTIDE; CHARACTERIZATION OF VARIANT BLS2 PRO-195; MUTAGENESIS OF ASP-121 AND TYR-224;

Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
Nagarajan U.M.; Peijnenburg A.; Gobin S.J.; Boss J.M.; van den Elsen P.J.;
J. Immunol. 164:3666-3674(2000)
Cited for: VARIANT BLS2 PRO-195; FUNCTION;

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.