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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42768: Variant p.Glu133Lys

Actin nucleation-promoting factor WAS
Gene: WAS
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Variant information Variant position: help 133 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 Glutamate (E) to Lysine (K) at position 133 (E133K, p.Glu133Lys). 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 (E) to large size and basic (K) 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 WAS; severe form. Any additional useful information about the variant.


Sequence information Variant position: help 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 502 The length of the canonical sequence.
Location on the sequence: help FFHTFAGDDCQAGLNFADED E AQAFRALVQEKIQKRNQRQS 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                         FFHTFAGDDCQAGLNFADEDEAQAFRALVQEKIQKRNQRQS

Mouse                         FFHTFAGDDCQVGLNFADESEAQAFRALVQEKIQKRNQRQS
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 2 – 502 Actin nucleation-promoting factor WAS
Domain 39 – 148 WH1



Literature citations
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
Kwan S.-P.; Hagemann T.L.; Radtke B.E.; Blaese R.M.; Rosen F.S.;
Proc. Natl. Acad. Sci. U.S.A. 92:4706-4710(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS WAS TRP-43; MET-45; LEU-58; LYS-133 AND THR-134; Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
Kolluri R.; Shehabeldin A.; Peacocke M.; Lamhonwah A.-M.; Teichert-Kuliszewska K.; Weissman S.M.; Siminovitch K.A.;
Hum. Mol. Genet. 4:1119-1126(1995)
Cited for: VARIANTS WAS HIS-30 DEL; LYS-31; MET-75; PRO-82; CYS-86; HIS-86; CYS-97; LYS-133 AND GLU-476; Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.
MacCarthy-Morrogh L.; Gaspar H.B.; Wang Y.-C.; Katz F.; Thompson L.; Layton M.; Jones A.M.; Kinnon C.;
Clin. Immunol. Immunopathol. 88:22-27(1998)
Cited for: VARIANTS WAS MET-75; LEU-84; ASP-89 AND LYS-133; X-linked Wiskott-Aldrich syndrome in a girl.
Parolini O.; Ressmann G.; Haas O.A.; Pawlowsky J.; Gadner H.; Knapp W.; Holter W.;
N. Engl. J. Med. 338:291-295(1998)
Cited for: VARIANT WAS LYS-133; Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
Lemahieu V.; Gastier J.M.; Francke U.;
Hum. Mutat. 14:54-66(1999)
Cited for: VARIANTS WAS ARG-73; CYS-86 AND LYS-133; VARIANTS THC1 MET-75 AND CYS-83;
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.