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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04628: Variant p.Arg235Trp

Proto-oncogene Wnt-1
Gene: WNT1
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Variant information Variant position: help 235 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 Arginine (R) to Tryptophan (W) at position 235 (R235W, p.Arg235Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In OSTEOP; completely fails to activate the Wnt-regulated beta-catenin signaling cascade. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 370 The length of the canonical sequence.
Location on the sequence: help RQECKCHGMSGSCTVRTCWM R LPTLRAVGDVLRDRFDGASR 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                         RQECKCHGMSGSCTVRTCWMRLPTLRAVGDVLRDRFDGASR

Mouse                         RQECKCHGMSGSCTVRTCWMRLPTLRAVGDVLRDRFDGASR

Chicken                       RQECKCHGMSGSCTVRTCWMRLPTFRAVGDVLKDRFDGASR

Xenopus laevis                RQECKCHGMSGSCSLRTCWMRLPPFRSVGDALKDRFDGASK

Zebrafish                     QQECKCHGMSGSCTVRTCWMRLPSFRLVGDYLKDRFDGASR

Caenorhabditis elegans        RRECKCHGMSGSCEMRTCWDSLPNFRHIGMAIKDKFDGAAE
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 28 – 370 Proto-oncogene Wnt-1
Lipidation 224 – 224 O-palmitoleoyl serine; by PORCN



Literature citations
Mutations in WNT1 cause different forms of bone fragility.
Keupp K.; Beleggia F.; Kayserili H.; Barnes A.M.; Steiner M.; Semler O.; Fischer B.; Yigit G.; Janda C.Y.; Becker J.; Breer S.; Altunoglu U.; Gruenhagen J.; Krawitz P.; Hecht J.; Schinke T.; Makareeva E.; Lausch E.; Cankaya T.; Caparros-Martin J.A.; Lapunzina P.; Temtamy S.; Aglan M.; Zabel B.; Eysel P.; Koerber F.; Leikin S.; Garcia K.C.; Netzer C.; Schoenau E.; Ruiz-Perez V.L.; Mundlos S.; Amling M.; Kornak U.; Marini J.; Wollnik B.;
Am. J. Hum. Genet. 92:565-574(2013)
Cited for: FUNCTION; INVOLVEMENT IN BMND16; VARIANTS OI15 CYS-177 AND CYS-298; VARIANT OSTEOP TRP-235; CHARACTERIZATION OF VARIANT OI15 CYS-177; CHARACTERIZATION OF VARIANT OSTEOP TRP-235;
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.