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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q00604: Variant p.Cys96Tyr

Norrin
Gene: NDP
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Variant information Variant position: help 96 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 Cysteine (C) to Tyrosine (Y) at position 96 (C96Y, p.Cys96Tyr). 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 polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 ND. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 133 The length of the canonical sequence.
Location on the sequence: help EPLVSFSTVLKQPFRSSCHC C RPQTSKLKALRLRCSGGMRL 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                         EPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRL

Mouse                         EPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRL

Bovine                        EPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRL
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 25 – 133 Norrin
Domain 39 – 132 CTCK
Disulfide bond 39 – 96
Disulfide bond 55 – 110
Disulfide bond 65 – 126
Disulfide bond 69 – 128
Disulfide bond 93 – 93 Interchain (with C-95)
Disulfide bond 95 – 95 Interchain (with C-93)
Mutagenesis 95 – 95 C -> A. Impairs oligomerization.
Beta strand 94 – 110



Literature citations
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Meindl A.; Berger W.; Meitinger T.; van de Pol D.; Achatz H.; Dorner C.; Haasemann M.; Hellebrand H.; Gal A.; Cremers F.P.M.; Ropers H.-H.;
Nat. Genet. 2:139-143(1992)
Cited for: VARIANTS ND CYS-44; GLU-60 AND TYR-96; Mutations in the candidate gene for Norrie disease.
Berger W.; van de Pol D.; Warburg M.; Gal A.; Bleeker-Wagemakers L.; de Silva H.; Meindl A.; Meitinger T.; Cremers F.P.M.; Ropers H.-H.;
Hum. Mol. Genet. 1:461-465(1992)
Cited for: VARIANTS ND PHE-61; CYS-74; CYS-75; PRO-90 AND TYR-96; Norrie disease and exudative vitreoretinopathy in families with affected female carriers.
Shastry B.S.; Hiraoka M.; Trese D.C.; Trese M.T.;
Eur. J. Ophthalmol. 9:238-242(1999)
Cited for: VARIANTS ND TYR-96 AND ASP-118;
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.