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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q00604: Variant p.His42Arg

Norrin
Gene: NDP
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Variant information Variant position: help 42 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 Histidine (H) to Arginine (R) at position 42 (H42R, p.His42Arg). 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 (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 EVR2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 42 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 TDSKTDSSFIMDSDPRRCMR H HYVDSISHPLYKCSSKMVLL 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                         TDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLL

Mouse                         TDSKTDSSFLMDS--QRCMRHHYVDSISHPLYKCSSKMVLL

Bovine                        TDSKTESSFMMDSDPQRCMRHHYVDSISHPLYKCSSKMVLL

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
Beta strand 37 – 48



Literature citations
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry B.S.; Hejtmancik J.F.; Trese M.T.;
Hum. Mutat. 9:396-401(1997)
Cited for: VARIANTS EVR2 LYS-41; ARG-42; ASN-58 AND CYS-120; VARIANT RETINOPATHY OF PREMATURITY PRO-108; Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
Wu W.-C.; Drenser K.; Trese M.; Capone A. Jr.; Dailey W.;
Arch. Ophthalmol. 125:225-230(2007)
Cited for: VARIANTS EVR2 ARG-42; ILE-61 AND TRP-121; VARIANTS ND ARG-39 AND TYR-65; VARIANT PERSISTENT FETAL VASCULATURE SYNDROME SER-41;
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.