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UniProtKB/Swiss-Prot Q00604: Variant p.Arg41Ser

Norrin
Gene: NDP
Variant information

Variant position:  41
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Arginine (R) to Serine (S) at position 41 (R41S, p.Arg41Ser).
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:  Change from large size and basic (R) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In persistent fetal vasculature syndrome.
Any additional useful information about the variant.



Sequence information

Variant position:  41
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  133
The length of the canonical sequence.

Location on the sequence:   DTDSKTDSSFIMDSDPRRCM  R HHYVDSISHPLYKCSSKMVL
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                         DTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVL

Mouse                         DTDSKTDSSFLMDS--QRCMRHHYVDSISHPLYKCSSKMVL

Bovine                        DTDSKTESSFMMDSDPQRCMRHHYVDSISHPLYKCSSKMVL

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 25 – 133 Norrin
Domain 39 – 132 CTCK
Disulfide bond 39 – 96
Beta strand 37 – 48


Literature citations

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.