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UniProtKB/Swiss-Prot Q9ULV1: Variant p.Met342Val

Frizzled-4
Gene: FZD4
Variant information

Variant position:  342
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Methionine (M) to Valine (V) at position 342 (M342V, p.Met342Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Involvement in disease:  Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history. {ECO:0000269|PubMed:12172548, ECO:0000269|PubMed:14507768, ECO:0000269|PubMed:15035989, ECO:0000269|PubMed:15223780, ECO:0000269|PubMed:15370539, ECO:0000269|PubMed:15488808, ECO:0000269|PubMed:15733276, ECO:0000269|PubMed:15981244, ECO:0000269|PubMed:17093393, ECO:0000269|PubMed:17955262, ECO:0000269|PubMed:19172507, ECO:0000269|PubMed:19324841, ECO:0000269|PubMed:20340138}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In EVR1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  342
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  537
The length of the canonical sequence.

Location on the sequence:   ILTLTWFLAAGLKWGHEAIE  M HSSYFHIAAWAIPAVKTIVI
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                         ILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVI

Mouse                         ILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVI

Rat                           ILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVI

Chicken                       ILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVI

Xenopus laevis                ILTLTWFLAAGLKWGHEAIEMHSSYFHIAAWAIPAVKTIVI

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 37 – 537 Frizzled-4
Topological domain 324 – 344 Cytoplasmic


Literature citations

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.
Yoshida S.; Arita R.; Yoshida A.; Tada H.; Emori A.; Noda Y.; Nakao S.; Fujisawa K.; Ishibashi T.;
Am. J. Ophthalmol. 138:670-671(2004)
Cited for: VARIANT EVR1 VAL-342;

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M.; Hayashi H.; Oshima K.; Tahira T.; Hayashi K.; Kondo H.;
Hum. Mutat. 26:104-112(2005)
Cited for: VARIANTS EVR1 TYR-69; VAL-105; CYS-335; VAL-342; GLN-417 AND ASP-488;

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.