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UniProtKB/Swiss-Prot Q9ULK5: Variant p.Phe437Ser

Vang-like protein 2
Gene: VANGL2
Chromosomal location: 1q22-q23
Variant information

Variant position:  437
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 Phenylalanine (F) to Serine (S) at position 437 (F437S, p.Phe437Ser).
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 aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269|PubMed:20558380}. 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 NTD; the mutation protein completely abrogates interaction with DVL1 compared to wild-type.
Any additional useful information about the variant.

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



Sequence information

Variant position:  437
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  521
The length of the canonical sequence.

Location on the sequence:   MESILQHLEFCITHDMTPKA  F LERYLAAGPTIQYHKERWLA
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                         MESILQHLEFCITHDMTPKAFLERYLAAGPTIQYHKERWLA

Mouse                         MESILQHLEFCITHDMTPKAFLERYLAAGPTIQYHKERWLA

Rat                           MESILQHLEFCITHDMTPKAFLERYLAAGPTIQYHKERWLA

Xenopus tropicalis            MESILHHLEFCITHDMTPKAFLERYLGPGPTIQYHKDRWLA

Zebrafish                     MESIISHLQFCITHNMTPKAFLERYLTPGPTMQYQRENGRG

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 1 – 521 Vang-like protein 2
Topological domain 239 – 521 Cytoplasmic


Literature citations

VANGL2 mutations in human cranial neural-tube defects.
Lei Y.P.; Zhang T.; Li H.; Wu B.L.; Jin L.; Wang H.Y.;
N. Engl. J. Med. 362:2232-2235(2010)
Cited for: VARIANTS NTD PHE-84; CYS-353 AND SER-437; CHARACTERIZATION OF VARIANTS NTD CYS-353 AND SER-437;

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.