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UniProtKB/Swiss-Prot Q9NYQ6: Variant p.Pro2983Ala

Cadherin EGF LAG seven-pass G-type receptor 1
Gene: CELSR1
Chromosomal location: 22q13.3
Variant information

Variant position:  2983
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 Proline (P) to Alanine (A) at position 2983 (P2983A, p.Pro2983Ala).
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 medium size and hydrophobic (P) to small size and hydrophobic (A)
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:  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:22095531}. Note=The disease may be 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; shows reduced protein localization to the cell membrane.
Any additional useful information about the variant.

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



Sequence information

Variant position:  2983
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3014
The length of the canonical sequence.

Location on the sequence:   SSRTSSLGSGGPDCAITVKS  P GREPGRDHLNGVAMNVRTGS
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                         SSRTSSLGSG----GPDCAITVKSPGREPGRDHLNGVAMNVRTGS

Mouse                         SSRTSSLGSGDGVHATDCVITIKTPRREPGREHLNGVAMNV

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 21 – 3014 Cadherin EGF LAG seven-pass G-type receptor 1
Topological domain 2705 – 3014 Cytoplasmic
Alternative sequence 1398 – 3014 Missing. In isoform 2.


Literature citations

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Robinson A.; Escuin S.; Doudney K.; Vekemans M.; Stevenson R.E.; Greene N.D.; Copp A.J.; Stanier P.;
Hum. Mutat. 33:440-447(2012)
Cited for: VARIANTS NTD VAL-773; GLN-2438; LEU-2964 AND ALA-2983; VARIANTS PRO-2312 AND THR-2739; CHARACTERIZATION OF VARIANTS NTD VAL-773; GLN-2438; LEU-2964 AND ALA-2983; CHARACTERIZATION OF VARIANTS PRO-2312 AND THR-2739;

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.