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UniProtKB/Swiss-Prot Q8TEW0: Variant p.Pro913Gln

Partitioning defective 3 homolog
Gene: PARD3
Variant information

Variant position:  913
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 Glutamine (Q) at position 913 (P913Q, p.Pro913Gln).
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 medium size and polar (Q)
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:27925688}. Note=Disease susceptibility is associated with variations 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; reduces interaction with PRKCA; increases phosphorylation; disrupts tight junction formation in epithelial cells.
Any additional useful information about the variant.

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



Sequence information

Variant position:  913
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1356
The length of the canonical sequence.

Location on the sequence:   LQTAVAEVTLNGDIPFHRPR  P RIIRGRGCNESFRAAIDKSY
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.

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 – 1356 Partitioning defective 3 homolog
Region 712 – 936 Interaction with PRKCI and PRKCZ


Literature citations

Rare deleterious PARD3 variants in the aPKC-binding region are implicated in the pathogenesis of human cranial neural tube defects via disrupting apical tight junction formation.
Chen X.; An Y.; Gao Y.; Guo L.; Rui L.; Xie H.; Sun M.; Lam Hung S.; Sheng X.; Zou J.; Bao Y.; Guan H.; Niu B.; Li Z.; Finnell R.H.; Gusella J.F.; Wu B.L.; Zhang T.;
Hum. Mutat. 38:378-389(2017)
Cited for: FUNCTION; INTERACTION WITH PRKCA; SUBCELLULAR LOCATION; INVOLVEMENT IN NTD; VARIANTS NTD HIS-349; GLY-783 AND GLN-913; CHARACTERIZATION OF VARIANTS NTD GLY-783 AND GLN-913;

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.