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UniProtKB/Swiss-Prot Q9H251: Variant p.Arg1379Leu

Cadherin-23
Gene: CDH23
Chromosomal location: 10q21-q22
Variant information

Variant position:  1379
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 Arginine (R) to Leucine (L) at position 1379 (R1379L, p.Arg1379Leu).
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 medium size and hydrophobic (L)
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:  Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance. {ECO:0000269|PubMed:28413019}. 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 PITA5.
Any additional useful information about the variant.



Sequence information

Variant position:  1379
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3354
The length of the canonical sequence.

Location on the sequence:   KALFKIDAITGVITVQGLVD  R EKGDFYTLTVVADDGGPKVD
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                         KALFKIDAITGVITVQGLVDREKGDFYTLTVVADDGGPKVD

Mouse                         KALFKIDAITGVITVKGLVDREKGDFYTLTVVADDGGPKVD

Rat                           KALFKIDAITGVITVKGLVDREKGDFYTLTVVADDGGPKVD

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 24 – 3354 Cadherin-23
Topological domain 24 – 3064 Extracellular
Domain 1314 – 1418 Cadherin 13
Alternative sequence 1 – 2240 Missing. In isoform 7 and isoform 9.
Alternative sequence 25 – 3127 Missing. In isoform 10 and isoform 11.
Alternative sequence 531 – 3354 Missing. In isoform 5.
Alternative sequence 1213 – 3354 Missing. In isoform 6.
Turn 1379 – 1381


Literature citations

Germline mutations in CDH23, encoding cadherin-related 23, are associated with both familial and sporadic pituitary adenomas.
Zhang Q.; Peng C.; Song J.; Zhang Y.; Chen J.; Song Z.; Shou X.; Ma Z.; Peng H.; Jian X.; He W.; Ye Z.; Li Z.; Wang Y.; Ye H.; Zhang Z.; Shen M.; Tang F.; Chen H.; Shi Z.; Chen C.; Chen Z.; Shen Y.; Wang Y.; Lu S.; Zhang J.; Li Y.; Li S.; Mao Y.; Zhou L.; Yan H.; Shi Y.; Huang C.; Zhao Y.;
Am. J. Hum. Genet. 100:817-823(2017)
Cited for: VARIANTS PITA5 LEU-1379; HIS-2115; TRP-3138 AND ASN-3296;

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.