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UniProtKB/Swiss-Prot O00170: Variant p.Lys241Glu

AH receptor-interacting protein
Gene: AIP
Variant information

Variant position:  241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Lysine (K) to Glutamate (E) at position 241 (K241E, p.Lys241Glu).
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 (K) to medium size and acidic (E)
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:  Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]: 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. {ECO:0000269|PubMed:16728643, ECO:0000269|PubMed:17244780, ECO:0000269|PubMed:17299063, ECO:0000269|PubMed:17341560, ECO:0000269|PubMed:17360484, ECO:0000269|PubMed:18410548}. 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 PITA1; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  330
The length of the canonical sequence.

Location on the sequence:   PEWIQLDQQITPLLLNYCQC  K LVVEEYYEVLDHCSSILNKY
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                         PEWIQLDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKY

Mouse                         PDWIQLDLQITPLLLNYCQCKLVAQEYYEVLDHCSSILNKY

Rat                           PDWIQLDLQITPLLLNYCQCKLVAQEYYEVLDHCSSILNKY

Bovine                        PDWIQLDQQITPLLLNYCQCKLVAEEYYEVLDHCSSILNKY

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 – 330 AH receptor-interacting protein
Repeat 231 – 264 TPR 2
Helix 221 – 243


Literature citations

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.
Daly A.F.; Vanbellinghen J.-F.; Khoo S.K.; Jaffrain-Rea M.-L.; Naves L.A.; Guitelman M.A.; Murat A.; Emy P.; Gimenez-Roqueplo A.-P.; Tamburrano G.; Raverot G.; Barlier A.; De Herder W.; Penfornis A.; Ciccarelli E.; Estour B.; Lecomte P.; Gatta B.; Chabre O.; Sabate M.I.; Bertagna X.; Garcia Basavilbaso N.; Stalldecker G.; Colao A.; Ferolla P.; Wemeau J.-L.; Caron P.; Sadoul J.-L.; Oneto A.; Archambeaud F.; Calender A.; Sinilnikova O.; Montanana C.F.; Cavagnini F.; Hana V.; Solano A.; Delettieres D.; Luccio-Camelo D.C.; Basso A.; Rohmer V.; Brue T.; Bours V.; Teh B.T.; Beckers A.;
J. Clin. Endocrinol. Metab. 92:1891-1896(2007)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PITA1 47-GLY--ARG-54 DEL; GLU-241 AND TRP-271; INVOLVEMENT IN PITA1; VARIANT HIS-16;

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.