TERMIUM Plus®

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MISSENSE MUTATION [1 record]

Record 1 2012-09-17

English

Subject field(s)
  • Genetics
CONT

A missense mutation in the extracellular loop of exon 2 (1550 GA, Val125Ile) was found in only one proband. This mutation was also examined in additional 34 unrelated patients with panic disorder and 112 controls. The prevalence rate of this mutation was 8.8% in patients with panic disorder (3/34) and 4.4% in controls (5/112). The mutation did not segregate with panic disorder in two families where this could be tested. These results suggest no pathophysiological significance of this mutation in panic disorder.

French

Domaine(s)
  • Génétique
DEF

Mutation qui échange un codon spécifiant un acide aminé contre un codon qui en spécifie un autre. [Définition normalisée par l'AFNOR et reproduite avec son autorisation.]

OBS

mutation faux-sens : terme normalisé par l'AFNOR.

Spanish

Campo(s) temático(s)
  • Genética
DEF

Mutación que sustituye un codón que especifica un aminoácido por un codón que especifica otro.

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