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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Autoimmune polyendocrinopathy syndrome , type I

OMIM: 240300
Inheritance: Multiple
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

AIRE || c.232T>A

Gene/Locus:	AIRE
Dna Change:	c.232T>A
Protein Change:	p.Trp78Arg (W78R)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000383.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	the Salento peninsula in Puglia	6 families/8 unrelated families	NA	Meloni A et al., 2002Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC, . Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.. J. Clin. Endocrinol. Metab.. 2002; 87(2):841-6

References

Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC, Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.J. Clin. Endocrinol. Metab.. 2002; 87(2):841-6

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Autoimmune polyendocrinopathy syndrome , type I

References