RAG1

Gene name: recombination activating gene 1
OMIM ID: 179615
Chromosome location: 11p12

Mutations

Disease/Phenotype	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Reference transcript	NM_000448.2
DNA Change	c.2942A>C
A.A. Change	p.Gln981Pro
Exon/Intron	exon 2
Mutation Type	substitution
Reference	de Villartay JP, Lim A, Al-Mousa H, Dupont S, D?chanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F.A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005 Nov;115(11):3291-9.

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Disease/Phenotype	Omenn syndrome
Reference transcript	NM_000448.2
DNA Change	c.631delT
A.A. Change	p.Cys211ValfsX53
Exon/Intron	exon 2
Mutation Type	deletion
Reference	Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A.Omenn syndrome with mutation in RAG1 gene. Indian J Pediatr. 2008 Sep;75(9):944-6.

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