OMIM: 608957Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CD8A |
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| Dna Change: | c.331G>A |
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| Protein Change: | p.Gly111Ser |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_001768.6 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | Gypsy | NA | carrier rate of 0.4% | NA | Mancebo E et al., 2008Mancebo E, Moreno-Pelayo MA, Mencía A, de la Calle-Martín O, Allende LM, Sivadorai P, Kalaydjieva L, Bertranpetit J, Coto E, Calleja-Antolín S, Ruiz-Contreras J, Paz-Artal E, . Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.. Mol. Immunol.. 2008; 45(2):479-84 |
References
Mancebo E, Moreno-Pelayo MA, Mencía A, de la Calle-Martín O, Allende LM, Sivadorai P, Kalaydjieva L, Bertranpetit J, Coto E, Calleja-Antolín S, Ruiz-Contreras J, Paz-Artal E, Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.Mol. Immunol.. 2008; 45(2):479-84