PubMed:2265255
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/2265255","sourcedb":"PubMed","sourceid":"2265255","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/2265255","text":"Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha 2 109leu----arg)\nHemoglobin (Hb) Suan-Dok (alpha 109Arg) is a rare alpha-globin structural mutation that is linked to an alpha-thalassemia (alpha-thal) determinant. When inherited in trans to an alpha-thal-1 mutation (-), it results in Hb H disease associated with low levels (9%) of the Suan-Dok Hb. The nature of the thalassemic defect associated with the alpha SD mutation has been investigated by structural and functional studies. Sequence analysis of the cloned Suan-Dok allele showed a missense mutation (T----G) at codon 109 in an otherwise normal alpha 2-globin gene. When the alpha 2SD-globin gene was introduced into mouse erythroleukemia cells, the steady state alpha-globin messenger RNA (mRNA) level was equivalent to the alpha A-globin gene control. Although in vitro translation of a synthetic alpha 2SD-globin mRNA generated levels of alpha globin equivalent to alpha 2A-globin mRNA at early time points, the ratio of alpha SD to alpha A globin decreased markedly at later time points. These data suggest that the thalassemic defect associated with the Suan-Dok mutation results from a significant instability of the alpha SD globin.","tracks":[{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":170,"end":182},"obj":"gene:3040"},{"id":"T1","span":{"begin":224,"end":241},"obj":"disease:C0002312"},{"id":"T2","span":{"begin":170,"end":182},"obj":"gene:3040"},{"id":"T3","span":{"begin":224,"end":241},"obj":"disease:C1456873"},{"id":"T4","span":{"begin":170,"end":182},"obj":"gene:3039"},{"id":"T5","span":{"begin":224,"end":241},"obj":"disease:C0002312"},{"id":"T6","span":{"begin":170,"end":182},"obj":"gene:3039"},{"id":"T7","span":{"begin":224,"end":241},"obj":"disease:C1456873"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"2265255-0#105#118#geners41479844","span":{"begin":105,"end":118},"obj":"geners41479844"},{"id":"2265255-0#20#37#diseaseC0002312","span":{"begin":20,"end":37},"obj":"diseaseC0002312"},{"id":"2265255-0#20#37#diseaseC1456873","span":{"begin":20,"end":37},"obj":"diseaseC1456873"}],"relations":[{"id":"105#118#geners4147984420#37#diseaseC0002312","pred":"associated_with","subj":"2265255-0#105#118#geners41479844","obj":"2265255-0#20#37#diseaseC0002312"},{"id":"105#118#geners4147984420#37#diseaseC1456873","pred":"associated_with","subj":"2265255-0#105#118#geners41479844","obj":"2265255-0#20#37#diseaseC1456873"}],"attributes":[{"subj":"2265255-0#105#118#geners41479844","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"2265255-0#20#37#diseaseC0002312","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"2265255-0#20#37#diseaseC1456873","pred":"source","obj":"DisGeNET5_variant_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET","color":"#93ecc1","default":true},{"id":"DisGeNET5_variant_disease","color":"#eca793"}]}]}}