E31Q (p.Glu31Gln) variant of HBA1 (Hemoglobin subunit alpha)
E31Q (p.Glu31Gln) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in O-Padova. The record also includes published literature and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- TOPMed rs33993166
- gnomAD rs33993166
- Uncertain significance
- in O-Padova
- Missense
- EBI: Variant of uncertain significance (in O-Padova)
- UniProt: Uncertain significance (in O-Padova)
- Structural context available
- Cited in: Hb G-Chinese: a G-->C substitution at codon 30 of the alpha2-globin gene creates a PstI cutting site. (PMID 11939521)
- Cited in: Association of Hb G-Chinese [alpha30(B11)Glu --> Gln] with alpha-thalassemia-1 of the Thai type in a Taiwanese family. (PMID 12603093)