Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.
We have identified silent amino acid substitutions in two alpha chain variants present in families from Iowa, USA, and Granada, Spain. Both involve an alanine residue in the core peptide, namely Ala-->Val at position 111 (codon change in the alpha 2 gene; GCC->GTC; Hb Anamosa) and Ala-->Ser at position 123 (codon change in the alpha 1 gene; GCC-->TCC; Hb Mulhacen). The two variants are stable. Sequencing of the amplified alpha 2- and alpha 1-globin genes greatly facilitated the characterization of the two variants.
Kazanetz
E G
EG
Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta 30912-2100, USA.
Leonova
J Y
JY
Wilson
J B
JB
McMillan
S K
SK
Walbrecht
M
M
de Pablos Gallego
J M
JM
Huisman
T H
TH
D000328:Adult; D000409:Alanine; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D012694:Serine; D014633:Valine
D006455:Hemoglobins, Abnormal; C094677:hemoglobin Anamosa; C094678:hemoglobin Mulhacen; D012694:Serine; D005914:Globins; D004247:DNA; D014633:Valine; D000409:Alanine