Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.

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Citation

Huisman TH, Wilson JB, Gravely M, Hubbard M

Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues.

Proc Natl Acad Sci U S A. 1974 Aug;71(8):3270-3.

PubMed ID
4528583 [ View in PubMed
]
Abstract

A black 25-year-old woman and her father have a fast-moving alpha chain variant in an amount of 8% (the father) and 18% (the daughter). Structural data indicate that this chain has been elongated by the addition of three amino-acid residues to give the sequence: -Pro(114)-Ala(115)-Glu(116)-Phe(117)-Thr(118)-Glu-Phe-Thr-Pro(119)-Ala(120)-. The underlying genetic alteration responsible for hemoglobin Grady appears, therefore, to be a tandem duplication of nine base pairs which may have arisen by a process of mismatched intragenic crossing over. Functional and physicochemical properties of the variant are not greatly altered, and hematological data are normal.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Hemoglobin subunit alphaP69905Details