Table 7.

Notable HBB Pathogenic Variants

Reference SequencesDNA Nucleotide Change 1Predicted Protein Change 2Hb Variant
NM_000518​.4
NP_000509​.1 		c.20A>Tp.Glu6Val
(p.Glu7Val)		HbS
c.19G>Ap.Glu6Lys
(p.Glu7Lys)		HbC
c.79G>Ap.Glu26Lys
(p.Glu27Lys)		HbE
c.364G>Cp.Glu121Gln
(p.Glu122Gln)		HbD
c.364G>Ap.Glu121Lys
(p.Glu122Lys)		HbOArab

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

DNA nucleotide changes follow current nomenclature guidelines, where the number 1 corresponds to the first nucleotide of the initiating methionine.

2.

In this column and throughout the text of the GeneReview, the protein changes (e.g., p.Glu6Val) follow the long-standing convention in the hemoglobin literature of beginning the numbering of amino acids at the second amino acid residue (Val) rather than the initiating Met. This convention was adopted many years ago because the initiating methionine is not part of the mature beta globin protein. The standard nomenclature for protein changes is given in parentheses. The Globin Gene Server (globin​.bx.psu.edu) lists variants using both numbering conventions.

From: Sickle Cell Disease

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