IthaID: 1485

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 121 GAA>AAA [Glu>Lys] HGVS Name: HBG1:c.364G>A
Hb Name: Hb F-Hull Protein Info: Aγ 121(GH4) Glu>Lys

Context nucleotide sequence:

Protein sequence:

Also known as: Hb F-Siena

Comments: Initially found as an electrophoretically slow component of the cord-blood haemoglobin (Hb) of three normal babies, making up 7-14% of the total Hb, and was characterized by protein analysis as a glutamic acid > lysine sustitution at position 121 in the γ-chain [PMID: 6038320]. Further characterization reported that this variant occurs in a Αγ chain [PMID: 4710228]. Molecular analysis with selected restriction endonucleases characterized Hb F-Hull as a GAA > AAA change at position Αγ121 [PMID: 2412617].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 49177
Size: 1 bp
Located at:
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: English, Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Sacker LS, Beale D, Black AJ, Huntsman RG, Lehmann H, Lorkin PA, Haemoglobin F Hull (gamma-121 glutamic acid--lysine), homologous with haemoglobins O Arab and O Indonesia., British medical journal, 3(5564), 531-3, 1967 PubMed
  2. Ahern EJ, Ahern V, Wiltshire BG, Lehmann H, Further characterization of haemoglobin F Hull 121 glutamic acid leads to lysine; 136 alanine., Biochim Biophys Acta, 303(2), 242-5, 1973 PubMed
  3. Carè A, Marinucci M, Massa A, Maffi D, Sposi NM, Improta T, Tentori L, Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant., Hemoglobin, 7(1), 79-83, 1983 PubMed
  4. Nakatsuji T, Burnley MS, Huisman TH, Fetal hemoglobin variants identified in adults through restriction endonuclease gene mapping methodology., Blood, 66(4), 803-7, 1985 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-04-28 14:31:35 (Show full history)

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