IthaID: 1169

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 107 GGC>GAC HGVS Name: HBB:c.323G>A
Hb Name: Hb Lulu Island Protein Info: β 107(G9) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71897
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Gray GR, Manson HE, Gu LH, Leonova JYe , Huisman TH, Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia., American journal of hematology, 50(1), 26-9, 1995 PubMed
  2. Papassotiriou I, Stamoulakatou A, Wajcman H, Kister J, Dimisianos G, Lazaropoulou C, Kanavaki I, Vavourakis E, Kattamis A, Kanavakis E, Traeger-Synodinos J, Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family., Hemoglobin, 30(4), 409-18, 2006 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-01-20 12:07:47 (Show full history)

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