IthaID: 99

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys) HGVS Name: HBB:c.92G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The G>A substitution change the second base of the last nucleotide of exon 1, which is part of the consensus splice site for the exon.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70686
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: African-Cubans, Indian, Asian Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Vidaud M, Gattoni R, Stevenin J, Vidaud D, Amselem S, Chibani J, Rosa J, Goossens M, A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 86(3), 1041-5, 1989 PubMed
  2. Varawalla NY, Old JM, Weatherall DJ, Rare beta-thalassaemia mutations in Asian indians., British journal of haematology, 79(4), 640-4, 1991 PubMed
  3. Muñiz A, Martinez G, Lavinha J, Pacheco P, Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean., Am. J. Hematol. , 64(1), 7-14, 2000 PubMed
  4. Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, Mohanty D, Ghosh K, Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population., Blood Cells Mol. Dis. , 42(3), 241-6, 2009 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2022-11-10 10:29:05 (Show full history)

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