IthaID: 100

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr)	HGVS Name:	HBB:c.92G>C
Hb Name:	Hb Monroe	Protein Info:	β 30(B12) Arg>Thr

Context nucleotide sequence:
GAAGTTGGTGGTGAGGCCCTGGGCA [A/C/G] GTTGGTATCAAGGTTACAAGACAGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGTLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Kairouan

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	LOVD
ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-thalassaemia, β-chain variant
Allele Phenotype:	β0 Thalassaemia
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Splice junction (mRNA Processing)
Ethnic Origin:	Mediterranean, African-American, N Africans, Kurds, UAE, African, Libyan, Tunisian, Pakistani
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

Publications / Origin

Chibani J, Vidaud M, Duquesnoy P, Bergé-Lefranc JL, Pirastu M, Ellouze F, Rosa J, Goossens M, The peculiar spectrum of beta-thalassemia genes in Tunisia., Human genetics, 78(2), 190-2, 1988 PubMed
Gonzalez-Redondo JM, Stoming TA, Kutlar F, Kutlar A, Hu H, Wilson JB, Huisman TH, Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron., Hemoglobin, 13(1), 67-74, 1989 PubMed
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
Rund D, Cohen T, Filon D, Dowling CE, Warren TC, Barak I, Rachmilewitz E, Kazazian HH, Oppenheim A, Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan., Proceedings of the National Academy of Sciences of the United States of America, 88(1), 310-4, 1991 PubMed
Bennani C, Bouhass R, Perrin-Pecontal P, Tamouza R, Malou M, Elion J, Trabuchet G, Beldjord C, Benabadji M, Labie D, Anthropological approach to the heterogeneity of beta-thalassemia mutations in northern Africa., Human biology; an international record of research, 66(3), 369-82, 1994 PubMed
el-Kalla S, Mathews AR, A significant beta-thalassemia heterogeneity in the United Arab Emirates., Hemoglobin, 21(3), 237-47, 1997 PubMed
Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed

Created on 2010-06-16 16:13:14, Last reviewed on 2022-10-27 12:20:44 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:14	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2016-09-02 14:23:16	The IthaGenes Curation Team	Reviewed. Origin and Reference added.
4	2022-10-27 12:20:44	The IthaGenes Curation Team	Reviewed. Synonym name and paper added.

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