IthaID: 40
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CAP +41 to +44 (-AACA) | HGVS Name: | HBB:c.-10_-7delAACA |
Hb Name: | N/A | Protein Info: | β nts 40 - 43 deleted |
Also known as: | CAP +40 to +43 (-AAAC) |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACAACTGTGTTCACTAGCAACCTCA [-/AACA] GACACCATGGTGCATCTGACTCCT (Strand: -)
Comments: Found in a heterozygous state during molecular screening. In vitro experiments did not show functional effects of the genetic variant. Further investigation was suggested. Papers reported a 4 bp deletion -AAAC [HBB: c.-11_-8delAAAC], which does not follow the 3' prime rule of HGVS recommendations.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β+ |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70585 |
Size: | 4 bp |
Located at: | β |
Specific Location: | 5'UTR |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
---|---|
Effect on Gene/Protein Function: | 5'UTR (Transcription) |
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Huang SZ, Xu YH, Zeng FY, Wu DF, Ren ZR, Zeng YT, A novel beta-thalassaemia mutation: deletion of 4 bp (-AAAC) in the 5' transcriptional sequence., British journal of haematology, 78(1), 125-6, 1991 PubMed
- Francès V, Morlé F, Godet J, Functional analysis of the 4 bp deletion identified in the 5' untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote., Br. J. Haematol. , 84(1), 163-5, 1993 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2021-12-15 11:39:21 (Show full history)
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