IthaID: 1569
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -196 C>T | HGVS Name: | HBG1:c.-249C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCAGTATCCTCTTGGGGGCCCCTTC [C/T] CCACACTATCTCAATGCAAATATCT (Strand: -)
Also known as: Italian/Chinese non-deletional HPFH
Comments: HPFH mutation, 12-40% of HbF in individuals carrying beta-thalassemia mutations. Disrupts binding site (CCCCTTCCCC) of LRF transcriptional repressor.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 47563 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Italian, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Giglioni B, Casini C, Mantovani R, Merli S, Comi P, Ottolenghi S, Saglio G, Camaschella C, Mazza U, A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia., The EMBO journal, 3(11), 2641-5, 1984
- Gelinas R, Bender M, Lotshaw C, Waber P, Kazazian H, Stamatoyannopoulos G, Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter., Blood, 67(6), 1777-9, 1986
- Weber L, Frati G, Felix T, Hardouin G, Casini A, Wollenschlaeger C, Meneghini V, Masson C, De Cian A, Chalumeau A, Mavilio F, Amendola M, Andre-Schmutz I, Cereseto A, El Nemer W, Concordet JP, Giovannangeli C, Cavazzana M, Miccio A, Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype., Sci Adv . , 6(7), 0, 2020
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-10-08 13:24:27 (Show full history)
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