IthaID: 3918
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | CD 37 TGG>TTG [Trp>Leu] | HGVS Name: | HBB:c.113G>T |
Hb Name: | Hb Alessandria | Protein Info: | β 37(C3) Trp>Leu |
Context nucleotide sequence:
CTTAGGCTGCTGGTGGTCTACCCTT [G/T] GACCCAGAGGTTCTTTGAGTCCTTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPLTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a case with normal haematological indices and no clinical complications. Protein stability was normal and oxygen affinity was found to be slightly increased. Hb variant was detected by capillary electrophoresis during the measurement of HbA1c with the relative amount of Hb Alessandria being 39.9%. Hb variant did not separate from HbA using HPLC method.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | Increased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 70837 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Italian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Maffei, Massimo | 2022-04-28 | First report. |
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2022-05-02 11:43:56 | The IthaGenes Curation Team | Created |
2 | 2022-05-02 11:45:51 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |