IthaID: 1453
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 117 CAT>CGT | HGVS Name: | HBG2:c.353A>G |
| Hb Name: | Hb F-Malta-I | Protein Info: | Gγ 117(G19) His>Arg |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTGCTGGTGACCGTTTTGGCAATCC [A/G] TTTCGGCAAAGAATTCACCCCTGAG (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIRFGKEFTPEVQASWQKMVTGVASALSSRYH
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 44248 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Italian, Maltese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 325 | Hb F-Malta-I | Gγ | VARIANT II | β-thal Short Program | 49.7 | 1.16 | Heterozygous. Elutes near to HbF. Clinically normal. Associated in cis to Hb Valletta. | [PDF] | |
| 326 | Hb F-Malta-I | Gγ | VARIANT II | β-thal Short Program | 53.3 | 1.17 | Heterozygous. Elutes near to HbF. Clinically normal. Associated in cis to Hb Valletta. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Cauchi MN, Clegg JB, Weatherall DJ, Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants., Nature, 223(5203), 311-3, 1969
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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