IthaID: 4045
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 40 AGG>GGG [Arg>Gly] | HGVS Name: | HBB:c.121A>G |
| Hb Name: | Hb Montpellier | Protein Info: | N/A |
Context nucleotide sequence:
TGCTGGTGGTCTACCCTTGGACCCAG [A>G] GGTTCTTTGAGTCCTTTGGGGATCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQGFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a 55-year-old woman with a discrepancy between O2 percutaneal saturation (91%) and arterial blood gas saturation (97%) with a PaO2 at 92 mmHg. p50 measured at 21 mmHg on Hemox analyzer. Reported in a heterozygous state with Hb 13 g/dL, Hb A 44 %, Hb A2 2.7 %, Hb F 2.9 %, Hb X 40 % of total Hb.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70845 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!