IthaID: 2453
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 125 GAG>GCG [Glu>Ala] | HGVS Name: | HBG1:c.377A>C |
| Hb Name: | Hb F-Port Royal II | Protein Info: | Aγ 125(H3) Glu>Ala |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
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: | 49190 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Kutlar F, Ameri A, Patel NH, Zhuang L, Johnson LE, Cheng ML, Kutlar A, Two new γ chain variants: Hb F-Augusta GA [(G)γ59(E3)Lys → Arg; HBG2: c.179A > G] and Hb F-Port Royal-II [(A)γ125(H3)Glu → Ala; HBG1: c.377A > C]., Hemoglobin , 38(5), 376-80, 2014
Created on 2014-06-03 12:12:11,
Last reviewed on 2015-01-12 16:22:09 (Show full history)
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