IthaID: 1456
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 121 GAA>AAA | HGVS Name: | HBG2:c.364G>A |
| Hb Name: | Hb F-Carlton | Protein Info: | Gγ 121(GH4) Glu>Lys |
Context nucleotide sequence:
CGTTTTGGCAATCCATTTCGGCAAA [A/G] AATTCACCCCTGAGGTGCAGGCTTC (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKKFTPEVQASWQKMVTGVASALSSRYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 44259 |
| 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 |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Brennan SO, Smith MB, Carrell RW, Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes., Biochimica et biophysica acta, 490(2), 452-5, 1977
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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