IthaID: 4180
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 102 AAC>AGC [Asn>Ser] | HGVS Name: | HBG2:c.308A>G |
| Hb Name: | Hb F-SickKids | Protein Info: | Gγ 102(G4) Asn>Ser |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GACAAGCTGCATGTGGATCCTGAGA [A/G] CTTCAAGGTGAGTCCAGGAGATGTT (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPESFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Comments: Identified in a newborn presented with transient neonatal cyanosis that resolved following the postnatal γ-to-β globin switch.
External Links
No available 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: | 43317 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | East Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Waye, John S. | 2026-02-24 | First report. |
Created on 2026-02-27 10:54:28,
Last reviewed on (Show full history)
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