IthaID: 1450
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 102 AAC>ACC [Asn>Thr] | HGVS Name: | HBG2:c.308A>C |
| Hb Name: | Hb F-Sarajevo | Protein Info: | Gγ 102(G4) Asn>Thr |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GACAAGCTGCATGTGGATCCTGAGA [A/C] CTTCAAGGTGAGTCCAGGAGATGTT (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPETFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
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: | Bosnian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lozar-Krivec J, Stepic M, Hovnik T, Krsnik M, Paro-Panjan D, Neonatal Cyanosis Due to Hemoglobin Variant: Hb F-Sarajevo., J Pediatr Hematol Oncol, 38(7), e267-70, 2016
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-08-27 13:26:39 (Show full history)
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