IthaID: 3322
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 28 CTG>ATG [Leu>Met] | HGVS Name: | HBG2:c.85C>A |
| Hb Name: | Hb F-M Viseu | Protein Info: | Gγ 28(B10) Leu>Met |
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETMGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Also known as:
Comments: Hb F-M Viseu associates with the methemoglobin (Met-Hb) phenotype. The mutation occurs in the γ-globin chain, hence the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin. It was first reported in neonates with cyanosis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | Methemoglobinaemia |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 42972 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Bento C, Magalhães Maia T, Carvalhais I, Moita F, Abreu G, Relvas L, Pereira A, Farela Neves J, Ribeiro ML, Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu., J. Pediatr. Hematol. Oncol. , 35(2), e77-80, 2013 PubMed
- Carreira R, Palaré MJ, Prior AR, Garcia P, Abrantes M, An unusual cause of neonatal cyanosis…., BMJ Case Rep , 2015(0), , 2015 PubMed
Created on 2018-02-20 18:05:01,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-02-20 18:05:01 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07