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
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
- Carreira R, Palaré MJ, Prior AR, Garcia P, Abrantes M, An unusual cause of neonatal cyanosis…., BMJ Case Rep , 2015(0), , 2015
Created on 2018-02-20 18:05:01,
Last reviewed on (Show full history)
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