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:

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


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-chain variant
Allele Phenotype:Methemoglobinaemia
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 42972
Size: 1 bp
Located at:
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

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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)

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