IthaID: 3322



Names and Sequences

Functionality: Globin gene causative mutation
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

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.

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Spanish
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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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