IthaID: 2435

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 67 GTG>ATG [Val>Met] HGVS Name: HBG2:c.202G>A
Hb Name: Hb Toms River Protein Info: Gγ 67(E11) Val>Met

Context nucleotide sequence:

Protein sequence:

Also known as: Hb F-Heuried

Comments: Found in a father and daughter with transient neonatal cyanosis and anaemia

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 43211
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Crowley MA, Mollan TL, Abdulmalik OY, Butler AD, Goodwin EF, Sarkar A, Stolle CA, Gow AJ, Olson JS, Weiss MJ, A hemoglobin variant associated with neonatal cyanosis and anemia., N Engl J Med, 364(19), 1837-43, 2011 PubMed
Created on 2014-05-30 12:44:22, Last reviewed on 2022-04-18 22:57:21 (Show full history)

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