IthaID: 783

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 141 CGT>CAT [Arg>His] HGVS Name: NM_000558.3(HBA1):c.425G>A
Hb Name: Hb Suresnes Protein Info: α1 141(HC3) Arg>His

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38270
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Poyart C, Krishnamoorthy R, Bursaux E, Gacon G, Labie D, Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant., FEBS Lett. , 69(1), 103-7, 1976 PubMed
  2. Gravely ME, Harris HF, Stallings M, Lam H, Wilson JB, Huisman TH, Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family., Hemoglobin , 2(2), 187-9, 1978 PubMed
  3. Poyart C, Bursaux E, Arnone A, Bonaventura J, Bonaventura C, Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site., J. Biol. Chem. , 255(19), 9465-73, 1980 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2024-04-12 11:51:06 (Show full history)

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