IthaID: 783


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 141 CGT>CAT [Arg>His] HGVS Name: HBA1:c.425G>A | HBA2:c.425G>A
Hb Name: Hb Suresnes Protein Info: α2 or α1 141(HC3) Arg>His

Context nucleotide sequence:
AGCACCGTGCTGACCTCCAAATACC [A/C/G/T] TTAAGCTGGAGCCTCGGTGGCCATG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYH

Also known as:

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34459 or 38270
Size: 1 bp or 1 bp
Located at: α1 or α2
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

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
  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
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 15:40:13 (Show full history)

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