IthaID: 609


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 74 GAC>GGC [Asp>Gly] HGVS Name: HBA1:c.224A>G
Hb Name: Hb Chapel Hill Protein Info: α1 74(EF3) Asp>Gly

Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACGTGG [A/G] CGACATGCCCAACGCGCTGTCCGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVGDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37920
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Orringer EP, Wilson JB, Huisman TH, Hemoglobin Chapel Hill or alpha2 74 Asp replaced by Gly beta2., FEBS Lett. , 65(3), 297-300, 1976
  2. Hsu L, Lung QF, Tang ZN, Fei YJ, Su CW, Chen SS, Webber BB, Wilson JB, Kutlar F, Huisman TH, Hb Chapel Hill or alpha 274(EF3)Asp----Gly beta 2 observed in a Chinese family in association with beta-thalassemia., Hemoglobin , 10(1), 77-86, 1986
  3. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2021-02-24 17:03:22 (Show full history)

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