IthaID: 588



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 64 GAC>AAC [Asp>Asn] HGVS Name: HBA2:c.193G>A
Hb Name: Hb G-Waimanalo Protein Info: α2 64(E13) Asp>Asn

Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [A/G/T] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVANALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Aida

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34085
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
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: Filipino, Indian, Romanian, Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Blackwell RQ, Jim RT, Tan TG, Weng MI, Liu CS, Wang CL, Hemoglobin G Waimanalo: alpha-64 Asp leads to Asn., Biochim. Biophys. Acta , 322(1), 27-33, 1973 PubMed
  2. Bunn HF, Altman AJ, Stangland K, Firshein SI, Forget B, Schmidt GJ, Jones RT, Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family., Hemoglobin , 2(6), 531-40, 1978 PubMed
  3. Baine RM, Wright JM, Wilkinson RW, HB G Waimanalo (alpha 64 Asp replaced by Asn) in a child with homozygous beta-thalassemia., Hemoglobin , 3(4), 293-8, 1979 PubMed
  4. Harano T, Harano K, Ueda S, Shibata S, Imai K, Hemoglobin G Waimanalo [alpha 64 (E13) Asp replaced by Asn] in a Japanese. Hematologic, functional and synthesis studies., Hemoglobin , 5(6), 591-7, 1981 PubMed
  5. Manca L, Masala B, Manca M, Ferranti P, Pucci P, Hb G-Waimanalo [alpha 64(E13)Asp-->Asn] observed in a Caucasian family., Hemoglobin , 18(1), 53-6, 1994 PubMed
  6. Landin B, Berg P, Alpha 2-globin gene mutation Hb G-Waimanalo: occurrence in combination with alpha-thalassemia-1., Hemoglobin , 18(1), 71-2, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-24 12:02:54 (Show full history)

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