IthaID: 658



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 89 CAC>CAG [His>Gln] HGVS Name: HBA1:c.270C>G
Hb Name: Hb Buffalo Protein Info: α1 89(FG1) His>Gln

Context nucleotide sequence:
CCGCCCTGAGCGACCTGCACGCGCA [A/C/G] AAGCTTCGGGTGGACCCGGTCAACT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAQKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37966
Size: 1 bp
Located at: α1
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: Arabian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Wild BJ, Green BN, Cooper EK, Lalloz MR, Erten S, Stephens AD, Layton DM, Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry., Blood cells, molecules & diseases, 27(3), 691-704, 2001 PubMed
  2. Hoyer JD, McCormick DJ, Snow K, Lawler J, Jadick M, Grageda R, Early JL, Ball C, Skarda P, Kubik KS, Holmes MW, Fairbanks VF, Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)]., Hemoglobin , 26(3), 291-8, 2002 PubMed
  3. Harteveld CL, Van Delft P, Akkermans N, Arkesteijn S, Van Rooijen-Nijdam IH, Kok PJ, Versteegh FG, Giordano PC, Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity., Hemoglobin , 28(3), 223-7, 2004 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 10:25:15 (Show full history)

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