IthaID: 561



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 55 GTT>CTT [Val>Leu] HGVS Name: HBA1:c.166G>C
Hb Name: Hb Roubaix Protein Info: α1 55(E4) Val>Leu

Context nucleotide sequence:
CGACCTGAGCCACGGCTCTGCCCAG [C/G] TTAAGGGCCACGGCAAGAAGGTGGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQLKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Poland

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37862
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: French, Polish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Préhu C, Bost M, Barro C, Promé D, Riou J, Godart C, Kister J, Galactéros F, Wajcman H, Hb Roubaix [alpha55(E4)Val-->Leu]: a new neutral hemoglobin variant involving the alpha1 gene., Hemoglobin , 23(4), 361-5, 1999 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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-28 14:25:44 (Show full history)

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