IthaID: 775



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 139 -A HGVS Name: HBA1:c.420delA | HBA2:c.420delA
Hb Name: Hb Wayne Protein Info: α2 or α1 139 (-A); modified C-terminal sequence: (139)Asn-Thr-Val-Lys-Leu-Glu-Pro-(146)Arg-COOH

Context nucleotide sequence:
CTGTGAGCACCGTGCTGACCTCCAA [-/A] TACCGTTAAGCTGGAGCCTCGGTGG (Strand: +)

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34454 or 38265
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Nachmansohn D, Transduction of chemical into electrical energy., Proc. Natl. Acad. Sci. U.S.A. , 73(1), 82-5, 1976 PubMed
  2. Huisman TH, Headlee MG, Wilson JB, Lam H, Johnson SE, Webber BB, Hb Wayne, the frameshift variant with extended alpha chains observed in a Caucasian family from Alabama., Hemoglobin , 8(1), 1-15, 1984 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 12:49:56 (Show full history)

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