IthaID: 712



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 113 CTC>CAC [Leu>His] HGVS Name: HBA1:c.341T>A | HBA2:c.341T>A
Hb Name: Hb Twin Peaks Protein Info: α2 or α1 113(GH1) Leu>His

Context nucleotide sequence:
CTGCTGGTGACCCTGGCCGCCCACC [A/G/T] CCCCGCCGAGTTCACCCCTGCGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34375 or 38186
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: 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: Irish, Mexican
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Guis M, Mentzer WC, Jue DL, Johnson MH, McGuffey JE, Moo-Pen WF, Hemoglobin Twin Peaks alpha 113 (GH1) Leu----His., Hemoglobin , 9(2), 175-7, 1985 PubMed
  2. Sivaram MV, Sudha R, Roy RP, A role for the alpha 113 (GH1) amino acid residue in the polymerization of sickle hemoglobin. Evaluation of its inhibitory strength and interaction linkage with two fiber contact sites (alpha 16/23) located in the AB region of the alpha-chain., J. Biol. Chem. , 276(21), 18209-15, 2001 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:04:48 (Show full history)

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