IthaID: 481



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 21 GCT>CCT [Ala>Pro] HGVS Name: HBA2:c.64G>C
Hb Name: Hb Fontainebleau Protein Info: α2 21(B2) Ala>Pro

Context nucleotide sequence:
CGCCTGGGGTAAGGTCGGCGCGCAC [C/G/T] CTGGCGAGTATGGTGCGGAGGCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHPGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33839 or 37643
Size: 1 bp or 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Sickling
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: Italian, Omani
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Blouquit Y, Gombaud-Saintonge G, Riou J, Galacteros F, Hb Fontainebleau [alpha 21(B2)Ala----pro], a new silent mutant hemoglobin., Hemoglobin , 13(5), 421-8, 1989 PubMed
  2. Daar S, Al Zadjali S, Alkindi S, Wali Y, Al-Rawas A, Al-Haddabi H, Al-Riyami AZ, Haemoglobin Fontainebleau (HBA2: c. 64G>C) in Oman: molecular and haematological characteristics and interaction with various haemoglobinopathies., J. Clin. Pathol. , 2017 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2017-11-13 17:51:42 (Show full history)

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