IthaID: 709


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 112 CAC>CGC [His>Arg] HGVS Name: HBA1:c.338A>G | HBA2:c.338A>G
Hb Name: Hb Strumica Protein Info: α2 or α1 112(G19) His>Arg

Context nucleotide sequence:
TGCCTGCTGGTGACCCTGGCCGCCC [A/G] CCTCCCCGCCGAGTTCACCCCTGCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAARLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Serbia

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34372 or 38183
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Macedonian, Serbian, Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Niazi GA, Efremov GD, Nikolov N, Hunter E, Huisman TH, Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population)., Biochim. Biophys. Acta , 412(1), 181-6, 1975
  2. Beksedić D, Rajevska T, Hb Serbia (alpha 112 (G19) His leads to Arg), a new haemoglobin variant from Yugoslavia., FEBS Lett. , 58(1), 226-9, 1975
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 16:55:37 (Show full history)

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