IthaID: 1016


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 65 AAG>ATG HGVS Name: HBB:c.197A>T
Hb Name: Hb J-Antakya Protein Info: β 65(E9) Lys>Met

Context nucleotide sequence:
AACCCTAAGGTGAAGGCTCATGGCA [A/T] GAAAGTGCTCGGTGCCTTTAGTGAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGMKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70921
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Turkish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Huisman TH, Wilson JB, Kutlar A, Yang KG, Chen SS, Webber BB, Altay C, Martinez AV, Hb J-Antakya or alpha 2 beta (2)65(E9)Lys----Met in a Turkish family and Hb complutense or alpha 2 beta (2)127(H5)Gln----Glu in a Spanish family; correction of a previously published identification., Biochimica et biophysica acta, 871(2), 229-31, 1986
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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