IthaID: 1488

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 128 GCT>ACT HGVS Name: HBG1:c.385G>A
Hb Name: Hb F-Baskent Protein Info: Aγ 128(H6) Ala>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 49198
Size: 1 bp
Located at:
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Altay C, Gurgey A, Wilson JB, Hu H, Webber BB, Kutlar F, Huisman TH, Hb F-Baskent or alpha 2A gamma 128(H6)Ala----Thr., Hemoglobin, 12(1), 87-9, 1988
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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