IthaID: 1051

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 75 CTG>CCG HGVS Name: HBB:c.227T>C
Hb Name: Hb Atlanta Protein Info: β 75(E19) Leu>Pro

Context nucleotide sequence:

Protein sequence:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70951
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Caucasian | Dutch | New Zealand
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Hubbard M, Winton EF, Lindeman JG, Dessauer PL, Wilson JB, Wrightstone RN, Huisman TH, Hemoglobin Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family., Biochimica et biophysica acta, 386(2), 538-41, 1975
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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