IthaID: 2969



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 71 TTT>TAT [Phe>Tyr] HGVS Name: HBB:c.215T>A
Hb Name: Hb Saint-Clair Protein Info: β 71(E15) Phe>Tyr

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAYSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Found as a heterozygote. Given the family history of polycythaemia and the high Hb level of the proband, this Hb variant was suspected to have a high oxygen affinity despite the normal measured p50. The variant showed instability with the isopropanol test.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70939
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: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: British
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2016-08-23 15:30:29, Last reviewed on 2016-08-24 15:35:06 (Show full history)

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