IthaID: 3940



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 50 ACT>TCT [Thr>Ser]; IVS II-654 C>T HGVS Name: HBB:c.[151A>T;316-197C>T]
Hb Name: Hb Zurich-Langstrasse Protein Info: β 50(D1) Thr>Ser

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The Hb Zürich-Langstrasse mutation [IthaID:970] in the proband was considered a de novo mutation occurring in cis on the βIVS-II-654 [IthaID:211] allele that he inherited from his mother, resulting in a βIVS-II-654/Hb Zürich-Langstrasse genotype, which should be interpreted as a novel β0 mutation.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70875 or 71693
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Liao J, Li Q, Ling LQ, Liu CN, Huang XB, Zhou J, A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (: c.151A>T) mutation ]., Hemoglobin, 2022 PubMed
Created on 2022-06-24 12:13:58, Last reviewed on 2022-06-24 13:54:27 (Show full history)

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