IthaID: 2560


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 142 GCT>GTT [Ala>Val] HGVS Name: HBD:c.428C>T
Hb Name: Hb A2-Episkopi Protein Info: N/A

Context nucleotide sequence:
GTGGCTGGTGTGGCTAATGCCCTGG [C>T] TCACAAGTACCATTGAGATCCTGGA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALVHKYH

Also known as:

Comments: Full information for this mutation is withheld pending acceptance for publication.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64636
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Lederer CW, Pavlou E, Tanteles GA, Evangelidou P, Sismani C, Kolnagou A, Sitarou M, Christou S, Hadjigavriel M, Kleanthous M, Hb A Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent., Hematology, 22(5), 304-309, 2017

Microattributions

A/AContributor(s)DateComments
1Lederer, Carsten W.2015-09-01First report.
Created on 2015-09-01 16:14:34, Last reviewed on 2024-02-28 16:15:19 (Show full history)

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