IthaID: 3496


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 10 GCT>GTT [Ala>Val] HGVS Name: HBD:c.32C>T
Hb Name: Hb A2-Canakkale Protein Info: δ 10(A7) Ala>Val

Context nucleotide sequence:
CATCTGACTCCTGAGGAGAAGACTG [C>T] TGTCAATGCCCTGTGGGGCAAAG (Strand: -)

Protein sequence:
MVHLTPEEKTVVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The variant is presumed to be stable just like its β chain counterpart, Hb Iraq-Halabja [IthaID: 841].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63214
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Karakaya T, Silan F, Ozdemir O, A New Mutation, Hb A-Canakkale [δ10(A7)Ala→Val; : c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A Levels., Hemoglobin, 2022
Created on 2019-11-22 09:08:06, Last reviewed on 2022-08-09 09:44:31 (Show full history)

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