IthaID: 3239


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 42 TTT>CTT [Phe>Leu] HGVS Name: HBD:c.127T>C
Hb Name: Hb A2-Huadu Protein Info: N/A

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFLESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63437
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-thalassaemia, δ-chain variant
Allele Phenotype:δ0
δ+
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

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

Publications / Origin

  1. Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
Created on 2017-07-12 12:49:52, Last reviewed on (Show full history)

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