IthaID: 1331


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 4 ACT>ATT [Thr>Ile] HGVS Name: HBD:c.14C>T
Hb Name: N/A Protein Info: delta 4(A1) Thr>Ile

Context nucleotide sequence:
CAAACAGACACCATGGTGCATCTGA [C/G/T] TCCTGAGGAGAAGACTGCTGTCAAT (Strand: -)

Protein sequence:
MVHLIPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

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: 63196
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: Greek Cypriot, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S, Analysis of delta-globin gene mutations in Greek cypriots., Blood, 82(5), 1647-51, 1993
  2. 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 2010-06-16 16:13:17, Last reviewed on 2017-07-11 16:46:17 (Show full history)

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