
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 |
Also known as: | HbA2-Mitsero |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CAAACAGACACCATGGTGCATCTGA [C>T] TCCTGAGGAGAAGACTGCTGTCAAT (Strand: -)
Protein sequence:
MVHLIPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
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, Sicilian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- 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
- Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzà M, Maggio A, Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations., Haematologica, 91(12), 1681-4, 2006
- Lacerra G, Scarano C, Lagona LF, Testa R, Caruso DG, Medulla E, Friscia MG, Mastrullo L, Caldora M, Prezioso R, Gaudiano C, Magnano C, Romeo MA, Musollino G, Di Noce F, Carestia C, Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes., Hemoglobin, 34(5), 407-23, 2010
- 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 2023-01-27 11:53:50 (Show full history)
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