IthaID: 1391


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 140 GCC>GTC HGVS Name: HBD:c.422C>T
Hb Name: Hb A2-Bagheria Protein Info: δ 140(H18) Ala>Val

Context nucleotide sequence:
AAGGTGGTGGCTGGTGTGGCTAATG [C/T] CCTGGCTCACAAGTACCATTGAGAT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANVLAHKYH

Also known as:

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: 64630
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. 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
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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