IthaID: 255


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 127 (CAG>TAG) Gln to Term CD (127aa) HGVS Name: HBB:c.382C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGGCAAAGAATTCACCCCACCAGTG [C>T] AGGCTGCCTATCAGAAAGTGGTGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVX

Also known as:

Comments: Reported in the heterozygous state with marked microcytic chronic hemolytic anemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71956
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: English
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Hall GW, Franklin IM, Sura T, Thein SL, A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype., British journal of haematology, 79(2), 342-4, 1991
  2. Préhu C, Pissard S, Al-Sheikh M, Le Niger C, Bachir D, Galactéros F, Wajcman H, Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])., Hemoglobin, 29(3), 229-33, 2005
Created on 2010-06-16 16:13:15, Last reviewed on 2023-08-09 10:10:15 (Show full history)

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