IthaID: 2024



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 142/143 (-C) HGVS Name: HBB:c.430delC
Hb Name: Hb Montreal II Protein Info: β 142 (-C)

Context nucleotide sequence:
CTGGTGTGGCTAATGCCCTGGCC [-/C] ACAAGTATCACTAAGCTCGCTTTC (Strand: -)

Also known as:

Comments: Single nucleotide deletion (-C) resulting in a frameshift and the elongation of the β-globin chain, terminating translation at codon 157.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
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: 72004
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Canadian
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Chagnon P, Mollica L, Belisle C, Deveaux C, Angelo GD, Roy DC, Soulières D, Busque L., Hb Montreal II: a novel elongated beta-globin variant caused by a frameshift mutation [beta142 (-C)]., Hemoglobin, 32(4), 351-9, 2008 PubMed
Created on 2010-10-16 11:59:51, Last reviewed on 2019-11-07 10:19:42 (Show full history)

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