IthaID: 2024

Names and Sequences

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

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

Also known as:

Comments: Single nucleotide deletion (-C) at codon 143 resulting in a frameshift and the elongation of the β-globin chain, terminating translation at codon 157.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

LOVD

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

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

In silico pathogenicity prediction

Publications / Origin

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

Created on 2010-10-16 11:59:51, Last reviewed on 2023-08-04 12:57:56 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-10-16 11:59:51	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2019-11-07 10:18:01	The IthaGenes Curation Team	Reviewed. Common name, HGVS name and Location corrected. Allele and Context sequence added.
4	2019-11-07 10:19:42	The IthaGenes Curation Team	Reviewed. Protein info changed.
5	2023-08-04 12:57:56	The IthaGenes Curation Team	Reviewed. Common name corrected

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