IthaID: 2971

Names and Sequences

Functionality:	Neutral polymorphism	Pathogenicity:	Benign / Likely Benign
Common Name:	-44 C>A	HGVS Name:	HBA2:c.-81C>A

Context nucleotide sequence:
AATGAGCGCCGCCCGGCCGGGCGTG [C>A] CCCCGCGCCCCAAGCATAAAC (Strand: +)

Also known as:

Comments: Found as a heterozygote. Point-mutation located at the proximal promoter region affecting the α-inverted repeat protein (α-IRP) recognition site. α-IRP is a transcriptional activator. Functional studies did not show a statistically significant change in the transcriptional activity compared to the wild type. Reported as a polymoprhic variant.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

ClinVar

Phenotype

Allele Phenotype:	Neutral
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	33695
Size:	1 bp
Located at:	α2
Specific Location:	Promoter

Other details

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

In silico pathogenicity prediction

Publications / Origin

Qadah T, Finlayson J, Dennis M, Ghassemifar R, Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2: c.-59C>T], [HBA2: c.-81C>A] and [HBA2: c.-91G>A] reveal varying patterns of transcriptional and translational activities., Pathology , 46(1), 46-52, 2014

Created on 2016-08-23 15:41:43, Last reviewed on 2017-07-31 12:18:46 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-08-23 15:41:43	The IthaGenes Curation Team	Created
2	2017-07-31 11:00:48	The IthaGenes Curation Team	Reviewed. Mutation description and other details modified.
3	2017-07-31 12:18:46	The IthaGenes Curation Team	Reviewed. Mutation description, type, and location modified.

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