IthaID: 3717

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 61 AAG>-AG	HGVS Name:	HBA1:c.184del
Hb Name:	N/A	Protein Info:	N/A

Context nucleotide sequence:
TCTGCCCAGGTTAAGGGCCACGGCAAG [A/-] AGGTGGCCGACGCGCTGACCAACGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKRWPTRX

Also known as:

Comments: Found in a 34-year old pregnant Malay woman with Hb H disease, presented with Hb 10.2 g/dL, MCH 18 pg, MCV 59.7 fL and RBC 5.7 10^12/L. The woman was compound heterozygote of the novel mutation and the SEA deletion [IthaID: 309]. Hb analysis through CE shows HbA2 1.2 % and HbH 2.3 %. The T deletion, causing a frameshift that introduces a premature stop codon five amino acids further down the new reading frame.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	α-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37880
Size:	1 bp
Located at:	α1
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/A	Contributor(s)	Date	Comments
1	Mohd Yasin, Norafiza	2020-11-24	First report.

Created on 2021-01-30 14:27:28, Last reviewed on 2021-02-01 11:53:17 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-01-30 14:27:28	The IthaGenes Curation Team	Created
2	2021-01-30 15:04:16	The IthaGenes Curation Team	Reviewed. Protein info corrected.
3	2021-02-01 11:53:17	The IthaGenes Curation Team	Reviewed. Protein sequence corrected.

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