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

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-01-30 14:27:28, Last reviewed on 2021-02-01 11:53:17 (Show full history)

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