IthaID: 3030


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 30 GAG>TAG HGVS Name: HBA1:c.91G>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G>T] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALX

Also known as:

Comments: Patient presented with hypochromic haemolytic anaemia.

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:α⁺
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37670
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, Rad F, Imanian H, Azarkeivan A, Najmabadi H, Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene., Hemoglobin , 40(1), 38-43, 2016
Created on 2016-08-26 12:49:12, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.