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.

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

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)

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