IthaID: 3252



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 32 ATG>ATA [Met>Ile] HGVS Name: HBA1:c.99G>A
Hb Name: Hb Amsterdam-A1 Protein Info: N/A

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERIFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Patient presented with microcytic hypochromic phenotype.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37795
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Wang D, Horridge M, Sheen CR, Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene., Hemoglobin , 41(2), 140-143, 2017 PubMed
Created on 2017-08-22 10:03:44, Last reviewed on 2017-08-22 10:08:28 (Show full history)

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