IthaID: 738

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 126 GAC>CAC [Asp>His] HGVS Name: HBA1:c.379G>C
Hb Name: Hb Sassari Protein Info: α1 126(H9) Asp>His

Context nucleotide sequence:

Protein sequence:

Also known as:


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38224
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Sardinian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Masala B, Manca L, Stangoni A, Cuccuru GB, Wilson JB, Webber BB, Kutlar A, Huisman TH, Hb Sassari or alpha (2)126(H9)Asp---His beta 2 observed in a family from Northern Sardinia., Hemoglobin , 11(4), 373-8, 1987
  2. Paglietti E, Barella S, Satta S, Perra C, Cao A, Galanello R, Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene., Hemoglobin , 22(1), 65-7, 1998
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 09:19:46 (Show full history)

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