IthaID: 606


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 74 GAC>AAC [Asp>Asn] HGVS Name: HBA2:c.223G>A
Hb Name: Hb G-Pest Protein Info: α2 74(EF3) Asp>Asn

Context nucleotide sequence:
GCTGACCAACGCCGTGGCGCACGTG [G/A] ACGACATGCCCAACGCGCTGTCCGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVNDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34115
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Hollán SR, Szelenyi JG, Brimhall G, Duerst M, Jones RT, Koler RD, Stocklen Z, Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest., Nature , 235(5332), 47-50, 1972
  2. Wenning MR, Kimura EM, Jorge SB, Costa FF, Sonati MF, Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp]., Acta Haematol. , 102(4), 203-5, 1999
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-31 21:37:48 (Show full history)

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