IthaID: 496



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 27 GAG>GGG [Glu>Gly] HGVS Name: HBA2:c.83A>G
Hb Name: Hb Fort Worth Protein Info: α2 27(B8) Glu>Gly

Context nucleotide sequence:
GCGCACGCTGGCGAGTATGGTGCGG [A/G] GGCCCTGGAGAGGTGAGGCTCCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAGALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 33858
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Schneider RG, Brimhall B, Jones RT, Bryant R, Mitchell CB, Goldberg AI, Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration., Biochim. Biophys. Acta , 243(2), 164-9, 1971 PubMed
  2. Carstairs KC, Raulfs A, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH, Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada., Hemoglobin , 9(2), 201-5, 1985 PubMed
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 09:52:26 (Show full history)

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