IthaID: 499


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 27 GAG>GAC [Glu>Asp] HGVS Name: HBA2:c.84G>C
Hb Name: Hb Hekinan Protein Info: α2 27(B8) Glu>Asp

Context nucleotide sequence:
CGCACGCTGGCGAGTATGGTGCGGA [C/G] GCCCTGGAGAGGTGAGGCTCCCTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGADALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 33859
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, Chinese, Japanese, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Harano T, Harano K, Imai N, Ueda S, Seki M, An electrophoretically silent hemoglobin variant, Hb Hekinan [alpha 27(B8)Glu----Asp] found in a Japanese., Hemoglobin , 12(1), 61-5, 1988
  2. Merault G, Keclard L, Desfontaines L, Saint-Martin C, Blouquit Y, Rosa J, Galacteros F, Hemoglobin Hekinan [alpha (2)27(B8)Glu----Asp beta 2] detected in Guyana., Hemoglobin , 13(4), 397-402, 1989
  3. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
  4. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-05 12:46:58 (Show full history)

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