IthaID: 1035


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 70 GCC>GGC [Ala>Gly] HGVS Name: HBB:c.212C>G
Hb Name: Hb Hershey Protein Info: β 70(E14) Ala>Gly

Context nucleotide sequence:
GCTCATGGCAAGAAAGTGCTCGGTG [A/C/G/T] CTTTAGTGATGGCCTGGCTCACCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGGFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70936
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Hoyer JD, Baxter JK, Moran AM, Kubic KS, Ehmann WC, Two unstable beta chain variants associated with beta-thalassemia: Hb Miami [beta116(G18)his-->Pro], and Hb Hershey [beta70(E14)Ala-->Gly], and a second unstable Hb variant at 170: Hb Abington [beta70(E14)Ala-->Pro]., Hemoglobin , 29(4), 241-8, 2005
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 17:39:00 (Show full history)

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