IthaID: 1097


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 90 GAG>AAG HGVS Name: HBB:c.271G>A
Hb Name: Hb Agenogi Protein Info: β 90(F6) Glu>Lys

Context nucleotide sequence:
CAAGGGCACCTTTGCCACACTGAGT [A/G/T] AGCTGCACTGTGACAAGCTGCACGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSKLHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Associated with normal clinical presentation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70995
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African-American, Hungarian, Italian, Japanese, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Imai K, Morimoto H, Kotani M, Shibata S, Miyaji T, Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi., Biochimica et biophysica acta, 200(2), 197-202, 1970
  2. Colah RB, Nadkarni A, Gorakshakar A, Sawant P, Gorivale M, Mehta P, Sawant M, Ghosh K, Five Rare β Globin Chain Hemoglobin Variants in India., Indian J Hematol Blood Transfus , 32(0), 282-6, 2016
Created on 2010-06-16 16:13:16, Last reviewed on 2016-09-06 15:28:42 (Show full history)

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