IthaID: 1213


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 120 AAA>GAA HGVS Name: HBB:c.361A>G
Hb Name: Hb Hijiyama Protein Info: β 120(GH3) Lys>Glu

Context nucleotide sequence:
CTGTGTGCTGGCCCATCACTTTGGC [A/C/G] AAGAATTCACCCCACCAGTGCAGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGEEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71935
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Finnish | Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Miyaji T, Oba Y, Yamamoto K, Shibata S, Iuchi I, Hamilton HB, Hemoglobin Hijiyama: a new fast-moving hemoglobin in a Japanese family., Science (New York, N.Y.), 159(811), 204-6, 1968
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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