IthaID: 1278


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 139 AAT>GAT HGVS Name: HBB:c.418A>G
Hb Name: Hb Geelong Protein Info: β 139(H17) Asn>Asp

Context nucleotide sequence:
TCAGAAAGTGGTGGCTGGTGTGGCT [A/G/T] ATGCCCTGGCCCACAAGTATCACTA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVADALAHKYH

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71992
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: Polish | Russian | Tatar | Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Como PF, Hocking DR, Swinton GW, Trent RJ, Holland RA, Tibben EA, Wilkinson T, Kronenberg H, Hb Geelong [beta 139(H17)Asn----Asp], Hemoglobin, 15(1), 85-95, 1991
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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