IthaID: 1280


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 139 AAT>ACT HGVS Name: HBB:c.419A>C
Hb Name: Hb Sagami Protein Info: β 139(H17) Asn>Thr

Context nucleotide sequence:
CAGAAAGTGGTGGCTGGTGTGGCTA [A/C] TGCCCTGGCCCACAAGTATCACTAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVATALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71993
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: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Miyazaki A, Nakanishi T, Kishikawa M, Nakagawa T, Shimizu A, Mawjood AH, Imai K, Aoki Y, Kikuchi M, Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr]., Hemoglobin, 23(3), 267-71, 1999
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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