IthaID: 1170


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 108 AAC>GAC HGVS Name: HBB:c.325A>G
Hb Name: Hb Yoshizuka Protein Info: β 108(G10) Asn>Asp

Context nucleotide sequence:
TATCTTCCTCCCACAGCTCCTGGGC [A/C/G] ACGTGCTGGTCTGTGTGCTGGCCCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGDVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: 71899
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: No

In silico pathogenicity prediction

Publications / Origin

  1. Imamura T, Fujita S, Ohta Y, Hanada M, Yanase T, Hemoglobin Yoshizuka (G10(108)beta asparagine--aspartic acid): a new variant with a reduced oxygen affinity from a Japanese family., The Journal of clinical investigation, 48(12), 2341-8, 1969
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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