IthaID: 888


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 25 GGT>CGT HGVS Name: HBB:c.76G>C
Hb Name: Hb G-Taiwan-Ami Protein Info: β 25(B7) Gly>Arg

Context nucleotide sequence:
CAAGGTGAACGTGGATGAAGTTGGT [C/G] GTGAGGCCCTGGGCAGGTTGGTATC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGREALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: 70670
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Blackwell RQ, Liu CS, Hemoglobin G Taiwan-Ami: alpha-2-beta-225 Gly--Arg., Biochemical and biophysical research communications, 30(6), 690-6, 1968
Created on 2010-06-16 16:13:16, Last reviewed on 2024-03-07 11:12:48 (Show full history)

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