IthaID: 1215


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 120 AAA>ATA HGVS Name: HBB:c.362A>T
Hb Name: Hb Jianghua Protein Info: β 120(GH3) Lys>Ile

Context nucleotide sequence:
TGTGTGCTGGCCCATCACTTTGGCA [A/T] AGAATTCACCCCACCAGTGCAGGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGIEFTPPVQAAYQKVVAGVANALAHKYH

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: 71936
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: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Lu YQ, Fan JL, Liu JF, Hu HL, Peng XH, Huang CH, Huang PY, Chen SS, Jai PC, Yang KG, Hemoglobin Jianghua [beta 120(GH3) LYS leads to ILE]: a new fast-moving variant found in China., Hemoglobin, 7(4), 321-6, 1983
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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