IthaID: 999

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 60 GTG>CTG [Val>Leu] HGVS Name: HBB:c.181G>C
Hb Name: Hb Yatsushiro Protein Info: β 60(E4) Val>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: β60 Val>Leu (both hydrophobic amino acids) results in a moderately unstable β variant and clinically silent phenotype.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70905
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kagimoto T, Morino Y, Kishimoto S, A new hemoglobin variant. HB Yatsushiro alpha 2 A beta 2 60 Val replaced by Leu., Biochimica et biophysica acta, 532(1), 195-8, 1978 PubMed
  2. Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 14:15:34 (Show full history)

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