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:
TGATGCTGTTATGGGCAACCCTAAG [C/G] TGAAGGCTCATGGCAAGAAAGTGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKLKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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

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: N/A
Associated Phenotypes: N/A

Location

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

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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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