IthaID: 1250



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 130 TAT>TCT HGVS Name: HBB:c.392A>C
Hb Name: Hb Nevers Protein Info: β 130(H8) Tyr>Ser

Context nucleotide sequence:
TTCACCCCACCAGTGCAGGCTGCCT [A/C] TCAGAAAGTGGTGGCTGGTGTGGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAASQKVVAGVANALAHKYH

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: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71966
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: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kéclard L, Campier A, Mérault G, Aupérin A, Riou J, Rosa J, Galactéros F, Hemoglobin Nevers [alpha 2 beta 2130(H8)Tyr----Ser]; a new silent variant found in France., Hemoglobin, 14(1), 103-7, 1990 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-03-21 10:44:17 (Show full history)

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