IthaID: 848


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 13 GCC>GAC HGVS Name: HBB:c.41C>A
Hb Name: Hb J-Lens Protein Info: β 13(A10) Ala>Asp

Context nucleotide sequence:
CCTGAGGAGAAGTCTGCCGTTACTG [A/C] CCTGTGGGGCAAGGTGAACGTGGAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTDLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: 70635
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: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Djoumessi S, Rousseaux J, Dautrevaux M, Structural studies of a new hemoglobin: HbJ lens, beta 13(A10) Ala leads to Asp., FEBS letters, 136(1), 145-7, 1981
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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