IthaID: 998


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 59 AAG>AAC or AAT HGVS Name: HBB:c.180G>C | HBB:c.180G>T
Hb Name: Hb J-Lome Protein Info: β 59(E3) Lys>Asn

Context nucleotide sequence:
CTGATGCTGTTATGGGCAACCCTAA [C/G/T] GTGAAGGCTCATGGCAAGAAAGTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPNVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: 70904
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: African | Japanese | Vietnamese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Amegnizin KP, Pagnier J, Wajcman H, Lapoumeroulie C, Labie D, Hb J Lome beta 59 (E3) Lys is replaced by Asn associated with HPFH in a Togolese family., Hemoglobin, 3(1), 87-91, 1979
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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