IthaID: 998



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70904
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African | Japanese | Vietnamese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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. 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 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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