IthaID: 1075



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 82 AAG>AGG HGVS Name: HBB:c.248A>G
Hb Name: Hb Taradale Protein Info: β 82(EF6) Lys>Arg

Context nucleotide sequence:
GGCCTGGCTCACCTGGACAACCTCA [A/C/G/T] GGGCACCTTTGCCACACTGAGTGAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLRGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70972
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: American | New Zealand | English
Inheritance: Recessive
DNA Sequence Determined: Yes
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. Wild BJ, Green BN, Cooper EK, Lalloz MR, Erten S, Stephens AD, Layton DM, Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry., Blood cells, molecules & diseases, 27(3), 691-704, 2001 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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