IthaID: 1048



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 74 GGC>GAC HGVS Name: HBB:c.224G>A
Hb Name: Hb Shepherds Bush Protein Info: β 74(E18) Gly>Asp

Context nucleotide sequence:
AAAGTGCTCGGTGCCTTTAGTGATG [A/G/T] CCTGGCTCACCTGGACAACCTCAAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDDLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70948
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: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: English | Sicilian
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. White JM, Brain MC, Lorkin PA, Lehmann H, Smith M, Mild "unstable haemoglobin haemolytic anaemia" caused by haemoglobin Shepherds Bush(B74(E18) gly--asp)., Nature, 225(5236), 939-41, 1970 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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