IthaID: 1222



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 122 TTC>CTC or TTG or TTA HGVS Name: HBB:c.367T>C | HBB:c.369C>A | HBB:c.369C>G
Hb Name: Hb Bushey Protein Info: β 122(GH 5) Phe>Leu

Context nucleotide sequence:
GCTGGCCCATCACTTTGGCAAAGAA [A/C/G/T] TCACCCCACCAGTGCAGGCTGCCTA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKELTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71941
Size: 1 bp
Located at: β
Specific Location: Exon 3

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: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Drupt F, Henthorn JS, Kister J, Prehu C, Riou J, Promé D, Galactéros F, Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe-->Leu] and Hb Casablanca [beta65(E9)lys-->Met; beta122(GH5)Phe-->Leu]., Hemoglobin, 24(2), 125-32, 2000 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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