IthaID: 1220



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 121 GAA>GGA HGVS Name: HBB:c.365A>G
Hb Name: Hb St. Francis Protein Info: β 121(GH4) Glu>Gly

Context nucleotide sequence:
GTGCTGGCCCATCACTTTGGCAAAG [A/C/G/T] ATTCACCCCACCAGTGCAGGCTGCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKGFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71939
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: Caucasian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Abourzik NN, Conlon M, Zordon G, Hine TK, Johnson MH, Jue DL, Moo-Penn WF, Hb St. Francis [beta 121(GH4)Glu----Gly]: a new mutation at the same site as Hb D-Los Angeles., Hemoglobin, 15(1), 115-7, 1991 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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