IthaID: 1052



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 75 CTG>CGG HGVS Name: HBB:c.227T>G
Hb Name: Hb Pasadena Protein Info: β 75(E19) Leu>Arg

Context nucleotide sequence:
GTGCTCGGTGCCTTTAGTGATGGCC [C/G/T] GGCTCACCTGGACAACCTCAAGGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGRAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70951
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Johnson CS, Moyes D, Schroeder WA, Shelton JB, Shelton JR, Beutler E, Hemoglobin Pasadena,alpha 2 beta 275(E19)Leu leads to Arg. Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity., Biochimica et biophysica acta, 623(2), 360-7, 1980 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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