IthaID: 1069


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 81 CTC>CGC HGVS Name: HBB:c.245T>G
Hb Name: Hb Baylor Protein Info: β 81(EF5) Leu>Arg

Context nucleotide sequence:
GATGGCCTGGCTCACCTGGACAACC [A/G/T] CAAGGGCACCTTTGCCACACTGAGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNRKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70969
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: Irish | Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Schneider RG, Hettig RA, Bilunos M, Brimhall B, Hemoglobin Baylor (alpha2beta281(EF5) leu replaced by Arg)--an unstable mutant with high oxygen affinity., Hemoglobin, 1(1), 85-96, 1976
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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