IthaID: 1315


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 146 CAC>CTC HGVS Name: HBB:c.440A>T
Hb Name: Hb Cowtown Protein Info: β 146(HC3) His>Leu

Context nucleotide sequence:
GCTAATGCCCTGGCCCACAAGTATC [A/C/G/T] CTAAGCTCGCTTTCTTGCTGTCCAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYL

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72014
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Schneider RG, Bremner JE, Brimhall B, Jones RT, Shih TB, Hemoglobin Cowtown (beta 146 HC3 His-Leu): a mutant with high oxygen affinity and erythrocytosis., American journal of clinical pathology, 72(6), 1028-32, 1979
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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