IthaID: 1311


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 145 TAT>TAA HGVS Name: HBB:c.438T>A
Hb Name: Hb McKees Rocks Protein Info: β 145(HC2) Tyr-His->0

Context nucleotide sequence:
TGGCTAATGCCCTGGCCCACAAGTA [A/T] CACTAAGCTCGCTTTCTTGCTGTCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKX

Also known as:

External Links

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: 72012
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: Elongated globin
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Winslow RM, Swenberg ML, Gross E, Chervenick PA, Buchman RR, Anderson WF, Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain., The Journal of clinical investigation, 57(3), 772-81, 1976
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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