IthaID: 193


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 91 CTG>C-G HGVS Name: HBB:c.275del
Hb Name: Hb Morgantown Protein Info: β 91 (-T); modified C-terminal sequence

Context nucleotide sequence:
GGCACCTTTGCCACACTGAGTGAGC [-/T] GCACTGTGACAAGCTGCACGTGGAT (Strand: -)

Also known as:

Comments: Hb Morgantown, causes a frame shift in the coding DNA sequence and results in a variant beta-globin chain with 156 amino acid residues before it is terminated by an in frame TAA termination codon. The amino acids from codon 91 till the carboxyl-end are entirely different from those of a normal beta-globin chain, which has 146 amino acids.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70999
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Irish
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

Publications / Origin

  1. Luo HY, Tang W, Eung SH, Coad JE, Canfield P, Keller F, Crowell EH, Steinberg MH, Chui DH, Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG)., Journal of clinical pathology, 58(10), 1110-2, 2005
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 13:05:43 (Show full history)

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