IthaID: 233


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 109 (-G) >156aa HGVS Name: HBB:c.328delG
Hb Name: Hb Manhattan Protein Info: β 109 (-G); modified C-terminal sequence: (109)Cys-Trp-Ser-Val-Cys-Trp-Pro-Ile-Thr-Leu- Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu- Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu- Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(156)Tyr-COOH

Context nucleotide sequence:
CTTCCTCCCACAGCTCCTGGGCAAC [-/G] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
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: 71902
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Kazazian HH, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG, Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene., Blood, 79(11), 3014-8, 1992
  2. Knott M, Ramadan KM, Savage G, Jones FG, El-Agnaf M, McMullin MF, Percy MJ, Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population., Blood cells, molecules & diseases, 36(2), 265-8, 2006
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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