IthaID: 1131


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 98 GTG>ATG [Val>Met] HGVS Name: HBB:c.295G>A
Hb Name: Hb Köln Protein Info: β 98(FG5) Val>Met

Context nucleotide sequence:
TGAGCTGCACTGTGACAAGCTGCAC [A/G/T] TGGATCCTGAGAACTTCAGGGTGAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHMDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb San Francisco (Pacific) , Hb Ube-1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71019
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Worldwide
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Pribilla W, Klesse P, Betke K, Lehmann H, Beale D, [Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly], Klinische Wochenschrift, 43(19), 1049-53, 1965
  2. Carrell RW, Lehmann H, Hutchison HE, Haemoglobin Köln (beta-98 valine--methionine): an unstable protein causing inclusion-body anaemia., Nature , 210(5039), 915-6, 1966
  3. Ohba Y, Unstable hemoglobins., Hemoglobin , 14(4), 353-88, 1990
  4. Phyliky RL, Fairbanks VF, Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln., Am. J. Hematol. , 55(1), 53, 1997
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-24 16:58:25 (Show full history)

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