IthaID: 948



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 42 TTT>GTT HGVS Name: HBB:c.127T>G
Hb Name: Hb Sendagi Protein Info: β 42(CD1) Phe>Val

Context nucleotide sequence:
GGTCTACCCTTGGACCCAGAGGTTC [C/G/T] TTGAGTCCTTTGGGGATCTGTCCAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFVESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Warsaw

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70851
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Japanese | Polish
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Ogata K, Ito T, Okazaki T, Dan K, Nomura T, Nozawa Y, Kajita A, Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of the beta-chain., Hemoglobin, 10(5), 469-81, 1986 PubMed
  2. Honig GR, Telfer MC, Rosenblum BB, Vida LN, Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression., Am. J. Hematol., 32(1), 36-41, 1989 PubMed
  3. Honig GR, Vida LN, Rosenblum BB, Perutz MF, Fermi G, Hemoglobin Warsaw (Phe beta 42(CD1)----Val), an unstable variant with decreased oxygen affinity. Characterization of its synthesis, functional properties, and structure., J. Biol. Chem., 265(1), 126-32, 1990 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-02-24 09:32:57 (Show full history)

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