IthaID: 874



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 22 GAA>AAA HGVS Name: HBB:c.67G>A
Hb Name: Hb E-Saskatoon Protein Info: β 22(B4) Glu>Lys

Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGAT [A/C/G/T] AAGTTGGTGGTGAGGCCCTGGGCAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDKVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70661
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Greek, Japanese, Scottish, Turkish, Brazilian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Tills D, Muir V, Warlow A, Hopkinson DA, Lorkin PA, El-Hazmi MA, Lehmann H, The occurrence of Hb E Saskatoon in Scotland., Human genetics, 33(2), 179-80, 1976 PubMed
  2. Igarashi Y, Matsuzaki S, Kanou N, Inami S, Nakamura T, Kasai K, Fushitani K, The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia., Hemoglobin, 19(6), 403-6, 1995 PubMed
  3. Birben E, Oner R, Oner C, Gümrük F, Gürgey A, Altay C, Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient., Hemoglobin, 25(4), 409-15, 2001 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-11-17 08:15:10 (Show full history)

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