IthaID: 1068



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 80 AAC>AAA or AAG HGVS Name: HBB:c.243C>A | HBB:c.243C>G
Hb Name: Hb G-Szuhu Protein Info: β 80(EF4) Asn>Lys

Context nucleotide sequence:
GTGATGGCCTGGCTCACCTGGACAA [A/C/G] CTCAAGGGCACCTTTGCCACACTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDKLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Gifu

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70967
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: 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: Chinese | English | Japanese | Jewish | Sicilian | Spanish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
199Hb G-SzuhuβD-10Dual Kit Program32.24.17Clinically normal. Elutes in HbS window. [PDF]
202Hb G-SzuhuβVARIANT IIDual Kit Program3.23.017[PDF]
200Hb G-SzuhuβVARIANTβ-thal Short Program37.74.54Clinically normal. [PDF]
201Hb G-SzuhuβVARIANT IIβ-thal Short Program34.52.13[PDF]

Sequence Viewer

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Publications / Origin

  1. Blackwell RQ, Yang HJ, Wang CC, Hemoglobin G Szuhu: beta80 Asn replaced by Lys., Biochimica et biophysica acta, 188(1), 59-64, 1969 PubMed
  2. Matsutomo K, Miyaji T, Iuchi I, Ueda S, Shibata S, Hb Gifu (beta 80 Asn-Lys), a new slow moving hemoglobin detected from two families of Japanese., Nippon Ketsueki Gakkai Zasshi , 34(4), 479-83, 1971 PubMed
  3. Kaufman S, Leiba H, Clejan L, Wallis K, Lorkin PA, Lehmann H, Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia., Hum. Hered. , 25(1), 60-8, 1975 PubMed
  4. Schillirò G, Russo-Mancuso G, Dibenedetto SP, Samperi P, di Cataldo A, Ragusa R, Testa R, Six rare hemoglobin variants found in Sicily., Hemoglobin, 15(5), 431-7, 1991 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-11 12:01:51 (Show full history)

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