IthaID: 1005



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 61 AAG>AAC or AAT [Lys>Asn] HGVS Name: HBB:c.186G>C | HBB:c.186G>T
Hb Name: Hb Hikari Protein Info: β 61(E5) Lys>Asn

Context nucleotide sequence:
CTGTTATGGGCAACCCTAAGGTGAA [C/G/T] GCTCATGGCAAGAAAGTGCTCGGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVNAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70910
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: Missense codons (Protein Structure)
Ethnic Origin: Japanese
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
195Hb HikariβD-10Dual Kit Program73.71.72Clinically normal. Elutes in HbA window. [PDF]
198Hb HikariβVARIANT IIDual Kit Program31.51.753Clinically normal. [PDF]
196Hb HikariβVARIANTβ-thal Short Program35.32.04Clinically normal. [PDF]
197Hb HikariβVARIANT IIβ-thal Short Program34.52.13Clinically normal. [PDF]

Sequence Viewer

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Publications / Origin

  1. SHIBATA S, MIYAJI T, IUCHI I, UEDA S, TAKEDA I, HEMOGLOBIN HIKARI (ALPHA-2A-BETA-2-61ASPNH2): A FAST-MOVING HEMOGLOBIN FOUND IN TWO UNRELATED JAPANESE FAMILIES., Clin. Chim. Acta , 10(0), 101-5, 1964 PubMed
  2. Nakatsuji T, Miwa S, Hattori Y, Ohba Y, Miyaji T, Miyata H, Shinohara T, Matsui Y, A further example of hemoglobin Hikari (beta 61[E5] Lys replaced by Asn)., Hemoglobin, 5(5), 487-92, 1981 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-24 11:46:52 (Show full history)

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