IthaID: 1356



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 16 GGC>CGC HGVS Name: HBD:c.49G>C
Hb Name: Hb A2' or Hb B2 Protein Info: δ 16(A13) Gly>Arg

Context nucleotide sequence:
GAAGACTGCTGTCAATGCCCTGTGG [C/G] GCAAAGTGAACGTGGATGCAGTTGG (Strand: -)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63231
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: African
Inheritance: Recessive
DNA Sequence Determined: Yes
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
552Hb A2' or Hb B2δD-10Dual Kit Program1.54.19[PDF]
555Hb A2' or Hb B2δVARIANT IIDual Kit Program0.83.62Homozygous.[PDF]
553Hb A2' or Hb B2δVARIANTβ-thal Short Program1.54.47[PDF]
554Hb A2' or Hb B2δVARIANT IIβ-thal Short Program4.550.9Homozygous.[PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Codrington JF, Li HW, Kutlar F, Gu LH, Ramachandran M, Huisman TH, Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant., Blood, 76(6), 1246-9, 1990 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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