IthaID: 1251



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 131 CAG>GAG HGVS Name: HBB:c.394C>G
Hb Name: Hb Camden Protein Info: β 131(H9) Gln>Glu

Context nucleotide sequence:
CACCCCACCAGTGCAGGCTGCCTAT [A/C/G] AGAAAGTGGTGGCTGGTGTGGCTAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYEKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71968
Size: 1 bp
Located at: β
Specific Location: Exon 3

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: African | 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
61Hb CamdenβD-10Dual Kit Program50.10.75Clinically normal. Elutes near, or at the position of Hb A1c.[PDF]
63Hb CamdenβVARIANT IIDual Kit Program50.30.87Clinically normal. Elutes near, or at the position of Hb A1c.[PDF]
62Hb CamdenβVARIANT IIβ-thal Short Program44.51.36Clinically normal. Elutes near, or at the position of Hb A1c.[PDF]

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Cohen PT, Yates A, Bellingham AJ, Huehns ER, Letter: Amino-acid substitution in the alpha 1 beta 1 intersubunit contact of haemoglobin-Camden beta 131 (h9) g1n leads to g1u., Nature, 243(5408), 467-8, 1973 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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