IthaID: 1162


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 104 AGG>AGC or AGT HGVS Name: HBB:c.315G>C | HBB:c.315G>T
Hb Name: Hb Camperdown Protein Info: β 104(G6) Arg>Ser

Context nucleotide sequence:
TGCACGTGGATCCTGAGAACTTCAG [C/G/T] GTGAGTCTATGGGACGCTTGATGTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFSLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71039
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Maltese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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
449Hb CamperdownβVARIANTβ-thal Short Program45.91.29Hb variant is mildly unstable. [PDF]
450Hb CamperdownβVARIANT IIβ-thal Short Program43.11.34Hb variant is mildly unstable. [PDF]
451Hb CamperdownβVARIANT IIDual Kit Program45.50.958Hb variant is mildly unstable. [PDF]
563Hb CamperdownβD-10Dual Kit Program46.70.68Mildly unstable. [PDF]

Publications / Origin

  1. Wilkinson T, Chua CG, Carrell RW, Robin H, Exner T, Lee KM, Kronenberg H, Haemoglobin Camperdown beta104(G6) arginine leads to serine., Biochimica et biophysica acta, 393(1), 195-200, 1975
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-11 16:27:57 (Show full history)

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