IthaID: 851



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 15 TGG>GGG HGVS Name: HBB:c.46T>G
Hb Name: Hb Randwick Protein Info: β 15(A12) Trp>Gly

Context nucleotide sequence:
GGAGAAGTCTGCCGTTACTGCCCTG [A/C/G/T] GGGGCAAGGTGAACGTGGATGAAGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALGGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70640
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Italian
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
452Hb RandwickβD-10Dual Kit Program81.41.69Elutes with HbA. Mildly unstable. [PDF]
493Hb RandwickβD-10Dual Kit Program52.41.82Double heterozygote for Hb Randwick and beta-thalassaemia. [PDF]
235Hb RandwickβVARIANT IIDual Kit Program61.22.98Double heterozygote (Hb Randwick with Beta thalassemia). It elutes in the position of HbA0 in all the systems except in the VARIANT II Dual Beta Thal program where it co-elutes with HbA2. Its association with a beta thal is extremely rare and explains both the anaemia and an increased HbF and HbA2 and if it is a beta 0 thal all the fraction eluting at the position of HbA0 is the variant.[PDF]
455Hb RandwickβVARIANT IIDual Kit Program2.92.995Elutes with HbA2. Mildly unstable. [PDF]
453Hb RandwickβVARIANTβ-thal Short Program82.62.38Elutes with HbA. Mildly unstable. [PDF]
494Hb RandwickβVARIANTβ-thal Short Program67.72.64Double heterozygote for Hb Randwick and beta-thalassaemia. [PDF]
454Hb RandwickβVARIANT IIβ-thal Short Program81.82.41Elutes with HbA. Mildly unstable. [PDF]
495Hb RandwickβVARIANT IIβ-thal Short Program66.82.66Double heterozygote for Hb Randwick and beta-thalassaemia. [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. Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Ip F, Kwan YL, Holland RA, Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant., Hemoglobin, 12(2), 149-61, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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