IthaID: 2502



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 51 GGC>CGC [Gly>Arg] HGVS Name: HBA1:c.154G>C
Hb Name: Hb Russ Protein Info: α1 51(CE9) Gly>Arg

Context nucleotide sequence:
CTTCCCGCACTTCGACCTGAGCCAC [C/G] GCTCTGCCCAGGTTAAGGGCCACGG (Strand: +)

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37850
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: American, Caucasian, Chinese
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
137Hb Russα1D-10Dual Kit Program15.34.09Heterozygous. Elutes in HbS window. Clinically normal. [PDF]
140Hb Russα1VARIANT IIDual Kit Program163.483Heterozygous. Elutes in HbS window. Clinically normal.[PDF]
138Hb Russα1VARIANTβ-thal Short Program15.74.18Heterozygous. Elutes in HbS window. Clinically normal.[PDF]
139Hb Russα1VARIANT IIβ-thal Short Program15.14.32Heterozygous. Elutes in HbS window. Clinically normal.[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. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
  2. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 11:04:14, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.