IthaID: 406



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 119 CCT>TCT [Pro>Ser] HGVS Name: HBA1:c.358C>T
Hb Name: Hb Groene Hart Protein Info: α1 119(H2) Pro>Ser

Context nucleotide sequence:
CGCCCACCTCCCCGCCGAGTTCACC [C/T] CTGCGGTGCACGCCTCCCTGGACAA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTSAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Bemalda P

Comments: Disrupted AHSP binding.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38203
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Thalassaemia
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Moroccan
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
207Hb Groene Hartα1D-10Dual Kit Program79.61.68Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]
210Hb Groene Hartα1VARIANT IIDual Kit Program801.772Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]
208Hb Groene Hartα1VARIANTβ-thal Short Program81.92.46Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]
209Hb Groene Hartα1VARIANT IIβ-thal Short Program82.42.5Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Harteveld CL, van Delft P, Plug R, Versteegh FG, Hagen B, van Rooijen I, Kok PJ, Wajcman H, Kister J, Giordano PC, Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype., Hemoglobin, 26(3), 255-60, 2002 PubMed
  2. Giordano PC, Zweegman S, Akkermans N, Arkesteijn SG, van Delft P, Versteegh FG, Wajcman H, Harteveld CL, The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant., Hemoglobin, 31(2), 179-82, 2007 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-03 16:54:12 (Show full history)

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