IthaID: 2303



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 100 CTC>TTC (Leu>Phe) HGVS Name: HBA1:c.301C>T
Hb Name: Hb Weesp Protein Info: α1 100 Leu>Phe

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKFLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: The substitution of the hydrophobic amino acid leucine by the bulkier phenylalanine on the α1-globin chain of Hb Weesp does not result in major changes in expression or functionality. No clinical consequences.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38146
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Silent Hb
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: Netherlands
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK, Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones., Hemoglobin , 2013 PubMed
  2. Bots M, Stroobants AK, Delzenne B, Soeters MR, de Vries JE, Weykamp CW, Norg RJ, Veldthuis M, Zwieten Rv, Two novel haemoglobin variants that affect haemoglobin A1c measurement by ion-exchange chromatography., Clin. Chem. Lab. Med. , 53(9), 1465-71, 2015 PubMed
Created on 2014-01-08 16:37:44, Last reviewed on 2016-08-25 14:52:12 (Show full history)

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