IthaID: 466


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: cd 15 GGT>GAT [Gly>Asp] HGVS Name: HBA1:c.47G>A
Hb Name: Hb I-Interlaken Protein Info: α1 15(A13) Gly>Asp

Context nucleotide sequence:
AAGACCAACGTCAAGGCCGCCTGGG [A/G] TAAGGTCGGCGCGCACGCTGGCGAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWDKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb J-Oxford , Hb N-Cosenza

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37626
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: English, Italian
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
2Hb I-Interlakenα1VARIANTβ-thal Short Program24.91.62Heterozygous[PDF]
3Hb I-Interlakenα1D-10Dual Kit Program24.51.45Heterozygous[PDF]
4Hb I-Interlakenα1VARIANT IIβ-thal Short Program24.81.63Heterozygous[PDF]
5Hb I-Interlakenα1VARIANT IIDual Kit Program24.31.56Heterozygous

In silico pathogenicity prediction

Publications / Origin

  1. Schiliro G, Musumeci S, Pizzarelli G, Russo A, Marinucci M, Bruni E, Russo G, A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia., Blood , 48(5), 639-51, 1976
  2. Schiliro G, Rizzari C, Testa R, Lo Faro F, Comisi FF, Russo A, Association of Hb S [beta 6(A3)Glu----Val] and Hb I-interlaken [alpha 15(A13)Gly----Asp] in a Sicilian man; review of the occurrence of Hb I-interlaken in Sicily., Hemoglobin , 13(4), 403-10, 1989
  3. 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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 16:50:06 (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.