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

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

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)

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