IthaID: 503



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 30 GAG>AAG [Glu>Lys] HGVS Name: HBA1:c.91G>A | HBA2:c.91G>A
Hb Name: Hb O-Padova Protein Info: α2 or α1 30(B11) Glu>Lys

Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [A/C/G] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALKRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33866 or 37670
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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: Italian, Turkish
Inheritance: Recessive
DNA Sequence Determined: No
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
305Hb O-Padovaα1 or α2D-10Dual Kit Program14.24.42Heterozygote, clinically normal. [PDF]
308Hb O-Padovaα1 or α2VARIANT IIDual Kit Program14.53.93Heterozygote. Clinically normal.[PDF]
306Hb O-Padovaα1 or α2VARIANTβ-thal Short Program15.34.73Heterozygote. Clinically normal. [PDF]
307Hb O-Padovaα1 or α2VARIANT IIβ-thal Short Program16.74.79Heterozygote. Clinically normal.[PDF]

Sequence Viewer

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Publications / Origin

  1. Vettore L, De Sandre G, Di Iorio EE, Winterhalter KH, Lang A, Lehmann H, A new abnormal hemoglobin O Padova, alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient., Blood , 44(6), 869-77, 1974 PubMed
  2. Barbui T, Capaldi A, Trento M, Rabino-Massa E, Decrescenzo A, Modica A, Rege-Cambrin G, Ricco G, Association between Hb O Padova [alpha 30 (B 11) Glu leads to Lys] and Rendu-Osler disease., Panminerva Med , 25(1), 31-5, 1983 PubMed
  3. Kilinç Y, Kumi M, Gurgey A, Altay C, Webber BB, Wilson JB, Kutlar A, Huisman TH, Hemoglobin O-Padova or alpha(2)30(B11)Glu----Lys beta 2 observed in members of a Turkish family., Hemoglobin , 9(6), 621-5, 1985 PubMed
  4. Martín G, Villegas A, Calero F, del Palacio S, López JC, López M, Espinós D, Hb O Padova in a Spanish Family., Acta Haematol. , 84(1), 1-4, 1990 PubMed
  5. Schnedl WJ, Reisinger EC, Katzensteiner S, Lipp RW, Schreiber F, Hopmeier P, Krejs GJ, Haemoglobin O Padova and falsely low haemoglobin A1c in a patient with type I diabetes., J. Clin. Pathol. , 50(5), 434-5, 1997 PubMed
  6. Schnedl WJ, Krause R, Halwachs-Baumann G, Trinker M, Lipp RW, Krejs GJ, Evaluation of HbA1c determination methods in patients with hemoglobinopathies., Diabetes Care , 23(3), 339-44, 2000 PubMed
  7. Lahousen T, Roller RE, Lipp RW, Schnedl WJ, Silent haemoglobin variants and determination of HbA(1c) with the HPLC Bio-Rad Variant II., J. Clin. Pathol. , 55(9), 699-703, 2002 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 13:07:19 (Show full history)

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