IthaID: 1217



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 121 GAA>CAA [Glu>Gln] HGVS Name: HBB:c.364G>C
Hb Name: Hb D-Punjab Protein Info: β 121(GH4) Glu>Gln

Context nucleotide sequence:
TGTGCTGGCCCATCACTTTGGCAAA [A/C/G/T] AATTCACCCCACCAGTGCAGGCTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKQFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb D-Chicago , Hb D-North Carolina , Hb D-Portugal , Hb D-Los Angeles , Hb Oak Ridge

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71938
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: Australian, Chinese, Dutch, English, Greek, Indian, Pakistani, Turkish, Yugoslavian
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
380Hb D-PunjabβD-10Dual Kit Program38.13.78heterozygote[PDF]
421Hb D-PunjabβD-10Dual Kit Program293.81Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. [PDF]
477Hb D-PunjabβD-10Dual Kit Program70.83.7Double heterozygote Hb D-Punjab and beta-thalassaemia.[PDF]
486Hb D-PunjabβD-10Dual Kit Program813.74[PDF]
535Hb D-PunjabβD-10Dual Kit Program37.93.74Compound heterozygote for HbS and Hb D-Punjab[PDF]
383Hb D-PunjabβVARIANT IIDual Kit Program38.53.233heterozygote[PDF]
424Hb D-PunjabβVARIANT IIDual Kit Program30.63.276Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes.[PDF]
480Hb D-PunjabβVARIANT IIDual Kit Program75.43.191Double heterozygote Hb D-Punjab and beta-thalassaemia. [PDF]
487Hb D-PunjabβVARIANT IIDual Kit Program84.83.212[PDF]
540Hb D-PunjabβVARIANT IIDual Kit Program403.21Compound heterozygote for HbS and Hb D-Punjab[PDF]
215Hb D-PunjabβVARIANTβ-thal Short Program80.74.05Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. [PDF]
381Hb D-PunjabβVARIANTβ-thal Short Program37.44.08heterozygote[PDF]
422Hb D-PunjabβVARIANTβ-thal Short Program283.99Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes.[PDF]
478Hb D-PunjabβVARIANTβ-thal Short Program73.74.01Double heterozygote Hb D-Punjab and beta-thalassaemia. [PDF]
536Hb D-PunjabβVARIANTβ-thal Short Program40.74Compound heterozygote for HbS and Hb D-Punjab.[PDF]
382Hb D-PunjabβVARIANT IIβ-thal Short Program37.34.14heterozygote[PDF]
423Hb D-PunjabβVARIANT IIβ-thal Short Program28.84.08Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes.[PDF]
479Hb D-PunjabβVARIANT IIβ-thal Short Program77.84.08Double heterozygote Hb D-Punjab and beta-thalassaemia. [PDF]
538Hb D-PunjabβVARIANT IIβ-thal Short Program414.06Compound heterozygote for HbS and Hb D-Punjab.[PDF]
41Hb D-PunjabβVARIANT IIDual Kit Program - HbA1c42.21.83Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. [PDF]
22Hb D-PunjabβD-10HbA1c Program41.51.63Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. [PDF]
30Hb D-PunjabβD-10HbA1c Program41.51.63Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. [PDF]
23Hb D-PunjabβVARIANT IIHbA1c Program401.9 Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. [PDF]
31Hb D-PunjabβVARIANT IIHbA1c Program401.9Heterozygote; Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. [PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. LEHMANN H, Three varieties of human haemoglobin D., Nature , 182(4639), 852-4, 1958 PubMed
  2. BOWMAN B, INGRAM VM, Abnormal human haemoglobins. VII. The comparison of normal human haemoglobin and haemoglobin D-Chicago., Biochim. Biophys. Acta , 53(0), 569-73, 1961 PubMed
  3. STOUT C, HOLLAND CK, BIRD RM, HEMOGLOBIN D IN AN OKLAHOMA FAMILY., Arch. Intern. Med. , 114(0), 296-300, 1964 PubMed
  4. Schneider RG, Ueda S, Alperin JB, Levin WC, Jones RT, Brimhall B, Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia., Blood , 32(2), 250-9, 1968 PubMed
  5. Lehmann H, Carrell RW, Variations in the structure of human haemoglobin. With particular reference to the unstable haemoglobins., Br. Med. Bull. , 25(1), 14-23, 1969 PubMed
  6. Ozsoylu S, Homozygous hemoglobin D Punjab., Acta Haematol. , 43(6), 353-9, 1970 PubMed
  7. Imamura T, Riggs A, Identification of hemoglobin Oak ridge with hemoglobin D Punjab (Los Angeles)., Biochem. Genet. , 7(2), 127-30, 1972 PubMed
  8. Bunn HF, Altman AJ, Stangland K, Firshein SI, Forget B, Schmidt GJ, Jones RT, Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family., Hemoglobin , 2(6), 531-40, 1978 PubMed
  9. Worthington S, Lehmann H, The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members., J. Med. Genet. , 22(5), 377-81, 1985 PubMed
  10. Husquinet H, Parent MT, Schoos-Barbette S, Dodinval-Versie J, Lambotte C, Galacteros F, Hemoglobin D-Los Angeles [beta 121(GH4)Glu----Gln] in the Province of Liège, Belgium., Hemoglobin , 10(6), 587-92, 1986 PubMed
  11. Li HJ, Liu DX, Li L, Liu ZG, Lo SL, Zhao J, Han XP, Yu WZ, A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China., Hemoglobin , 10(6), 667-71, 1986 PubMed
  12. Harano T, Harano K, Ueda S, Nakaya K, Hb D Los Angeles [beta 121 Glu----Gln] in Japan., Hemoglobin , 11(2), 177-80, 1987 PubMed
  13. Zeng YT, Huang SZ, Ren ZR, Li HJ, Identification of Hb D-Punjab gene: application of DNA amplification in the study of abnormal hemoglobins., Am. J. Hum. Genet. , 44(6), 886-9, 1989 PubMed
  14. Schnee J, Aulehla-Scholz C, Eigel A, Horst J, Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level., Hum. Genet. , 84(4), 365-7, 1990 PubMed
  15. Fucharoen S, Changtrakun Y, Surapot S, Fucharoen G, Sanchaisuriya K, Molecular characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand., Hemoglobin, 26(3), 261-9, 2002 PubMed
  16. Gupta A, Saraf A, Dass J, Mehta M, Radhakrishnan N, Saxena R, Bhargava M, Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy., Indian J Hematol Blood Transfus , 30(0), 409-12, 2014 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2016-09-08 17:36:56 (Show full history)

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