IthaID: 1217
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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
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 |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71938 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
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 |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 535 | Hb D-Punjab | β | D-10 | Dual Kit Program | 37.9 | 3.74 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | |
| 486 | Hb D-Punjab | β | D-10 | Dual Kit Program | 81 | 3.74 | [PDF] | ||
| 477 | Hb D-Punjab | β | D-10 | Dual Kit Program | 70.8 | 3.7 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 421 | Hb D-Punjab | β | D-10 | Dual Kit Program | 29 | 3.81 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | |
| 380 | Hb D-Punjab | β | D-10 | Dual Kit Program | 38.1 | 3.78 | heterozygote | [PDF] | |
| 30 | Hb D-Punjab | β | D-10 | HbA1c Program | 41.5 | 1.63 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | |
| 22 | Hb D-Punjab | β | D-10 | HbA1c Program | 41.5 | 1.63 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | |
| 536 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 40.7 | 4 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | |
| 478 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 73.7 | 4.01 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 422 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 28 | 3.99 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | |
| 381 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 37.4 | 4.08 | heterozygote | [PDF] | |
| 215 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 80.7 | 4.05 | Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | |
| 540 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 40 | 3.21 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | |
| 538 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 41 | 4.06 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | |
| 487 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 84.8 | 3.212 | [PDF] | ||
| 480 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 75.4 | 3.191 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 479 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 77.8 | 4.08 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 424 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 30.6 | 3.276 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | |
| 423 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 28.8 | 4.08 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | |
| 383 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 38.5 | 3.233 | heterozygote | [PDF] | |
| 382 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 37.3 | 4.14 | heterozygote | [PDF] | |
| 41 | Hb D-Punjab | β | VARIANT II | Dual Kit Program - HbA1c | 42.2 | 1.83 | Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | |
| 31 | Hb D-Punjab | β | VARIANT II | HbA1c Program | 40 | 1.9 | Heterozygote; Heterozygous; Clinically normal in heterozygotes. Mild anemia in homozygotes. Causes a severe sickle cell disease when associated to HbS. | [PDF] | |
| 23 | Hb D-Punjab | β | VARIANT II | HbA1c Program | 40 | 1.9 | 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
- LEHMANN H, Three varieties of human haemoglobin D., Nature , 182(4639), 852-4, 1958 PubMed
- 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
- STOUT C, HOLLAND CK, BIRD RM, HEMOGLOBIN D IN AN OKLAHOMA FAMILY., Arch. Intern. Med. , 114(0), 296-300, 1964 PubMed
- 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
- 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
- Ozsoylu S, Homozygous hemoglobin D Punjab., Acta Haematol. , 43(6), 353-9, 1970 PubMed
- Imamura T, Riggs A, Identification of hemoglobin Oak ridge with hemoglobin D Punjab (Los Angeles)., Biochem. Genet. , 7(2), 127-30, 1972 PubMed
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-24 15:19:25 | The IthaGenes Curation Team | Reviewed. Added synonyms, references and ClinVar link. |
| 4 | 2016-09-08 17:36:56 | The IthaGenes Curation Team | Reviewed. Reference added. |
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