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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 380 | Hb D-Punjab | β | D-10 | Dual Kit Program | 38.1 | 3.78 | heterozygote | [PDF] | |
| 421 | Hb D-Punjab | β | D-10 | Dual Kit Program | 29 | 3.81 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | |
| 477 | Hb D-Punjab | β | D-10 | Dual Kit Program | 70.8 | 3.7 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 486 | Hb D-Punjab | β | D-10 | Dual Kit Program | 81 | 3.74 | [PDF] | ||
| 535 | Hb D-Punjab | β | D-10 | Dual Kit Program | 37.9 | 3.74 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | |
| 383 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 38.5 | 3.233 | heterozygote | [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] | |
| 480 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 75.4 | 3.191 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 487 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 84.8 | 3.212 | [PDF] | ||
| 540 | Hb D-Punjab | β | VARIANT II | Dual Kit Program | 40 | 3.21 | Compound heterozygote for HbS and Hb D-Punjab | [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] | |
| 381 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 37.4 | 4.08 | heterozygote | [PDF] | |
| 422 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 28 | 3.99 | Heterozygous. Clinically normal in heterozygotes. Mild anemia in homozygotes. | [PDF] | |
| 478 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 73.7 | 4.01 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 536 | Hb D-Punjab | β | VARIANT | β-thal Short Program | 40.7 | 4 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | |
| 382 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 37.3 | 4.14 | heterozygote | [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] | |
| 479 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 77.8 | 4.08 | Double heterozygote Hb D-Punjab and beta-thalassaemia. | [PDF] | |
| 538 | Hb D-Punjab | β | VARIANT II | β-thal Short Program | 41 | 4.06 | Compound heterozygote for HbS and Hb D-Punjab. | [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] | |
| 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] | |
| 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] | |
| 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] | |
| 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] |
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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. |
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.
IthaGenes was last updated on 2019-05-17 14:15:22