IthaID: 461
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
---|---|---|---|
Common Name: | CD 12 GCC>GAC [Ala>Asp] | HGVS Name: | HBA2:c.38C>A |
Hb Name: | Hb J-Paris-I | Protein Info: | α2 12(A10) Ala>Asp |
Context nucleotide sequence:
CCTGCCGACAAGACCAACGTCAAGG [A/C] CGCCTGGGGTAAGGTCGGCGCGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKDAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb J-Aljezur
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 37617 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Iranian, Portuguese, Punjabi, Spanish, Yugoslavian, Pakistani, Indian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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 | ||
---|---|---|---|---|---|---|---|---|---|
296 | Hb J-Paris-I | α2 | VARIANT II | Dual Kit Program | 35 | 0.55 | Heterozygote. Elutes together with HbF. | [PDF] |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Publications / Origin
- Trincao C, De Melo JM, Lorkin PA, Lehmann H, Haemoglobin J Paris in the south of Portugal (Algarve)., Acta Haematol. , 39(5), 291-8, 1968
- Niazi GA, Efremov GD, Nikolov N, Hunter E, Huisman TH, Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population)., Biochim. Biophys. Acta , 412(1), 181-6, 1975
- Dash S, Huisman TH, First observation of hemoglobin J Paris I [alpha-2-12(A10)alanine-aspartic acid beta-2] in the Indian subcontinent., Acta Haematol. , 79(2), 117, 1988
- 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
- Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-01-31 09:45:00 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2014-03-12 16:38:03 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-06-05 10:13:14 | The IthaGenes Curation Team | Reviewed. Location corrected. Reference added. |
4 | 2020-01-31 09:45:00 | The IthaGenes Curation Team | Reviewed. Edit |
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IthaGenes was last updated on 2024-11-20 13:24:07