IthaID: 458
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
---|---|---|---|
Common Name: | CD 11 AAG>CAG [Lys>Gln] | HGVS Name: | HBA2:c.34A>C |
Hb Name: | Hb J-Wenchang-Wuming | Protein Info: | α2 11(A9) Lys>Gln |
Context nucleotide sequence:
GTCTCCTGCCGACAAGACCAACGTC [A/C] AGGCCGCCTGGGGTAAGGTCGGCGC (Strand: +)
Protein sequence:
MVLSPADKTNVQAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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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: | 33809 |
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: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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.
Sequence Viewer
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Publications / Origin
- Zeng YT, Huang SZ, Xu L, Long GF, Lam H, Wilson JB, Huisman TH, Hb Wuming or alpha 2 11(A9)Lys substituting for Gln beta 2., Hemoglobin , 5(7), 679-87, 1981 PubMed
- Svasti J, Surarit R, Srisomsap C, Pravatmuang P, Wasi P, Fucharoen S, Blouquit Y, Galacteros F, Rosa J, Identification of Hb Anantharaj [alpha 11(A9)Lys->Glu] as Hb J-Wenchang-Wuming [alpha 11(A9)Lys->Gln]., Hemoglobin , 17(5), 453-5, 1993 PubMed
- Wang WC, Carter H, Choitz HC, Hall R, Hine TK, Jue DL, Moo-Penn WF, Characterization of Hb Volga [beta 27(B9)Ala-->Asp] and Hb J-Wenchang-Wuming [alpha 11(A9)Lys-->Gln] in the population of the United States., Hemoglobin , 17(1), 67-71, 1993 PubMed
- Qualtieri A, De Marco EV, Crescibene L, Andreoli V, Bagalà A, Scornalenchi M, Brancatl C, Greco CM, Hb J-Wenchang-Wuming or alpha 11(A9)Lys-->Gln in an Italian woman., Hemoglobin , 19(5), 277-80, 1995 PubMed
- Zhai YS, Tang HS, Li DZ, Hb J-Wenchang-Wuming [α11(A9)Lys→Gln (AAG>CAG) (α2 or α1)] compromises neonatal screening for α-thalassemia with the Sebia Capillarys2 electrophoresis system., Hemoglobin, 36(4), 395-8, 2012 PubMed
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:33:01 (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 16:16:26 | The IthaGenes Curation Team | Reviewed. |
3 | 2021-04-07 09:33:01 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. References added. |
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IthaGenes was last updated on 2024-09-28 12:00:32