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 |
|---|---|
| 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) |
|---|---|
| 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
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
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:33:01 (Show full history)
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