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:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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)

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