IthaID: 458

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 11 AAG>CAG [Lys>Gln] HGVS Name: HBA1:c.34A>C | HBA2:c.34A>C
Hb Name: Hb J-Wenchang-Wuming Protein Info: α2 or α1 11(A9) Lys>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33809 or 37613
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Chinese
Inheritance: Recessive
DNA Sequence Determined: No

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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 16:16:26 (Show full history)

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