IthaID: 458


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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:

External Links

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

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

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