IthaID: 3766



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 30 GAG>CAG [Glu>Gln] HGVS Name: HBA2:c.91G>C
Hb Name: Hb G-Honolulu Protein Info: α2 30(B11) Glu>Gln

Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G/C] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALQRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in 5 cases presented with Hb range 12.6- 14.2 g/dL, MCV 76.8-89.6 fL, MCH 26.4-29 pg, and RBC 4.92 10^12/L. Capillary electrophoresis shown normal levels of HbA2 (1.8- 1.9 %) with abnormal peak 23.1-23.5% (at Z6) and 0.6% (at Z1), whereas HPLC analysis shown elevated levels of HbA2 of 19.6-23.4% with small peak at S zone (0.8%). The G>C substitution found in both HBA1 and HBA2 genes.

External Links

No available 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: 33866
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: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Lee TP, Peng CT, Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family., Hemoglobin , 26(3), 325-8, 2002 PubMed
  2. Paleari R, Caruso D, Giavarini F, Colzani C, Brunati P, Mosca A, The first case of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] observed in association with Hb S [β6(A3)Glu→Val, GAG>GTG] in a healthy Italian child., Hemoglobin , 36(1), 73-9, 2012 PubMed
  3. 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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-04-02 11:02:53, Last reviewed on 2021-04-07 10:00:54 (Show full history)

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