IthaID: 77



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 17 AAG>TAG [Lys>STOP] HGVS Name: HBB:c.52A>T
Hb Name: N/A Protein Info: β 17(A14) Lys>Stop

Context nucleotide sequence:
GTCTGCCGTTACTGCCCTGTGGGGC [A/T] AGGTGAACGTGGATGAAGTTGGTGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGX

Also known as:

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70646
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Chinese, Japanese, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Frequencies

Publications / Origin

  1. Chang JC, Kan YW, beta 0 thalassemia, a nonsense mutation in man., Proceedings of the National Academy of Sciences of the United States of America, 76(6), 2886-9, 1979 PubMed
  2. Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H, beta-thalassemia mutations in Japanese and Koreans., Hemoglobin, 21(2), 191-200, 1997 PubMed
  3. Turbpaiboon C, Svasti S, Sawangareetakul P, Winichagoon P, Srisomsap C, Siritanaratkul N, Fucharoen S, Wilairat P, Svasti J, Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect., Hemoglobin , 26(1), 77-81, 2002 PubMed
  4. Xie J, Zhou Y, Xiao Q, Long R, Li L, Li L, Rare double heterozygosity for poly A(A〉 G) and CD17(A〉 T) of beta thalassemia intermedia in a Chinese family., Hematol Rep, 11(3), 7911, 2019 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2021-03-11 18:51:37 (Show full history)

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