IthaID: 1187

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 113 GTG>GAG [Val>Glu] HGVS Name: HBB:c.341T>A
Hb Name: Hb New York Protein Info: β 113(G15) Val>Glu

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Kaohsiung


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71915
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: American, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Ranney HM, Jacobs AS, Nagel RL, Haemoglobin New York., Nature, 213(5079), 876-8, 1967
  2. Pootrakul S, Wasi S, NaNakorn S, Dixon GH, Double heterozygosity for hemoglobin E and hemoglobin New York in a Thai family., J Med Assoc Thai , 54(10), 688-97, 1971
  3. Todd D, Chan V, Schneider RG, Dozy AM, Kan YW, Chan TK, Globin chain synthesis in haemoglobin New York (beta 113 replaced by glutamic acid)., Br. J. Haematol. , 46(4), 557-64, 1980
  4. Sugihara J, Imamura T, Imoto T, Yanase T, Identification of an abnormal hemoglobin with reduced oxygen affinity by high-performance liquid chromatography., Biochim. Biophys. Acta , 669(1), 105-8, 1981
  5. Zeng YT, Huang SZ, Hemoglobin New York (alpha 2 beta 2 113(G15) Val leads to Glu) in China., Hemoglobin , 6(1), 61-7, 1982
  6. Chang JG, Lee LS, Chen PH, Chen YH, Hb Kaohsiung or New York: a T----A substitution at codon 113 of the beta-globin chain creates an Alu I cutting site., Hemoglobin , 16(1), 123-5, 1992
  7. Viprakasit V, Tachavanich K, Suwantol L, Pung-Amritt P, Chinchang W, Tanphaichitr VS, Allele related mutation specific-polymerase chain reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val-->Glu, beta(CD113 GTG-->GAG))., J Med Assoc Thai , 85(0), S558-63, 2002
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-24 15:09:38 (Show full history)

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