IthaID: 1187



Names and Sequences

Functionality: Globin gene causative mutation
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:
CTCCTGGGCAACGTGCTGGTCTGTG [A/T] GCTGGCCCATCACTTTGGCAAAGAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCELAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Kaohsiung

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: American, Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ranney HM, Jacobs AS, Nagel RL, Haemoglobin New York., Nature, 213(5079), 876-8, 1967 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-24 15:09:38 (Show full history)

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