IthaID: 1187
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| 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 |
| Also known as: | Hb Kaohsiung |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTCCTGGGCAACGTGCTGGTCTGTG [A/T] GCTGGCCCATCACTTTGGCAAAGAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCELAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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 |
Location
| 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 |
In silico pathogenicity prediction
Publications / Origin
- Ranney HM, Jacobs AS, Nagel RL, Haemoglobin New York., Nature, 213(5079), 876-8, 1967
- 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
- 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
- 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
- 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
- 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
- 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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