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

Context nucleotide sequence:
CTCCTGGGCAACGTGCTGGTCTGTG [A/T] GCTGGCCCATCACTTTGGCAAAGAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCELAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Kaohsiung

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM
LOVD

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Ranney HM, Jacobs AS, Nagel RL, Haemoglobin New York., Nature, 213(5079), 876-8, 1967 PubMed
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
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
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
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
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
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)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-24 15:09:38	The IthaGenes Curation Team	Reviewed. Added protein info, ClinVar link and additional references.

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