IthaID: 1354

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 12 AAT>AAA [Asn>Lys] HGVS Name: HBD:c.39T>A
Hb Name: Hb A2-NYU Protein Info: δ 12(A9) Asn>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63221
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Russian, Greek, Dutch, German
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

  1. Vella F, Wong SC, Wilson JB, Huisman TH, Hemoglobins A 2 -Sphakiá and A 2 -NYU in Canada., Canadian journal of biochemistry, 50(7), 841-3, 1972 PubMed
  2. Zur B, Ludwig M, Stoffel-Wagner B, Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin., Biochem Med (Zagreb), 21(3), 321-5, 2011 PubMed
  3. Georgitsi M, Papachatzopoulou A, Linardaki E, Maroulis V, Papadakis MN, Patrinos GP, First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population., Hemoglobin, 35(1), 91-5, 2011 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2022-04-20 14:36:16 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.