IthaID: 602



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 72 CAC>GAC [His>Asp] HGVS Name: HBA2:c.217C>G
Hb Name: Hb Norton Protein Info: α2 72(EF1) His>Asp

Context nucleotide sequence:
CGACGCGCTGACCAACGCCGTGGCG [C/G/T] ACGTGGACGACATGCCCAACGCGCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVADVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: The site of the mutation is external; it is neither an heme nor an α/β contact. It is expected to be silent. Stable to heat and isopropanol. Discovered in a hematologically normal Caucasian individual.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34109
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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. Hoyer JD, McCormick DJ, Snow K, Kwon JH, Booth D, Duarte M, Grayson G, Kubik KS, Holmes MW, Fairbanks VF, Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)]., Hemoglobin , 26(2), 175-9, 2002 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-20 15:50:25 (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.