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.
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- 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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-10 09:04:49 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-06-20 15:50:25 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07