IthaID: 456
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 9 AAC>AAG or AAA [Asn>Lys] | HGVS Name: | HBA1:c.30C>G | HBA1:c.30C>A |
| Hb Name: | Hb Delfzicht | Protein Info: | α1 9(A7) Asn>Lys |
Context nucleotide sequence:
TGCTGTCTCCTGCCGACAAGACCAA [C/G/A] GTCAAGGCCGCCTGGGGTAAGGTCG (Strand: +)
Protein sequence:
MVLSPADKTKVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | 37609 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Van Delft P, Plug RJ, Erjavec Z, Wajcman H, Giordano PC, Hb delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient., Hemoglobin , 26(2), 181-4, 2002
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-11-03 15:33:28 (Show full history)
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