IthaID: 3713
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 11 AAG>ACG [Lys>Thr] | HGVS Name: | HBA2:c.35A>C |
Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGTCTCCTGCCGACAAGACCAACGTCA [A>C] GGCCGCCTGGGGTAAGGTCGGCGCGC (Strand: +)
Protein sequence:
MVLSPADKTNVTAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported in 1 case presented with Hb 14.7 g/dL and normal levels of MCV and MCH Hb analyses revealed HbA2 1.8 % and an abnormal peak of 27 %.
External Links
No available 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: | 33810 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | N/A |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |
Created on 2021-01-30 13:58:49,
Last reviewed on 2021-02-01 11:40:11 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-01-30 13:58:49 | The IthaGenes Curation Team | Created |
2 | 2021-01-30 14:00:55 | The IthaGenes Curation Team | Reviewed. Comment corrected. |
3 | 2021-02-01 11:40:11 | The IthaGenes Curation Team | Reviewed. Protein sequence added. |
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IthaGenes was last updated on 2021-03-05 12:55:33