IthaID: 3749
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | CD 74 GAC>GGC [Asp>Gly] | HGVS Name: | HBA2:c224A>G |
Hb Name: | Hb Liangqing | Protein Info: | N/A |
Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACGTGG [A/G] CGACATGCCCAACGCGCTGTCCGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVGDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a newborn female twin. The younger sister presented with Hb 14. g/dL, RBC 3.86×1012/L, MCV 110.4 fL, MCH 36.3 pg and the elder sister with Hb 13.1 g/dL, RBC 3.80×1012/L, MCV 106.3 fL and MCH 34.5 pg. Capillary electrophoresis revealed that HbX and HbA are completely separated on the capillary 2 Flex Piercing device. The cord blood results shown HbX 12.7 %, HbA 18.2 %, HbF 69.1 % and HbX 11.6 %, HbA 20.7 %, HbF 67.7 % from the younger and elder sister respectively.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | 34116 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
A/A | Contributor(s) | Date | Comments |
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1 | Li, Youqiong | 2021-02-24 | First report. |
A/A | Date | Curator(s) | Comments |
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1 | 2021-02-24 17:01:52 | The IthaGenes Curation Team | Created |