IthaID: 1005
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 61 AAG>AAC or AAT [Lys>Asn] | HGVS Name: | HBB:c.186G>C | HBB:c.186G>T |
| Hb Name: | Hb Hikari | Protein Info: | β 61(E5) Lys>Asn |
Context nucleotide sequence:
CTGTTATGGGCAACCCTAAGGTGAA [C/G/T] GCTCATGGCAAGAAAGTGCTCGGTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVNAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70910 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 195 | Hb Hikari | β | D-10 | Dual Kit Program | 73.7 | 1.72 | Clinically normal. Elutes in HbA window. | [PDF] | |
| 196 | Hb Hikari | β | VARIANT | β-thal Short Program | 35.3 | 2.04 | Clinically normal. | [PDF] | |
| 197 | Hb Hikari | β | VARIANT II | β-thal Short Program | 34.5 | 2.13 | Clinically normal. | [PDF] | |
| 198 | Hb Hikari | β | VARIANT II | Dual Kit Program | 31.5 | 1.753 | Clinically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- SHIBATA S, MIYAJI T, IUCHI I, UEDA S, TAKEDA I, HEMOGLOBIN HIKARI (ALPHA-2A-BETA-2-61ASPNH2): A FAST-MOVING HEMOGLOBIN FOUND IN TWO UNRELATED JAPANESE FAMILIES., Clin. Chim. Acta , 10(0), 101-5, 1964
- Nakatsuji T, Miwa S, Hattori Y, Ohba Y, Miyaji T, Miyata H, Shinohara T, Matsui Y, A further example of hemoglobin Hikari (beta 61[E5] Lys replaced by Asn)., Hemoglobin, 5(5), 487-92, 1981
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-24 11:46:52 (Show full history)
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