IthaID: 1068
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
---|---|---|---|
Common Name: | CD 80 AAC>AAA or AAG | HGVS Name: | HBB:c.243C>A | HBB:c.243C>G |
Hb Name: | Hb G-Szuhu | Protein Info: | β 80(EF4) Asn>Lys |
Context nucleotide sequence:
GTGATGGCCTGGCTCACCTGGACAA [A/C/G] CTCAAGGGCACCTTTGCCACACTGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDKLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Gifu
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: | 70967 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Chinese | English | Japanese | Jewish | Sicilian | Spanish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
---|---|---|---|---|---|---|---|---|---|
199 | Hb G-Szuhu | β | D-10 | Dual Kit Program | 32.2 | 4.17 | Clinically normal. Elutes in HbS window. | [PDF] | |
200 | Hb G-Szuhu | β | VARIANT | β-thal Short Program | 37.7 | 4.54 | Clinically normal. | [PDF] | |
201 | Hb G-Szuhu | β | VARIANT II | β-thal Short Program | 34.5 | 2.13 | [PDF] | ||
202 | Hb G-Szuhu | β | VARIANT II | Dual Kit Program | 3.2 | 3.017 | [PDF] |
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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Blackwell RQ, Yang HJ, Wang CC, Hemoglobin G Szuhu: beta80 Asn replaced by Lys., Biochimica et biophysica acta, 188(1), 59-64, 1969 PubMed
- Matsutomo K, Miyaji T, Iuchi I, Ueda S, Shibata S, Hb Gifu (beta 80 Asn-Lys), a new slow moving hemoglobin detected from two families of Japanese., Nippon Ketsueki Gakkai Zasshi , 34(4), 479-83, 1971 PubMed
- Kaufman S, Leiba H, Clejan L, Wallis K, Lorkin PA, Lehmann H, Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia., Hum. Hered. , 25(1), 60-8, 1975 PubMed
- Schillirò G, Russo-Mancuso G, Dibenedetto SP, Samperi P, di Cataldo A, Ragusa R, Testa R, Six rare hemoglobin variants found in Sicily., Hemoglobin, 15(5), 431-7, 1991 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2017-04-11 12:01:51 (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 | 2017-04-11 12:01:51 | The IthaGenes Curation Team | Reviewed. Mutation Names/DNA Info added. References added. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2023-01-27 12:18:23