IthaID: 1068
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 80 AAC>AAG [Asn>Lys] | HGVS Name: | HBB:c.243C>G |
| Hb Name: | Hb G-Szuhu | Protein Info: | β 80(EF4) Asn>Lys |
| Also known as: | Hb Gifu |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTGATGGCCTGGCTCACCTGGACAA [C>G] CTCAAGGGCACCTTTGCCACACTGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDKLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: Initially reported by protein analysis as an asparagine [AAC] to lysine [AAA or AAG] change at position β80, which is in the nonhelical EF section of the β-chain, in families of different origins. Later reported as a c.243C>G change by DNA analysis. Asp (neutral) to Lys (positive charge) substitution changes the charge of the Hb molecule. The electrophoretic mobility is similar to the other variant Hb of the D and G group. It can result in falsely low HbA1c concentration readings when using HPLC. It does not disturb the oxygenation/deoxygenation function, nor the stability of the Hb molecule. Its presence does not appear to cause any clinical or hematological abnormality; the Hb GSzuhu/β0-thalassemia condition apparently is more or less comparable to a simple β0-thalassemia. The same Hb variant is also described as Hb G Gifu in Japan.
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, Turkish Jews, English, Spanish, Japanese, Sinhalese, Sicilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
| 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
Sequence Viewer
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
- Welch SG, Haemoglobin G Szuhu beta 80 asn leads to lys in an English family., Humangenetik, 28(4), 331-3, 1975 PubMed
- Romero C, Fernandez Fuertes I, Quintana A, Blanco L, Navarro JL, Wilson JB, Huisman TH, Hb G-Szuhu or alpha 2 beta 2(80)(EF4)Asn----Lys, in combination with beta zero-thalassemia in a Spanish family., Hemoglobin, 9(5), 535-9, 1985 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
- Moriwaki Y, Yamamoto T, Shibutani Y, Harano T, Takahashi S, Hada T, Abnormal haemoglobins, Hb Takamatsu and Hb G-Szuhu, detected during the analysis of glycated haemoglobin (HbA1C) by high performance liquid chromatography., J Clin Pathol, 53(11), 854-7, 2000 PubMed
- Perera PS, Silva I, Hapugoda M, Wickramarathne MN, Wijesiriwardena I, Efremov DG, Fisher CA, Weatherall DJ, Premawardhena A, Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan families., Hemoglobin , 39(1), 62-5, 2015 PubMed