Description:
HEMOGLOBIN--BETA LOCUS; HBB
SICKLE CELL ANEMIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0243; HEMOGLOBIN S |
| Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
141900.0243; HEMOGLOBIN S |
| Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
| Remarks |
The donor subject has sickle cell disease and beta-plus-thalassemia; two copies of the following mutation were identified: an A-to-T transversion (GAG>GTG) at nucleotide 20 in exon 1 of the HBB gene which results in the substitution of valine for glutamic acid [GLU6VAL (E6V)] at codon 6; the beta-plus-thalassemia mutation is not known. |
| Balderston S, Taulbee JJ, Celaya E, Fung K, Jiao A, Smith K, Hajian R, Gasiunas G, Kutanovas S, Kim D, Parkinson J, Dickerson K, Ripoll JJ, Peytavi R, Lu HW, Barron F, Goldsmith BR, Collins PG, Conboy IM, Siksnys V, Aran K, Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering: 2020 |
| PubMed ID: 33820980 |
| dbSNP |
dbSNP ID: 12348 |
| Gene Cards |
HBB |
| Gene Ontology |
GO:0005344 oxygen transporter activity |
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GO:0005833 hemoglobin complex |
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GO:0006810 transport |
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GO:0015671 oxygen transport |
| NCBI Gene |
Gene ID:3043 |
| NCBI GTR |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
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603903 SICKLE CELL ANEMIA |
| OMIM |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
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603903 SICKLE CELL ANEMIA |
| Omim Description |
BETA-THALASSEMIAS, INCLUDED |
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DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE, INCLUDED |
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ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED |
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HEINZ BODY ANEMIAS, BETA-GLOBIN TYPE, INCLUDED |
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HEMOGLOBIN--BETA LOCUS; HBBSICKLE CELL ANEMIA, INCLUDED |
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METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED |
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