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NA16643 DNA from LCL

Description:

ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
HEMOGLOBIN--BETA LOCUS; HBB
FACTOR V DEFICIENCY

Affected:

Yes

Sex:

Female

Age:

34 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Mutations of the Hemoglobin Loci
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Elevated red cell mass; active erythropoiesis; high affinity hemoglobin; the donor subject carries the hemoglobin Potomac mutation [GLU101ASP (E101D) in the HBB gene; the donor subject is heterozygous for a guanine-to-adenine substitution at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) ].

Characterizations

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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
 
Gene F5
Chromosomal Location 1q23
Allelic Variant 1 227400.0001; THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN
Identified Mutation 20009404T>C; Bertina et al. [Nature 369: 64-67 (1994)] identified a mutation in the F5 gene as the basis of deficiency of the cofactor of activated protein C in a family with APC resistance and proneness to thrombosis. In 2 patients classified as homozygous for the deficiency of the cofactor, they found homozygosity for a guanine-to-adenine substitution at nucleotide 1691. This mutation predicted the replacement of arg506 (CGA) by gln (CAA). They referred to the mutation as FV Q506 or FV Leiden. (This mutation is also known as R506Q, using the single letter symbols for the amino acid change. It is also known as G1691A, or, to avoid confusion of the single letter symbol for nucleotides with similar symbols for amino acids, 1691G-A.)
 
Gene HBB
Chromosomal Location 11p15.5
Allelic Variant 1 141900.0225; HEMOGLOBIN POTOMAC
Identified Mutation GLU101ASP; Charache et al. [Blood 51: 331-338 (1978)] reported that blood from a woman with unexplained erythrocytosis had increased oxygen affinity, but no abnormality could be detected by electrophoresis or chromatography of her hemolysate. Separation of the tryptic peptides of her beta chains disclosed two half-sized peaks in the regions of beta T-11. The faster of these was abnormal, with the structure beta 101 Glu replaced by Asp. The new hemoglobin was called "Potomac."

Phenotypic Data

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Remarks Elevated red cell mass; active erythropoiesis; high affinity hemoglobin; the donor subject carries the hemoglobin Potomac mutation [GLU101ASP (E101D) in the HBB gene; the donor subject is heterozygous for a guanine-to-adenine substitution at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) ].

External Links

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dbSNP dbSNP ID: 12376
Gene Cards HBB
Gene Ontology GO:0005344 oxygen transporter activity
GO:0005507 copper ion binding
GO:0005576 extracellular
GO:0005833 hemoglobin complex
GO:0006810 transport
GO:0007155 cell adhesion
GO:0007596 blood coagulation
GO:0015671 oxygen transport
NCBI Gene Gene ID:2153
Gene ID:3043
NCBI GTR 141900 HEMOGLOBIN--BETA LOCUS; HBB
227400 FACTOR V DEFICIENCY
617980 ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
OMIM 141900 HEMOGLOBIN--BETA LOCUS; HBB
227400 FACTOR V DEFICIENCY
617980 ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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