IthaID: 830



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 7 GAG>GGG HGVS Name: HBB:c.23A>G
Hb Name: Hb G-San José Protein Info: β 7(A4) Glu>Gly

Context nucleotide sequence:
ACCATGGTGCATCTGACTCCTGAGG [A/G] GAAGTCTGCCGTTACTGCCCTGTGG (Strand: -)

Protein sequence:
MVHLTPEGKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70617
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian, Mexican
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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
409Hb G-San JoséβD-10Dual Kit Program314.17Clinically normal. Elutes in S Window. [PDF]
441Hb G-San JoséβD-10Dual Kit Program28.54.18Clinically normal. Elutes in S Window. [PDF]
412Hb G-San JoséβVARIANT IIDual Kit Program32.93.564Clinically normal. [PDF]
444Hb G-San JoséβVARIANT IIDual Kit Program31.33.623Clinically normal. [PDF]
410Hb G-San JoséβVARIANTβ-thal Short Program34.54.54Clinically normal. [PDF]
442Hb G-San JoséβVARIANTβ-thal Short Program31.34.52Clinically normal. [PDF]
411Hb G-San JoséβVARIANT IIβ-thal Short Program36.64.6Clinically normal. Elutes in S Window. [PDF]
443Hb G-San JoséβVARIANT IIβ-thal Short Program33.34.6Clinically normal. Elutes in S Window. [PDF]

Sequence Viewer

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Publications / Origin

  1. Musumeci S, Schilirò G, Pizzarelli G, Tentori L, Marinucci M, Fontanarosa PP, Russo G, Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family., Human genetics, 52(2), 239-47, 1979 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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