IthaID: 1272



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 136 GGT>GAT HGVS Name: HBB:c.410G>A
Hb Name: Hb Hope Protein Info: β 136(H14) Gly>Asp

Context nucleotide sequence:
GCTGCCTATCAGAAAGTGGTGGCTG [A/C/G] TGTGGCTAATGCCCTGGCCCACAAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVADVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71984
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Black | Cuban | Japanese | Laotian | Thai
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
388Hb HopeβD-10Dual Kit Program49.20.73In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. [PDF]
391Hb HopeβVARIANT IIDual Kit Program47.80.921In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. [PDF]
389Hb HopeβVARIANTβ-thal Short Program47.31.36In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. [PDF]
390Hb HopeβVARIANT IIβ-thal Short Program47.81.4In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. [PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Hubbard M, Wilson JB, Wrightstone RN, Efremov GD, Huisman TH, Hb Camden and Hb Hope found during routine testing., Acta haematologica, 54(1), 53-8, 1975 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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