IthaID: 1010


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 63 CAT>CCT HGVS Name: HBB:c.191A>C
Hb Name: Hb Bicêtre Protein Info: β 63(E7) His>Pro

Context nucleotide sequence:
ATGGGCAACCCTAAGGTGAAGGCTC [A/C/G] TGGCAAGAAAGTGCTCGGTGCCTTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAPGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70915
Size: 1 bp
Located at: β
Specific Location: Exon 2

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: American | French
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

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
73Hb BicêtreβD-10Dual Kit Program83.41.69Unstable variant. Elutes with HbA.[PDF]
74Hb BicêtreβVARIANTβ-thal Short Program80.62.34Unstable variant. Elutes with HbA.[PDF]
75Hb BicêtreβVARIANT IIβ-thal Short Program85.22.5Unstable variant. Elutes with HbA.[PDF]
76Hb BicêtreβVARIANT IIDual Kit Program83.81.8Unstable variant. Elutes with HbA.[PDF]

Publications / Origin

  1. Miller DR, Wilson JB, Kutlar A, Huisman TH, Hb Bicêtre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years., American journal of hematology, 21(2), 209-14, 1986
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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