IthaID: 1310


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 145 TAT>TGT HGVS Name: HBB:c.437A>G
Hb Name: Hb Rainier Protein Info: β 145(HC2) Tyr>Cys

Context nucleotide sequence:
GTGGCTAATGCCCTGGCCCACAAGT [A/G] TCACTAAGCTCGCTTTCTTGCTGTC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKCH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72011
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Caucasian | French | Greek | Italian
Molecular mechanism: N/A
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
81Hb RainierβD-10Dual Kit Program73.21.69Increased oxygen affinity leading to erythrocytosis. Elutes as a shoulder in the descending part of HbA. [PDF]
82Hb RainierβVARIANT IIβ-thal Short Program78.12.48Increased oxygen affinity leading to erythrocytosis. Elutes as HbA.[PDF]
83Hb RainierβVARIANT IIβ-thal Short Program78.32.51Increased oxygen affinity leading to erythrocytosis. Elutes as a shoulder in the descending part of HbA[PDF]
84Hb RainierβVARIANT IIDual Kit Program72.21.77Increased oxygen affinity leading to erythrocytosis. Elutes as HbA.[PDF]

Publications / Origin

  1. Adamson JW, Parer JT, Stamatoyannopoulos G, Erythrocytosis associated with hemoglobin Rainier: oxygen equilibria and marrow regulation., The Journal of clinical investigation, 48(8), 1376-86, 1969
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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