IthaID: 899



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GCC>GGC HGVS Name: HBB:c.83C>G
Hb Name: Hb Siirt Protein Info: β 27(B9) Ala>Gly

Context nucleotide sequence:
AACGTGGATGAAGTTGGTGGTGAGG [A/C/G/T] CCTGGGCAGGTTGGTATCAAGGTTA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEGLGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70677
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: N/A
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: Kurdish
Inheritance: Recessive
DNA Sequence Determined: Yes
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
49Hb SiirtβD-10Dual Kit Program80.51.69Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. [PDF]
51Hb SiirtβVARIANT IIDual Kit Program80.31.76Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. [PDF]
50Hb SiirtβVARIANTβ-thal Short Program82.32.5Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA.[PDF]
481Hb SiirtβVARIANT IIβ-thal Short Program82.92.54Elutes together with HbA. [PDF]

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Bianco I, Cappabianca MP, Lerone M, Morlupi L, Rinaldi S, Hb Siirt [beta 27(B9)Ala-->Gly]: a new, electrophoretically silent, hemoglobin variant., Hemoglobin, 21(6), 495-7, 1997 PubMed
  2. Cappabianca MP, Colosimo A, Sabatucci A, Dainese E, Di Biagio P, Piscitelli R, Sarra O, Zei D, Amato A, A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant., Hemoglobin , 41(1), 53-55, 2017 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2018-03-05 17:49:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.