IthaID: 976



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 52 GAT>CAT HGVS Name: HBB:c.157G>C
Hb Name: Hb Summer Hill Protein Info: β 52(D3) Asp>His

Context nucleotide sequence:
GTCCTTTGGGGATCTGTCCACTCCT [A/C/G/T] ATGCTGTTATGGGCAACCCTAAGGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPHAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70881
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Lebanese | Turkish
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
224Hb Summer HillβD-10Dual Kit Program35.83.88Heterozygote. Clinically normal. Elutes in HbS window.[PDF]
225Hb Summer HillβVARIANTβ-thal Short Program38.44.24Heterozygote. Clinically normal. Elutes in HbS window.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Cin S, Akar N, Cavdar AO, Arcasoy A, Dedeoglu S, Webber B, Lam H, Huisman TH, Hb Summer Hill or alpha 2 beta 2(52)(D3)Asp replaced by His in a Turkish family from Cyprus., Hemoglobin, 7(5), 467-70, 1983 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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