IthaID: 587



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 64 GAC>CAC [Asp>His] HGVS Name: HBA1:c.193G>C
Hb Name: Hb Q-India Protein Info: α1 64(E13) Asp>His

Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [A/C/G/T] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVAHALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37889
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, Hindu, Iranian
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
309Hb Q-Indiaα1D-10Dual Kit Program14.84.37Heterozygote. Clinically normal.[PDF]
310Hb Q-Indiaα1VARIANTβ-thal Short Program17.34.7Heterozygote. Clinically normal.[PDF]
311Hb Q-Indiaα1VARIANT IIβ-thal Short Program17.24.79Heterozygote. Clinically normal.[PDF]
312Hb Q-Indiaα1VARIANT IIDual Kit Program14.93.93Heterozygote. Clinically normal.[PDF]

In silico pathogenicity prediction

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. Sukumaran PK, Merchant SM, Desai MP, Wiltshire BG, Lehmann H, Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families., J. Med. Genet. , 9(4), 436-42, 1972 PubMed
  2. Schmidt RM, Bechtel KC, Moo-Penn WF, Hemoglobin QIndia, alpha 64 (E13) Asp replaced by His, and beta-thalassemia in a Canadian family., Am. J. Clin. Pathol. , 66(2), 446-8, 1976 PubMed
  3. Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH, beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects., Proceedings of the National Academy of Sciences of the United States of America, 81(9), 2821-5, 1984 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-10 08:04:37 (Show full history)

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