IthaID: 587



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

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

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, Hindu, Iranian
Inheritance: Recessive
DNA Sequence Determined: No
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
309Hb Q-Indiaα1D-10Dual Kit Program14.84.37Heterozygote. Clinically normal.[PDF]
312Hb Q-Indiaα1VARIANT IIDual Kit Program14.93.93Heterozygote. 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]

Sequence Viewer

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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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