IthaID: 605



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 72 CAC>CAA [His>Gln] HGVS Name: HBA2:c.219C>A
Hb Name: Hb Gouda Protein Info: α2 72(EF1) His>Gln

Context nucleotide sequence:
ACGCGCTGACCAACGCCGTGGCGCA [A/C] GTGGACGACATGCCCAACGCGCTGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAQVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34111
Size: 1 bp
Located at: α2
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: Dutch
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
357Hb Goudaα2D-10Dual Kit Program28.71.43Heterozygote. Clinically normal.[PDF]
551Hb Goudaα2VARIANT IIDual Kit Program33.31.557heterozygote[PDF]
358Hb Goudaα2VARIANTβ-thal Short Program30.91.64Heterozygote. Clinically normal.[PDF]
550Hb Goudaα2VARIANT IIβ-thal Short Program31.11.7heterozygote[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. Giordano PC, Harteveld CL, Kok PJ, Geenen A, Batelaan D, Amons R, Bemini LF, HB Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant., Hemoglobin , 20(1), 21-9, 1996 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-10 09:22:05 (Show full history)

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