IthaID: 2503



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 75 GAC>TAC [Asp>Tyr] HGVS Name: HBA1:c.226G>T
Hb Name: Hb Winnipeg Protein Info: α1 75(EF4) Asp>Tyr

Context nucleotide sequence:
GACCAACGCCGTGGCGCACGTGGAC [A/C/G/T] ACATGCCCAACGCGCTGTCCGCCCT (Strand: +)

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37922
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: Caucasian, Sardinian
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
373Hb Winnipegα1D-10Dual Kit Program16.74.46Heterozygote.[PDF]
375Hb Winnipegα1VARIANT IIDual Kit Program16.14.084Heterozygote.[PDF]
374Hb Winnipegα1VARIANTβ-thal Short Program184.74Heterozygote.[PDF]

Sequence Viewer

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Publications / Origin

  1. Vella F, Wiltshire B, Lehmann H, Galbraith P, Hemoglobin Winnipeg: alpha2 75 Asp leads to Tyr beta2., Clin. Biochem. , 6(2), 66-70, 1973 PubMed
  2. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 11:12:32, Last reviewed on (Show full history)

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