IthaID: 533



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 44 CCG>CTG [Pro>Leu] HGVS Name: HBA1:c.134C>T | HBA2:c.134C>T
Hb Name: Hb Milledgeville Protein Info: α2 or α1 44(CE2) Pro>Leu

Context nucleotide sequence:
TTCCCCACCACCAAGACCTACTTCC [C/G/T] GCACTTCGACCTGAGCCACGGCTCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFLHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34026 or 37830
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
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
216Hb Milledgevilleα1 or α2D-10Dual Kit Program5.81.44Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]
219Hb Milledgevilleα1 or α2VARIANT IIDual Kit Program84.11.82Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]
217Hb Milledgevilleα1 or α2VARIANTβ-thal Short Program18.42.19Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]
218Hb Milledgevilleα1 or α2VARIANT IIβ-thal Short Program22.32.26Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]

Sequence Viewer

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Publications / Origin

  1. Honig GR, Vida LN, Shamsuddin M, Mason RG, Schlumpf HW, Luke RA, Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity., Biochim. Biophys. Acta , 626(2), 424-31, 1980 PubMed
  2. Hanss M, Lacan P, Aubry M, Lienhard A, Francina A, Thrombotic events in compound heterozygotes for a high affinity hemoglobin variant: Hb Milledgeville [alpha44(CE2)Pro-->Leu (alpha2)] and factor V Leiden., Hemoglobin , 26(3), 285-90, 2002 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-19 13:22:58 (Show full history)

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