IthaID: 546



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 48 CTG>CGG [Leu>Arg] HGVS Name: HBA2:c.146T>G
Hb Name: Hb Montgomery Protein Info: α2 48(CE6) Leu>Arg

Context nucleotide sequence:
AAGACCTACTTCCCGCACTTCGACC [C/G/T] GAGCCACGGCTCTGCCCAGGTTAAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDRSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34038
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: African, Chinese
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
613Hb Montgomeryα2VARIANT IIβ-thal Short Program6.34.98Heterozygous. Association with HbS. [PDF]
615Hb Montgomeryα2VARIANT IIDual Kit Program6.54.425Heterozygous. Association with HbS. [PDF]

Sequence Viewer

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Publications / Origin

  1. Brimhall B, Jones RT, Schneider RG, Hosty TS, Tomlin G, Atkins R, Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg)., Biochimica et biophysica acta, 379(1), 28-32, 1975 PubMed
  2. Zeng YT, Huang SZ, Dong ZY, Hemoglobin Montgomery (alpha 2 48 Leu replaced by Arg beta 2) in a Chinese family., Hemoglobin , 6(2), 213-5, 1982 PubMed
  3. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 13:17:58 (Show full history)

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