IthaID: 684



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 95 CCG>CGG [Pro>Arg] HGVS Name: HBA1:c.287C>G
Hb Name: Hb St. Luke's Protein Info: α1 95(G2) Pro>Arg

Context nucleotide sequence:
CACGCGCACAAGCTTCGGGTGGACC [A/C/G/T] GGTCAACTTCAAGGTGAGCGGCGGG (Strand: +)

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37983
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: Unstable
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: Japanese, Maltese
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
327Hb St. Luke'sα1D-10Dual Kit Program8.54.21Heterozygous. Elutes with HbS. [PDF]
330Hb St. Luke'sα1VARIANT IIDual Kit Program8.83.68Heterozygous.[PDF]
328Hb St. Luke'sα1VARIANT IIβ-thal Short Program9.44.46Heterozygous. Elutes with HbS. [PDF]
329Hb St. Luke'sα1VARIANT IIβ-thal Short Program8.84.58Heterozygous. Elutes with HbS. [PDF]

Sequence Viewer

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Publications / Origin

  1. Bannister WH, Grech JL, Plese CF, Smith LL, Barton BP, Wilson JB, Reynolds CA, Huisman TH, Hemoglobin St Luke's, or alpha 2 , 95 Arg (G2) beta 2 ., Eur. J. Biochem. , 29(2), 301-7, 1972 PubMed
  2. Lorkin PA, Casey R, Clark KG, Lehmann H, The oxygen affinity of haemoglobin St. Luke's., FEBS Lett. , 39(1), 111-4, 1974 PubMed
  3. Harano T, Harano K, Shibata S, Ueda S, Tsuchida J, Marumoto K, Yakeishi Y, Murakami T, Hb St. Luke's [alpha 95 (G2) Pro replaced by Arg] in Japan., Hemoglobin , 7(5), 471-2, 1983 PubMed
  4. 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 16:13:16, Last reviewed on 2014-04-14 14:54:55 (Show full history)

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