IthaID: 626



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 78 AAC>AAG or AAA [Asn>Lys] HGVS Name: HBA2:c.[237C>A ;237C>G]
Hb Name: Hb Stanleyville-II Protein Info: α2 78(EF7) Asn>Lys

Context nucleotide sequence:
TGGCGCACGTGGACGACATGCCCAA [C/G] GCGCTGTCCGCCCTGAGCGACCTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPKALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34129
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
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
129Hb Stanleyville-IIα2D-10Dual Kit Program31.24.01Heterozygous. Clinically normal.[PDF]
132Hb Stanleyville-IIα2VARIANT IIDual Kit Program32.13.401Heterozygous. Clinically normal. Elutes as HbS.[PDF]
130Hb Stanleyville-IIα2VARIANTβ-thal Short Program29.94.18Heterozygous. Clinically normal. Elutes as HbS. [PDF]
131Hb Stanleyville-IIα2VARIANT IIβ-thal Short Program29.74.31Heterozygous. Clinically normal. Elutes as HbS.[PDF]

Sequence Viewer

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Publications / Origin

  1. Van Ros G, Beale D, Lehmann H, Haemoglobin Stanleyville II (alpha asparagine replaced by lysine)., Br Med J , 4(5623), 92-3, 1968 PubMed
  2. North ML, Darbre PD, Lehmann H, Juif JG, Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France., Acta Haematol. , 53(1), 56-9, 1975 PubMed
  3. Rhoda MD, Martin J, Blouquit Y, Garel MC, Edelstein SJ, Rosa J, Sickle cell hemoglobin fiber formation strongly inhibited by the Stanleyville II mutation (alpha 78 Asn leads to Lys)., Biochem. Biophys. Res. Commun. , 111(1), 8-13, 1983 PubMed
  4. Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C, Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE., Hum. Mutat. , 24(4), 338-49, 2004 PubMed
  5. 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
  6. Silva MR, Sendin SM, Pimentel FS, Velloso-Rodrigues C, Romanha ÁJ, Viana MB, Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: incidence of 1:11,500 in a newborn screening program in Brazil., Hemoglobin , 36(4), 388-94, 2012 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2018-01-30 18:56:50 (Show full history)

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