IthaID: 549



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 50 CAC>GAC [His>Asp] HGVS Name: HBA2:c.151C>G
Hb Name: Hb J-Sardegna Protein Info: α2 50(CE8) His>Asp

Context nucleotide sequence:
CTACTTCCCGCACTTCGACCTGAGC [C/G/T] ACGGCTCTGCCCAGGTTAAGGGCCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSDGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: The substitution at the DNA level was found to be CAC>AAC which corresponds to Asn. As a consequence of a very efficient deamidation an Asp is found at the protein level.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34043
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: Italian, 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
133Hb J-Sardegnaα2D-10Dual Kit Program300.51Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated.[PDF]
293Hb J-Sardegnaα2D-10Dual Kit Program36.10.46Heterozygote. Elutes together with HbF.[PDF]
136Hb J-Sardegnaα2VARIANT IIDual Kit Program25.40.676Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated.[PDF]
134Hb J-Sardegnaα2VARIANTβ-thal Short Program29.31.28Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. [PDF]
294Hb J-Sardegnaα2VARIANTβ-thal Short Program34.81.18Heterozygote. Elutes together with HbF. [PDF]
135Hb J-Sardegnaα2VARIANT IIβ-thal Short Program30.31.24Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated.[PDF]
295Hb J-Sardegnaα2VARIANT IIβ-thal Short Program34.31.19Heterozygote. Elutes together with HbF. [PDF]

Sequence Viewer

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Publications / Origin

  1. Tangheroni W, Zorcolo G, Gallo E, Lehmann H, Haemoglobin J Sardegna: alpha 50(CD 8) histidine -aspartic acid., Nature , 218(5140), 470-1, 1968 PubMed
  2. Tangheroni W, Zorcolo G, Gallo E, Lehmann H, A new haemoglobin: Hb J Sardegna (alpha50 histidine--aspartic acid)., Helv Paediatr Acta , 24(2), 174-82, 1969 PubMed
  3. Gallo E, Pugliatti L, Ricco G, Pich PG, Pinna G, Mazza U, A case of haemoglobin J Sardegna- -thalassaemia double heterozygosis., Acta Haematol. , 47(5), 311-20, 1972 PubMed
  4. Meloni T, Pilo G, Camardella L, Cancedda F, Lania A, Pepe G, Luzzatto L, Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population)., Blood , 55(6), 1025-32, 1980 PubMed
  5. Paleari R, Paglietti E, Mosca A, Mortarino M, Maccioni L, Satta S, Cao A, Galanello R, Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp]., Clin. Chem. , 45(1), 21-8, 1999 PubMed
  6. Corda M, De Rosa MC, Pellegrini MG, Sanna MT, Olianas A, Fais A, Manca L, Masala B, Zappacosta B, Ficarra S, Castagnola M, Giardina B, Adult and fetal haemoglobin J-Sardegna [alpha50(CE8)His-->Asp]: functional and molecular modelling studies., Biochem. J. , 346(0), 193-9, 2000 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 13:26:46 (Show full history)

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