IthaID: 2306



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 1 GTG>CTG (Val>Leu) HGVS Name: HBA2:c.4G>C
Hb Name: Hb St. Josef Protein Info: α2 1(NA1) Val>Leu

Context nucleotide sequence:
ACAGACTCAGAGAGAACCCACCATG [A/C/G] TGCTGTCTCCTGCCGACAAGACCAA (Strand: +)

Protein sequence:
MLLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: The same mutation has been described in the α1 gene (Hb Baldock - ithaID: 429)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33779
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Decreased 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: Moroccan
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Versteegh FG, van Leer EH, Starreveld JS, Kok PJ, van Rooijen-Nijdam I, van Delft P, Zanella-Cleon I, Becchi M, Wajcman H, Giordano PC, Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion., Hemoglobin , 31(3), 313-23, 2007 PubMed
Created on 2014-01-08 17:27:54, Last reviewed on 2014-01-09 16:25:24 (Show full history)

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