IthaID: 404



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 113-116 (-12 bp) & CD 112 (C>G) HGVS Name: HBA2:c.[339C>G;340_351delCTCCCCGCCGAG]
Hb Name: Hb Leida Protein Info: α2 112(G19) His>Gln AND α2 113(GH1) - 116(GH4) Leu-Pro-Ala-Glu->0

Context nucleotide sequence:
CCTGCTGGTGACCCTGGCCGCCCAC [-/CTCCCCGC] TTCACCCCTGCGGTGCACGCCTCCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAQLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34373
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α+/α0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ayala S, Colomer D, Gelpí JL, Corrons JL, alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online., Human mutation, 11(5), 412, 1998 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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