IthaID: 726


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 119 CCT>CTT [Pro>Leu] HGVS Name: HBA1:c.359C>T
Hb Name: Hb Diamant Protein Info: α1 119(H2) Pro>Leu

Context nucleotide sequence:
GCCCACCTCCCCGCCGAGTTCACCC [C/T] TGCGGTGCACGCCTCCCTGGACAAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTLAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38204
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French West Indies
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Préhu C, Riou J, Godart C, Bost M, Barro C, Promé D, Kister J, Galactéros F, Wajcman H, Hb Diamant [alpha119(H2)Pro-->Leu]: a new variant with a modification at the alpha1beta1 interface., Hemoglobin , 24(3), 249-52, 2000
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 18:28:42 (Show full history)

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