IthaID: 653


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 88 GCG>GGG [Ala>Gly] HGVS Name: HBA1:c.266C>G | HBA2:c.266C>G
Hb Name: Hb Valparaiso Protein Info: α2 or α1 88(F9) Ala>Gly

Context nucleotide sequence:
CTGTCCGCCCTGAGCGACCTGCACG [A/C/G/T] GCACAAGCTTCGGGTGGACCCGGTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHGHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 34158 or 37962
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chilean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wajcman H, de Montalembert M, Girot R, Kister J, Maier-Redelsperger M, Galacteros F, The use of Staphylococcus V8 protease in the structural determination of human hemoglobin variants: HB Valparaiso [alpha 88(F9)Ala-->Gly] example., Hemoglobin , 18(4), 275-84, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 09:48:17 (Show full history)

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