IthaID: 652


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 88 GCG>GTG [Ala>Val] HGVS Name: HBA1:c.266C>T | HBA2:c.266C>T
Hb Name: Hb Columbia Missouri Protein Info: α2 or α1 88(F9) Ala>Val

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHVHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 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: N/A
Ethnic Origin: Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Perry MC, Head C, Fairbanks VF, Jones RT, Taylor H, Proud V, Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis., Mayo Clin. Proc. , 66(1), 5-10, 1991
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 09:44:07 (Show full history)

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