IthaID: 2308


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 87 CAC>CAG [His>Gln] HGVS Name: HBA2:c.264C>G
Hb Name: Hb Lansing Protein Info: α2 87(F8) His>Gln

Context nucleotide sequence:
CGCTGTCCGCCCTGAGCGACCTGCA [C/G] GCGCACAAGCTTCGGGTGGACCCGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLQAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34156
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Mexican
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Sarikonda KV, Ribeiro RS, Herrick JL, Hoyer JD, Hemoglobin lansing: a novel hemoglobin variant causing falsely decreased oxygen saturation by pulse oximetry., Am. J. Hematol. , 84(8), 541, 2009
Created on 2014-01-08 17:42:29, Last reviewed on 2015-01-12 12:31:24 (Show full history)

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