IthaID: 665



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 91 CTT>TTT [Leu>Phe] HGVS Name: HBA1:c.274C>T
Hb Name: Hb Vientiane Protein Info: α1 91(FG3) Leu>Phe

Context nucleotide sequence:
CCTGAGCGACCTGCACGCGCACAAG [C/T] TTCGGGTGGACCCGGTCAACTTCAA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKFRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Grey Lynn

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37970
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
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: Laotian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Chan T, Sheen C, Novel hemoglobin (Hb Grey Lynn) substitution (alpha91Leu --> Phe) affects heme interactions and alpha1beta2 contacts., Clin. Chem. , 53(5), 990-1, 2007 PubMed
  2. Singha K, Fucharoen G, Fucharoen S, Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α(+)-thalassemia in an adult Thai proband., Biochem Med (Zagreb) , 24(1), 167-74, 2014 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 11:23:21 (Show full history)

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