IthaID: 3434



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 87 CAC>CAG [His>Gln] HGVS Name: HBA1:c.264C>G
Hb Name: Hb Lansing-Ramathibodi Protein Info: α1 87(F8) His>Gln

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLQAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Carriers of this variant have no apparent anaemia with low measured oxygen saturation by pulse oximetry (SpO2), whereas co-inheritance with Hb Pakse produces mild anaemia.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37960
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: Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Trakulsrichai S, Panthan B, Jittorntam P, Niparuck P, Sriapha C, Chantratita W, Wananukul W, Trachoo O, FIRST IDENTIFICATION OF HEMOGLOBIN LANSINGRAMATHIBODI [α87(F8)His → Gln; CAC>CAG (HBA1: c.264C>G)] IN A THAI FAMILY WITHSPURIOUS HYPOXEMIA., Southeast Asian J. Trop. Med. Public Health, 47(5), 1048-54, 2016 PubMed
Created on 2019-06-11 14:16:49, Last reviewed on (Show full history)

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