
IthaID: 3434
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
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 |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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 |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 37960 |
Size: | 1 bp |
Located at: | α1 |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Thai |
Molecular mechanism: | Altered heme pocket |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2019-06-11 14:16:49,
Last reviewed on (Show full history)
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