IthaID: 3553
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1800450 | HGVS Name: | NG_008196.1:g.5226G>A |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTCCCAGGCAAAGATGGGCGTGATG [G>A] CACCAAGGGAGAAAAGGGGGAAC (Strand: -)
Protein sequence:
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDDTKGEKGEPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSHLAVCEFPI
Comments: SNP associated with a protective effect against infection (meningitis, septicaemia or osteomyelitis) in pediatric patients with sickle cell disease living in Paris.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Recurrent infections [HP:0002719] |
Location
| Chromosome: | 10 |
|---|---|
| Locus: | NG_008196.1 |
| Locus Location: | 5226 |
| Size: | 1 bp |
| Located at: | MBL2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Neonato MG, Lu CY, Guilloud-Bataille M, Lapouméroulie C, Nabeel-Jassim H, Dabit D, Girot R, Krishnamoorthy R, Feingold J, Besmond C, Elion J, Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections., Eur. J. Hum. Genet., 7(6), 679-86, 1999
Created on 2019-12-23 10:46:36,
Last reviewed on (Show full history)
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