IthaID: 3554



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1800451 HGVS Name: NG_008196.1:g.5235G>A

Context nucleotide sequence:
AAAGATGGGCGTGATGGCACCAAGG [G>A] AGAAAAGGGGGAACCAGGTACGTGT (Strand: -)

Protein sequence:
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKEEKGEPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSHLAVCEFPI

Also known as:

Comments: SNP associated with a protective effect against infection (meningitis, septicaemia or osteomyelitis) in pediatric patients with sickle cell disease living in Paris.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 5235
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: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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 PubMed
Created on 2019-12-23 10:53:43, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.