IthaID: 3553



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1800450 HGVS Name: NG_008196.1:g.5226G>A

Context nucleotide sequence:
TTCCCAGGCAAAGATGGGCGTGATG [G>A] CACCAAGGGAGAAAAGGGGGAAC (Strand: -)

Protein sequence:
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDDTKGEKGEPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQASVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSHLAVCEFPI

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: 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

Sequence Viewer

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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 10:46:36, Last reviewed on (Show full history)

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