IthaID: 3554



Names and Sequences

Functionality: Disease modifying mutation
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.

External Links

Location

Chromosome: 10
Locus: NG_008196.1
Locus Location: 5235
Size: 1 bp
Located at: MBL2
Specific Location: Exon 1

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Recurrent infections [HP:0002719]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

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 10:53:43, Last reviewed on (Show full history)

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