IthaID: 2829

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs5006884	HGVS Name:	NC_000011.10:g.5352021C>T

Context nucleotide sequence:
GTTTCCCTACTGTCGATCCCATGTA [C/T] TCTCCCATGCTTTCTGTCTACACCA (Strand: +)

Protein sequence:
MGLNKSASTFQLTGFPGMEKAHHWIFIPLLAAYISILLGNGTLLFLIRNDHNLHEPMYYFLAMLAATDLGVTLTTMPTVLGVLWLDHREIGHGACFSQAYFIHTLSVMESGVLLAMAYDCFITIRSPLRYTSILTNTQVMKIGVRVLTRAGLSIMPIVVRLHWFPYCRSHVFSHAFCLHQDVIKLACADITFNRLYPVVVLFAMVLLDFLIIFFSYILILKTVMGIGSGGERAKALNTCVSHICCILVFYVTVVCLTFIHRFGKHVPHVVHITMSYIHFLFPPFMNPFIYSIKTKQIQSGILRLFSLPHSRA

Also known as:

Comments: rs5006884 is found in a region on chromosome 11 containing the olfactory genes OR51B5 and OR51B6. It associated with HbF levels in the Cooperative Study of Sickle Cell Disease (CSSCD; n=848), as well as in a replication study, which enrolled subjects from the Multicenter Study of Hydroxyurea (MSH; n=212), the Duke University pulmonary hypertension study (n=78), and the Boston Medical Center (BMC) pulmonary hypertension study (n=15) [PMID: 20018918]. The association was not replicated in a Cameroonian sickle cell anaemia cohort (n=596) [PMID: 24667352]. Associated with risk of acute chest syndrome in pediatric patients with SCA from southeastern Brazil (n=250).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749] Acute chest syndrome

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	N/A
Locus Location:	N/A
Size:	1 bp
Located at:	OR51B6
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	African American, Brazilian
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

Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster., Blood , 115(9), 1815-22, 2010 PubMed
Wonkam A, Ngo Bitoungui VJ, Vorster AA, Ramesar R, Cooper RS, Tayo B, Lettre G, Ngogang J, Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon., PLoS ONE , 9(3), e92506, 2014 PubMed
Sales RR, Belisário AR, Faria G, Mendes F, Luizon MR, Viana MB, Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia., Ann Hematol, 99(7), 1453-1463, 2020 PubMed

Created on 2016-05-17 12:31:39, Last reviewed on 2022-03-31 11:19:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-05-17 12:31:39	The IthaGenes Curation Team	Created
2	2016-05-25 10:19:43	The IthaGenes Curation Team	Reviewed.
3	2022-03-31 11:19:14	The IthaGenes Curation Team	Reviewed. Reference, Phenotype, Ethnic origin added. Comment updated.

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