IthaID: 2670

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs5911 HGVS Name: NG_008331.1:g.18809T>G

Context nucleotide sequence:

Protein sequence:

Also known as: HPA-3

Comments: Significant association of HPA-3a/3b and HPA-3b/3b genotypes with vaso-occlusive crisis (VOC) in Bahraini-Arabs with sickle cell anaemia (127 VOC, 130 steady-state). HPA-3 genotypes were significantly associated with need for hospitalization, VOC frequency, type (localized vs. generalized) and medication (narcotics vs. NSAIDs).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Vaso-occlusive crisis


Chromosome: 17
Locus: NG_008331.1
Locus Location: 18809
Size: 1 bp
Located at: ITGA2B
Specific Location: Exon 26

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Bahraini Arab
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

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. Al-Subaie AM, Fawaz NA, Mahdi N, Al-Absi IK, Al-Ola K, Ameen G, Almawi WY, Human platelet alloantigens (HPA) 1, HPA2, HPA3, HPA4, and HPA5 polymorphisms in sickle cell anemia patients with vaso-occlusive crisis., Eur. J. Haematol. , 83(6), 579-85, 2009 PubMed
Created on 2016-05-11 11:23:00, Last reviewed on 2020-03-26 15:25:32 (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.