IthaID: 3113

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs5370 HGVS Name: NG_016196.1:g.10727G>T

Context nucleotide sequence:

Protein sequence:

Also known as: 5665G>T

Comments: SNP (T allele) associated with an increased susceptibility of acute chest syndrome (ACS) in patients with sickle cell anaemia (SCA) from Northeast Brazil [PMID: 27486304]. SNP associated with ACS, pulmonary hypertension, and severe vaso-occlusive crises in pediatric Egyptian SCA patients [PMID: 28548215].

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome
Pulmonary arterial hypertension [HP:0002092] [OMIM:265400]
Vaso-occlusive crisis


Chromosome: 6
Locus: NG_016196.1
Locus Location: 10727
Size: 1 bp
Located at: EDN1
Specific Location: Exon 5

Other details

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

Sequence Viewer

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Publications / Origin

  1. Vilas-Boas W, Figueiredo CV, Pitanga TN, Carvalho MO, Santiago RP, Santana SS, Guarda CC, Zanette AM, Cerqueira BA, Gonçalves MS, Endothelial Nitric Oxide Synthase (-786T>C) and Endothelin-1 (5665G>T) Gene Polymorphisms as Vascular Dysfunction Risk Factors in Sickle Cell Anemia., Gene Regul Syst Bio , 10(0), 67-72, 2016 PubMed
  2. Khorshied MM, Mohamed NS, Hamza RS, Ali RM, El-Ghamrawy MK, Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients., J. Clin. Lab. Anal. , 2017 PubMed
Created on 2016-09-29 12:04:27, Last reviewed on 2017-07-19 13:29:35 (Show full history)

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