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:
TTCATGATCCCAAGCTGAAAGGCAA [G/T] CCCTCCAGAGAGCGTTATGTGACCC (Strand: +)
Protein sequence:
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVNTPEHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLVRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGNPSRERYVTHNRAHW
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].
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: |
Acute chest syndrome Pulmonary arterial hypertension [HP:0002092] [OMIM:265400] Vaso-occlusive crisis |
Location
| 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 |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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