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

dbSNP

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

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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 PubMed
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)

A/A	Date	Curator(s)	Comments
1	2016-09-29 12:04:27	The IthaGenes Curation Team	Created
2	2017-07-19 13:29:35	The IthaGenes Curation Team	Reviewed. Mutation info, Clinical phenotype, and Other Details sections updated. Reference added.

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