IthaID: 2932

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs662	HGVS Name:	NG_008779.1:g.21439A>G

Context nucleotide sequence:
CACTATTTTCTTGACCCCTACTTAC [A/G] ATCCTGGGAGATGTATTTGGGTTTA (Strand: -)

Protein sequence:
MAKLIALTLLGMGLALFRNHQSSYQTRLNALREVQPVELPNCNLVKGIETGSEDLEILPNGLAFISSGLKYPGIKSFNPNSPGKILLMDLNEEDPTVLELGITGSKFDVSSFNPHGISTFTDEDNAMYLLVVNHPDAKSTVELFKFQEEEKSLLHLKTIRHKLLPNLNDIVAVGPEHFYGTNDHYFLDPYLRSWEMYLGLAWSYVVYYSPSEVRVVAEGFDFANGINISPDGKYVYIAELLAHKIHVYEKHANWTLTPLKSLDFNTLVDNISVDPETGDLWVGCHPNGMKIFFYDSENPPASEVLRIQNILTEEPKVTQVYAENGTVLQGSTVASVYKGKLLIGTVFHKALYCEL

Also known as: Q192R

Comments: SNP associated with increased risk of stroke in pediatric African American patients with sickle cell disease (177 cases; 335 controls).

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:	Stroke [HP:0001297] [OMIM:601367]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	7
Locus:	NG_008779.1
Locus Location:	21439
Size:	1 bp
Located at:	PON1
Specific Location:	Exon 6

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Flanagan JM, Sheehan V, Linder H, Howard TA, Wang YD, Hoppe CC, Aygun B, Adams RJ, Neale GA, Ware RE, Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia., Blood , 121(16), 3237-45, 2013 PubMed

Created on 2016-08-09 10:03:14, Last reviewed on 2016-08-09 10:05:22 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-08-09 10:03:14	The IthaGenes Curation Team	Created
2	2016-08-09 10:05:22	The IthaGenes Curation Team	Reviewed.

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