IthaID: 3656

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs2298720	HGVS Name:	NG_011775.4:g.48426G>A

Context nucleotide sequence:
GGCTATGTCACCGGTGACATGAAA [G>A] AACTTGCCAACCAGCTTAAAGGTA (Strand: +)

Protein sequence:
MEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKKLANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLGAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL

Also known as:

Comments: Associated with response to hydroxyurea treatment in patients with sickle cell anaemia based on observed alterations in laboratory biomarkers, including renal and inflammatory parameters.

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:	Response to hydroxyurea

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	18
Locus:	NG_011775.4
Locus Location:	48426
Size:	1 bp
Located at:	SLC14A1
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Yahouédéhou SCMA, Neres JSDS, da Guarda CC, Carvalho SP, Santiago RP, Figueiredo CVB, Fiuza LM, Ndidi US, de Oliveira RM, Fonseca CA, Nascimento VML, Rocha LC, Adanho CSA, da Rocha TSC, Adorno EV, Goncalves MS, Sickle Cell Anemia: Variants in the , , and Genes Are Associated With Improved Hydroxyurea Response., Front Pharmacol, 11(0), 553064, 2020 PubMed

Created on 2020-10-13 12:58:42, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-10-13 12:58:42	The IthaGenes Curation Team	Created

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