IthaID: 3304

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs734784	HGVS Name:	NC_000020.11:g.45094986T>C

Context nucleotide sequence:
AGAGTTTGAGGACTTGCTGAGCAGC [A/G] TTGATGGGGTGTCGGAGGCATCTCT (Strand: -)

Protein sequence:
MLMLLVRGTHYENLRSKVVLPTPLGGRSTETFVSEFPGPDTGIRWRRSDEALRVNVGGVRRQLSARALARFPGTRLGRLQAAASEEQARRLCDDYDEAAREFYFDRHPGFFLSLLHFYRTGHLHVLDELCVFAFGQEADYWGLGENALAACCRARYLERRLTQPHAWDEDSDTPSSVDPCPDEISDVQRELARYGAARCGRLRRRLWLTMENPGYSLPSKLFSCVSISVVLASIAAMCIHSLPEYQAREAAAAVAAVAAGRSPEGVRDDPVLRRLEYFCIAWFSFEVSSRLLLAPSTRNFFCHPLNLIDIVSVLPFYLTLLAGVALGDQGGKEFGHLGKVVQVFRLMRIFRVLKLARHSTGLRSLGATLKHSYREVGILLLYLAVGVSVFSGVAYTAEKEEDVGFNTIPACWWWGTVSMTTVGYGDVVPVTVAGKLAASGCILGGILVVALPITIIFNKFSHFYRRQKALEAAVRNSNHQEFEDLLSSVDGVSEASLETSRETSQEGQSADLESQAPSEPPHPQMY

Also known as:

Comments: SNP associated with vaso-occlusive crisis episodes in sickle cell disease in Cameroon.

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:	Vaso-occlusive crisis

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	20
Locus:	N/A
Locus Location:	N/A
Size:	1 bp
Located at:	KCNS1
Specific Location:	Exon 5

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Wonkam A, Mnika K, Ngo Bitoungui VJ, Chetcha Chemegni B, Chimusa ER, Dandara C, Kengne AP, Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon., Br. J. Haematol. , 180(1), 134-146, 2018 PubMed

Created on 2018-01-31 18:55:36, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2018-01-31 18:55:36	The IthaGenes Curation Team	Created

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