IthaID: 2944

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs2228570	HGVS Name:	NG_008731.1:g.30920T>C

Context nucleotide sequence:
GGCCTGCTTGCTGTTCTTACAGGGA [A/C/G/T] GGAGGCAATGGCGGCCAGCACTTCC (Strand: -)

Protein sequence:
TEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLEVFGNEIS

Also known as:

Comments: SNP associated with bone mineral density in individuals with β-thalassaemia major (n=64).

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:	Osteoporosis [HP:0000939] [OMIM:166710]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	12
Locus:	NG_008731.1
Locus Location:	30920
Size:	1 bp
Located at:	VDR
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Dimitriadou M, Christoforidis A, Fidani L, Economou M, Vlachaki E, Athanassiou-Metaxa M, Katzos G, A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major., Osteoporos Int , 27(2), 781-8, 2016 PubMed

Created on 2016-08-09 13:02:32, Last reviewed on 2016-08-09 13:04:07 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-08-09 13:02:32	The IthaGenes Curation Team	Created
2	2016-08-09 13:04:07	The IthaGenes Curation Team	Reviewed.

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