PMID: 24380054

Three Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial Function.

BioResearch open access
R Iida, M Ueki, J Fujihara, H Takeshita, K Kimura-Kataoka, T Yasuda
2013-12-01

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-197702955-G-A LMLN c.404G>A p.Arg135Gln Missense 4/16 -
3-197702948-G-C LMLN c.397G>C p.Val133Leu Missense 4/16 -
16-3170145-A-T ZNF205 c.1484A>T p.Gln495Leu Missense 7/7 -
16-3170210-T-A ZNF205 c.1549T>A p.Ser517Thr Missense 7/7 -
3-197748344-G-A LMLN c.1393G>A p.Ala465Thr Missense 13/16 -
16-3166467-C-T ZNF205 c.403C>T p.Arg135Trp Missense 5/7 -
16-3166468-G-A ZNF205 c.404G>A p.Arg135Gln Missense 5/7 -
3-197748332-A-T LMLN c.1381A>T p.Ser461Cys Missense 13/16 -
3-197702954-CGA-TGG LMLN c.403_405delCGAinsTGG p.Arg135Trp Missense 4/16 -
16-3166461-C-G ZNF205 c.397C>G p.Leu133Val Missense 5/7 -
16-3170132-C-T ZNF205 c.1471C>T p.Leu491Phe Missense 7/7 -
3-197748424-A-C LMLN c.1473A>C p.Leu491Phe Missense 13/16 -
3-197748424-A-T LMLN c.1473A>T p.Leu491Phe Missense 13/16 -
16-3170043-C-G ZNF205 c.1382C>G p.Ser461Cys Missense 7/7 -
16-3169587-G-A ZNF205 c.926G>A p.Arg309Gln Missense 7/7 -
16-3170043-C-A ZNF205 c.1382C>A p.Ser461Tyr Missense 7/7 -
16-3170054-G-A ZNF205 c.1393G>A p.Ala465Thr Missense 7/7 -