ABCMdb

PMID: 21594610

Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
Hum Genet. 2011 Nov;130(5):671-83. Epub 2011 May 19., [PubMed]

Sentences

No. Mutations Sentence Comment

182 ABCG2 p.Gln141Lys ABCG2 p.Val12Met Amino acid AF dbSNP II-2 II-3 VIII-2 1 AGL 100,336,361 C [ T Syn. 0.7 rs2230306 T/T -/T -/T 4 ABCG2b 89,034,551 G [ A Syn. 0.02 rs35622453 -/- -/- -/A 89,052,323 C [ A Q141K 0.31 rs2231142 -/A A/A -/- 89,061,114 G [ A V12M 0.19 rs2231137 -/A -/- -/A 4 SLC2A9b 9,909,923 C [ T P350L 0.33 rs2280205 -/T -/T -/- 9,922,130 G [ A R294H 0.72 rs3733591 -/A -/- -/A 9,998,440 G [ A Syn. 0.54 rs10939650 -/A A/A -/A 10,022,981 G [ A G25R 0.43 rs2276961 -/A -/A -/- 10,027,542 G [ A A17T 0.06 rs6820230 -/- -/A -/A 11 SLC22A12b 64,359,286 C [ T Syn. 0.21 rs3825016 -/T T/T -/T 64,360,274 C [ T Syn. 0.81 rs11231825 -/T -/- -/T 12 PFKM n.d. 16 UMODb n.d. 17 G6PC n.d. X HPRT1a n.d. X PRPS1a n.d. X MAOA 43,591,036 G [ T Syn. 0.3 rs6323 -/- T/T T/T a The gene is associated with purine metabolism b The gene is associated with renal excretion of urate - symbol represents in the patients` genotypes mean being identical to the reference nucleotides Syn synonymous nucleotide change, AF allelic frequency of the changed nucleotide, n.d. no SNPs are detected Discussion Phenotypic variabilities of OI mutations We identified a heteroallelic c.3235G[A mutation in COL1A1 exon 45 in a Japanese family with mild OI type I. Login to comment