PSTPIP1
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.37181G>C
CDS: c.748G>C
AnimoAcid: p.Glu250Gln		 Substitutions Denaturing HPLC, Direct sequencing Wise CA et al., 2002
2 Substitutions Genomic: g.36102G>A
CDS: c.688G>A
AnimoAcid: p.Ala230Thr		 Substitutions Denaturing HPLC, Direct sequencing Wise CA et al., 2002