STX11
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.36913C>T
CDS: c.802C>T
AnimoAcid: p.Gln268X		 Substitutions Direct sequencing zur Stadt U et al., 2005
2 Substitutions Genomic: g.36913C>T
CDS: c.802C>T
AnimoAcid: p.Gln268X		 Substitutions Direct sequencing Rudd E et al., 2006
3 Substitutions Genomic: g.36913C>T
CDS: c.802C>T
AnimoAcid: p.Gln268X		 Substitutions Direct sequencing Bryceson YT et al., 2007
4 Deletion Genomic: g.36221delC
CDS: c.110delC
AnimoAcid: p.Thr37ArgfsX26		 Deletion Direct sequencing Bryceson YT et al., 2007
5 Deletion Genomic: g.[36480_36481delAG; 36485_36487delCGC]
CDS: c.[369_370delAG; 374_376delCGC]
AnimoAcid: p.Val124fsX60		 Deletion Direct sequencing Albayrak M et al., 2009
6 Substitutions Genomic: g.36184G>T
CDS: c.73G>T
AnimoAcid: p.Glu25X		 Substitutions Direct sequencing Marsh RA et al., 2010
7 Substitutions Genomic: g.36217G>C
CDS: c.106G>C
AnimoAcid: p.Glu36Gln		 Substitutions Direct sequencing Marsh RA et al., 2010
8 Substitutions Genomic: g.36727G>A
CDS: c.616G>A
AnimoAcid: p.Glu206Lys		 Substitutions Direct sequencing Marsh RA et al., 2010
9 Deletion Genomic: g.36692_36695delTGGC
CDS: c.581_584delTGGC
AnimoAcid: p.Leu194ProfsX2		 Deletion Direct sequencing, PCR based assay Danielian S et al., 2010