NPHS2 mutations account for only 15 % of nephrotic syndrome cases

BMC Medical Genetics

Table 2 Exonic mutations in silico prediction

Enhancer motifs analysis through ESE finder matrices for SRp40, SC35, SF2/ASF and SRp55 proteins
Sequence Variant	Sequence position^a	Linked SR^b protein	Reference motif	Linked SR^b protein	Mutant motif		Variation
Sequence Variant	Sequence position^a	Linked SR^b protein	(value 0–100)^c	Linked SR^b protein	(value 0–100)^c		Variation
c.779 T > A	776	-	-	SF2/ASF	AAGAGGA (80.37)		New ESS site
c.851C > T	845	-	-	SF2/ASF	CTGAAGT (75.38)		New ESS site
c.928G > A	923	SF2/ASF	CAGCTGA (78.10)	-	-		Site broken
Potencial splice sites prediction through HSF matrices
Sequence Variant	Sequence position	Splice site type	Motif	New splice site	Wild type^d	Mutant^d	Variaton
c.779 T > A	769	Acceptor	GGAATCAAAGTGGA	ggaatcaaagagGA	38.61	67.56	New site +74.98

^aPosition in cDNA from ATG codon; ^bSR = serine/arginine rich proteins; ^c = Consensus values go from 0 to 100 and the threshold is defined differently for each algorithm. Threshold for SF2/ASF from ESE finder matrices is 72.98. Every signal with a score above the defined threshold is considered to be a potential ESE/ESS. ^dFor HSF matrices consensus values go from 0 to 100 and threshold is 65. Every signal with a score above the threshold is considered to be a splice site (donor or acceptor). When a mutation occurs if the WT score is under the threshold and the score variation is above +10 % for HSF it is considered that the mutation creates a new splice site

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