Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

Table 3 Details of rare missense variants identified in TSC genes in ASD cases and parents

TSC gene	SSC Proband/ Parent ID^a	Coordinate^b	Amino acid position^c	Inheritance	Functional prediction by polyphen-2	LOVD TSC database^d	Exome variant server^e
Inherited coding sequence variants
TSC1	11208.p1	135786451	T360N	both	damaging	probably not pathogenic	reported (0.0461)
TSC1	11409.p1	135782214	P448S	paternal	benign	probably not pathogenic	reported (0.3844)
TSC2	11232.p1	2100452	I64V	paternal	damaging	-	-
TSC2	11443.p1	2104414	H152D	maternal	benign	-	-
TSC2	11543.p1	2114426	K533Q	maternal	damaging	-	-
TSC2	11619.p1	2127622	K954R	paternal	benign	-	-
TSC2	11590.p1	2127711	E984Q	paternal	damaging	-	-
TSC2	11196.p1	2134508	A1429S	both	benign	no known pathogenicity	reported (0.2324)
Non-transmitted coding sequence variants
^f TSC1	-	135800991	L116V	-	damaging	pathogenicity unknown	reported (0.0154)
TSC2	11780.fa	2122327	C728F	-	damaging	-	-
TSC2	11458.mo	2125886	P878S	-	damaging	-	-
TSC2	11303.mo	2127640	S960F	-	damaging	-	-
TSC2	11195.mo	2133801	T1330M	-	benign	pathogenicity unknown	-

^ap1: proband; fa: father; mo: mother.
^bcoordinates based on genome build hg19.
^camino acid position based on Swiss-Prot accession # Q92574.2 and P49815.2 for TSC1 and TSC2, respectively.
^dtuberous sclerosis database: Leiden Open Variation Database.
^eNHLBI exome variant server, Seattle, WA, USA. Values in parentheses denote minor allele frequency in percent.
^fidentified by next-generation sequencing but not tested by Sanger sequencing because it was previously reported.

ISSN: 2040-2392