. Author manuscript; available in PMC: 2009 Aug 1.

Published in final edited form as: Nat Med. 2008 Jul 6;14(8):875–881. doi: 10.1038/nm.1719

Table 1.

Summary of the functional assay results and available epidemiological and sequence conservation data.

Nucleotide change	Predicted AA change	Entries in BIC database^a	Evolutionary conservation^b	Co-occurance with additional deleterious mutations^c	Co-segregation excluded in No. of families^c	Cell viability	Sensitivity to DNA damaging drugs	Pathogenic effect
Truncations (5):
279delAC	stop29	5	−	N/D	N/D	No	N/A	Deleterious
6174delT	stop2003	1087	−	N/D	N/D	No	N/A	Deleterious
10152 C>G	Y3308X	13	++	N/D	N/D	Reduced	Sensitive	Deleterious
10153 G>T	E3309X	1	−	N/D	N/D	Reduced	Sensitive	Deleterious
10204 A>T	K3326X	293	−	N/D	N/D	Yes	No	Neutral

Splice Variant (1):
8393 C >G	T2722R	4	++++	0	0/1	No	N/A	Deleterious

Point mutations (11):
353 A>G	Y42C	170^c	+++	9/170	9/16	Yes	No	Neutral
3199 A>G	N991D	3357^c	−	65/3357	N/D	Yes	No	Neutral
4486 G>T	D1420Y	191	+	22/508	N/D	Yes	No	Neutral
8216 A> T	E2663V	9	++++	0/8	0/2	No	N/A	Deleterious
8395 G>C	D2723H	37	++++	0/30	0/13	No	N/A	Deleterious
8410 G>A	V2728I	256^c	+	9/256	N/D	Yes	No	Neutral
8795 A>C	E2856A	185	+++	0/148	16/26	Yes	No	Neutral
8930 A>A	G2901D	2	++++	2/2	0/0	Yes	No	Neutral
9190 A>G	S2988G	1	+++	N/D	N/D	Yes	No	Neutral
9382 C> T	R3052W	8	++++	N/D	N/D	No	N/A	Deleterious

N/A, not applicable; N/D, not determined. Number in parenthesis indicates the total number of mutations analyzed for each mutation category.