Catalogue of Somatic Mutations in Cancer

FILTER
Mutation Type
Deletion
Frameshift
Inframe
Insertion
Frameshift
Inframe
Substitution
Nonsense
Missense
Synonymous
Complex

Sample Source
Cultured Sample
Tumour Sample

Somatic Status
Confirmed Somatic
Previously Reported
Variant of unknown origin

Systematic Screen
From Systematic Screen

Distribution of somatic mutations in RB1

Navigation

Gene: AA to
Sequence Type: cDNA Amino Acid

There are 113 additional mutations not displayed in the above image, as they are without positional information.


Mutation Type	Number	Percentage	Mutation Data
Deletion Frameshift	50	16.9 %	More Details
Deletion Inframe	3	1.0 %	More Details
Insertion Frameshift	17	5.8 %	More Details
Insertion Inframe	1	0.3 %	More Details
Substitution Nonsense	84	28.5 %	More Details
Substitution Missense	26	8.8 %	More Details
Substitution Synonymous	4	1.4 %	More Details
Complex	5	1.7 %	More Details
Other	105	35.6 %	More Details
Total	295	100%	More Details


Sample Source	Number	Percentage	Source Data
Cultured Sample	135	47.4 %	More Details
Tumour Sample	147	51.6 %	More Details
NS	3	1.1 %	More Details
Total	285	100%	More Details

Substitutions
Position	Mutation(n)
14	p.A14A(1)
31	p.E31*(1)
54	p.E54*(2)
61	p.C61*(1)
62	p.Q62*(1)
75	p.W75*(1)
78	p.W78*(1)
82	p.S82*(2)
86	p.G86*(1)
112	p.E112*(1)
114	p.S114*(1)
122	p.K122K(1)
126	p.I126S(1)
127	p.S127I(1)
137	p.E137*(2)
138	p.I138S(1)
150	p.R150*(1)
158	p.L158*(1) p.L158S(1)
166	p.E166*(1)
187	p.S187T(1)
199	p.L199*(3)
208	p.M208V(1)
215	p.S215*(1)
217	p.Q217*(1)
251	p.R251*(3)
255	p.R255*(1)
265	p.K265*(1)
320	p.R320*(8)
321	p.Y321*(1)
323	p.E323*(1)
325	p.Y325(1) p.Y325(1)
328	p.N328H(1)
344	p.Q344*(1)
358	p.R358*(3)
383	p.Q383*(1)
388	p.I388S(1)
389	p.L389*(1)
395	p.Q395*(2)
440	p.E440*(1)
444	p.Q444H(1)
445	p.R445*(2)
455	p.R455*(7)
467	p.R467*(1)
471	p.Q471*(1)
474	p.S474N(1)
489	p.C489*(1)
498	p.Y498*(1)
504	p.Q504*(1)
515	p.P515L(1)
533	p.E533*(1)
552	p.R552*(5)
556	p.R556*(4)
567	p.S567*(1)
576	p.S576*(1)
579	p.R579*(4)
590	p.C590C(1)
612	p.S612P(1)
621	p.R621S(1)
654	p.V654L(1)
659	p.Y659F(1)
661	p.R661W(2)
673	p.H673P(1)
685	p.Q685*(2)
688	p.L688P(1)
702	p.Q702*(2)
704	p.M704V(1)
706	p.C706F(3)
715	p.K715*(2)
718	p.D718N(1)
720	p.K720*(1)
748	p.E748*(3)
754	p.V754G(2)
756	p.Y756*(1)
787	p.R787*(2)
794	p.S794I(1)
798	p.R798W(1)
801	p.G801*(1)
829	p.S829*(1)
834	p.S834*(1)
839	p.F839F(1)
850	p.Q850*(1)

Insertions
Position	Mutation(n)
70	p.V70fs*39(1)
182	p.S182fs*3(1)
195	p.W195fs*8(1)
203	p.G203fs8(1) p.G203fs9(1)
324	p.I324fs*4(1)
424	p.Y424fs*4(1)
472	p.N472_F473insK(1)
480	p.N480fs*13(1)
496	p.A496fs*4(1)
529	p.Y529fs*26(1)
572	p.L572fs*2(1)
606	p.Y606fs*47(1)
654	p.V654fs*6(1)
689	p.Q689fs(1)
720	p.K720fs*30(1)
748	p.E748fs(1)
770	p.Q770fs*24(1)

Deletions
Position	Mutation(n)
	p.?fs(1)
16	p.A16fs*3(1)
21	p.P21fs*5(1)
39	p.P39fs*26(1)
42	p.L42fs*23(1)
73	p.R73fs*36(1)
76	p.L76fs*1(1)
77	p.T77fs*34(1)
112	p.E112fs*6(1)
116	p.T116fs*8(1)
123	p.T123fs*12(1)
134	p.L134fs*1(1)
204	p.E204fs*10(1)
216	p.F216fs*3(1)
257	p.Q257fs*12(1)
258	p.N258fs*6(1)
267	p.L267fs*3(1)
389	p.L389fs*3(1)
397	p.S397fs1(1) p.S397fs1(1)
406	p.N406fs*4(1)
412	p.K412fs*5(1)
418	p.R418fs*2(1)
483	p.H483fs*9(1)
484	p.M484fs*8(1)
486	p.L486fs*6(1)
513	p.S513fs*9(1)
529	p.Y529fs*3(1)
575	p.Q575fs*35(1)
579	p.R579fs*29(1)
617	p.G617fs*6(1)
647	p.L647fs*5(2)
654	p.V654fs*4(1)
660	p.L660fs*2(3)
661	p.R661fs*1(1)
676	p.L676fs*16(2)
677	p.E677fs*19(1)
684	p.F684fs*12(1)
693	p.E693fs*3(2)
695	p.M695fs*10(1)
703	p.I703_E737del(2)
712	p.C712_A727del(1)
748	p.E748fs*6(1)
761	p.M761fs*4(1)
777	p.P777fs*33(1)
782	p.I782fs*28(1)
808	p.P808fs*12(1)
830	p.R830fs*8(1)
832	p.L832fs*1(1)
840	p.G840fs*9(1)

Complex
Position	Mutation(n)
162	p.F162fs*13(1)
240	p.K240_A242>T(1)
502	p.T502fs*22(1)
769	p.L769fs*2(1)
896	p.K896_F897>I(1)

Fusion Mutations
Mutation(n)
No Fusion Mutations in Current Selection

Other Mutations
Position	Mutation(n)
	p.?(1) p.?(2) p.?(3) p.?(3) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(3) p.?(1) p.?(1) p.?(5) p.?(2) p.?(1) p.?(1) p.?(2) p.?(1) p.?(1) p.?(2) p.?(1) p.?(1) p.?(3) p.?(3) p.?(1) p.?(1) p.?(1) p.?(3) p.?(1) p.?(1) p.?(1) p.?(1) p.?(3) p.?(12) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(2) p.?(1) p.?(1) p.?(4) p.?(2) p.?(1) p.?(5) p.?(1) p.?(1) p.?(2) p.?(1) p.?(2) p.?(1) p.?(2) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?(1) p.?_?ins?(1)

Details for RB1
Primary Tissue	Unique Mutated Samples	% Mutated	Total Unique Samples	Mutation Data
NS	0	0%	12	More Details
adrenal gland	1	50%	2	More Details
autonomic ganglia	0	0%	37	More Details
biliary tract	1	17%	6	More Details
bone	13	12%	111	More Details
breast	12	16%	77	More Details
central nervous system	34	10%	340	More Details
cervix	2	3%	64	More Details
endometrium	4	31%	13	More Details
eye	78	48%	164	More Details
gastrointestinal tract (site indeterminate)	1	100%	1	More Details
haematopoietic and lymphoid tissue	14	4%	393	More Details
kidney	1	2%	44	More Details
large intestine	0	0%	77	More Details
liver	3	10%	31	More Details
lung	80	15%	535	More Details
meninges	0	0%	1	More Details
oesophagus	1	4%	23	More Details
ovary	4	11%	36	More Details
pancreas	0	0%	26	More Details
parathyroid	0	0%	6	More Details
pituitary	1	3%	29	More Details
placenta	0	0%	2	More Details
pleura	0	0%	13	More Details
prostate	6	8%	71	More Details
salivary gland	0	0%	10	More Details
skin	4	6%	70	More Details
small intestine	0	0%	1	More Details
soft tissue	8	8%	103	More Details
stomach	2	10%	21	More Details
testis	0	0%	4	More Details
thyroid	0	0%	12	More Details
upper aerodigestive tract	0	0%	47	More Details
urinary tract	15	29%	52	More Details
vulva	0	0%	3	More Details
Totals	285	12%	2437	More Details

webmaster@sanger.ac.uk

Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK Tel:+44 (0)1223 834244

Last Modified Mon Sep 18 17:13:20 2006

Genome Research Limited is a charity registered in England with number 1021457