Table1 of Singh, Mol Vis 2016; 22:1036-1047.

Table1. List of mutations in the RB1 gene, identified in patients with Retinoblastoma (Rb).

Patient No. Exon/ Intron Type of mutation c.DNA Amino acid change Rb presentation Reference/ Novel
RB1 Ex 1 Indel c.46_68delGCCGCCGCGGAACCCCCGGCACC - Unilateral Novel
RB2 Ex 2 Indel c.178_182delTTATG p.Leu60SerfsTer48 Bilateral 8651278b
RB3 Ex 4 Indel c.400_407delTTACTAAA p.Leu134ArgfsTer3 Bilateral Novel
RB4 Int 5 SS c.539+1G>A - Unilateral 10991691 b
RB5 Ex 6 Indel c.540-6_545delTAATAGGATATC - Bilateral Novel
RB6 Ex 8-11 LD c.719-2574_1127+678delinsC p.Lys240ArgfsTer3 Unilateral Novel
RB7 Ex 8 NS c.751C>T p.Arg251Ter Bilateral 20447117 b
RB8 Int 9 SS c.940-1G>A - Bilateral Novel
RB9 Ex 11 NS c.1072C>T p.Arg358Ter Bilateral rs121913301a
RB10 Int 12 SS c.1215+1G>A - Bilateral rs587776783 a
RB11 Ex 13 Indel c.1281delA p.Glu428ArgfsTer29 Unknown Novel
RB12 Ex 14 NS c.1333C>T p.Arg445Ter Unilateral rs121913302 a
RB13 Ex 14 NS c.1363C>T p.Arg455Ter Unilateral rs121913302 a
RB14 Ex 14 NS c.1363C>T p.Arg455Ter Unknown rs121913302 a
RB15 Ex 14 NS c.1363C>T p.Arg455Ter Bilateral rs121913302a
RB16 Int 15 Indel c.1421+5_1421+17delTTTTTTACTTTT - Bilateral Novel
RB17 Ex 17 NS c.1654C>T p.Arg552Ter Bilateral 25742471 b
RB18 Ex 17 MS c.1689G>C p.Trp563Cys Unknown 15605413 b
RB19 Int 17 SS c.1696-3T>G p.Asp566ArgfsTer45 Bilateral Novel
RB20 Ex 18 NS c.1723C>T p.Gln575Ter Bilateral rs587778864 a
RB21 Ex 18 NS c.1735C>T p.Arg579Ter Bilateral rs121913305 a
RB22 Ex 18 NS c.1735C>T p.Arg579Ter Bilateral rs121913305 a
RB23 Ex 19 Indel c.1953T > TA p.K653fs Bilateral Novel
RB24 Ex 19 Indel c.1959_1960dupA p.Val654SerFsTer14 Bilateral 15605413 b
RB25 Ex 20 MS c.2104C>A p.Gln702Lys Bilateral 12541220 b
RB26 Ex 21 MS c.2134T>C p.Cys712Arg Unilateral 9671401 b, 10486322 b
RB27 Int 22 SS c.2325+1G>A - Unknown 15884040 b
RB28 Ex 23 NS c.2359C>T p.Arg787Ter Bilateral rs137853293 a
RB29# Ex 24-27 LD c.(2479+1_2490-1)_(2787+1_2788-1)del - Bilateral Novel
RB30 Ex 25 LD c.(2520+1_2521-1)_(2663+1_2664_1)del - Bilateral Novel
RB31 Ex 25_27* LD c.2643_(*1915+3849)del - Bilateral Novel
RB32 - WGD c.(?_-166)_(*1819_?)del - Unknown cUnknown
RB33 - WGD c.(?_-166)_(*1819_?)del - Bilateral cUnknwon

Abbreviations: Indel: small insertion or deletion, LD: Large deletion, MS: Missense, NS: Nonsense, SS: Splice site, WGD: Whole gene deletion, adbSNP database, bPMID, *Partial deletion of exon 25 with complete deletion of exons 26 and 27, c Breakpoints not known, #All LD and WGD except in the RB29 sample were confirmed by MLPA (Multiplex Ligation-dependent Probe Amplification).

Singh, Mol Vis 2016; 22:1036-1047. http://www.molvis.org/molvis/v22/1036

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