Table 1 Previously described PRPF31 mutations in adRP patients.

Int1

c.1-2481G>T (formerly: IVS1+1G>T)

splice defect

[27]

incomplete

2

c.79G>T

p.Glu27X

[15]

Incomplete

Int2

c.177+1G>A

splice defect

[13]

[23]

Simplex

Simplex

3

c.220C>T

p.Gln74X2

[13]

Simplex

4

c.319C>G

p.Leu107Val (interferes with splice site leading to frameshift)

[23]

Simplex

Int4

c.323-2A>G

Splice defect

[23]

Simplex

5

c.331_342del

p.His111_Ile114del

[22]

High

5

c.358_359delAA

p.Lys120GlufsX122

[9]

Simplex

5

c.390delC

p.Asn131MetfsX67 (formerly p.Asn131fs7ter197)

[13]

segregates in 3 affected

5

c.413C>A (formerly c.412C>A)

p.Thr138Lys

[15]

Incomplete

Int5

c.421-1G>A

splice defect

[28]

Incomplete

6

c.421G>T

p.Glu141X

[13]

Simplex

Int6

c.527+1G>T

splice defect

[29]

Incomplete

Int6

c.527+1G>A

splice defect

[9]

Incomplete

Int6

c.527+3A>G

splice defect

[7, 16]

[15]

Incomplete

incomplete

Int6

c.528-1G>A

splice defect

[15]

not tested

Int6

c.528-3_45del (previous description: IVS6-3 to -45 del)

splice defect

[7, 12]

Incomplete

7

c.581C>A

p.Ala194Glu

[7]

Simplex

7

Formerly: 580-581dup33bp

formerly: in frame insertion of 11 amino acids

[7]

Simplex

7

c.636delG

p.Met212IlefsX27 (formerly: Met212fs/ter238)

[13]

segregates in 2 affected

7

c.646G>C

p.Ala216Pro

[7]

Incomplete

8

c.732_737delins20bp

p.Met244fsX248

[11]

segregated in 2 affected

8

c.758_767del

p.Gly253AlafsX65 (formerly: p.Gly253fs/ter317)

[13]

Simplex

8

c.769_770insA

p.Thr258AspfsX21 (formerly: frameshift, 20 novel amino acids then STOP) (formerly:Lys257fsX277)

[7]

[11]

Simplex

incomplete

8

c.785delT

p.Phe262SerfsX59

[10]

8

c.828_829delCA

p.His276GlnfsX2 (formerly p.His276fsX237)

[11]

Incomplete

Int8

c.856-2A>G

splice defect

[23]

segregated in 2 affected

9

c.871G>C

p.Ala291Pro

[13]

Simplex

9

c.877_910del

p.Arg293_Arg304>ValfsX17

[23]

Incomplete

9

c.895T>C

p.Cys299Arg

[13]

Incomplete

10

c.973G>T

p.Glu325X

[13]

Simplex

10/int10

1049_IVS10+20del/insCCCCT

splice defect

[13]

Simplex

Int10

c.1073+1G>A (Formerly:IVS10+1G>A)

splice defect

[13]

segregates in 5 affected

11

c.1115_1125del

p.Arg372GlnfsX99 (formerly: frameshift, 98 novel amino acids then STOP)

[7]

Incomplete

11

c.1142delG

p.Gly381GlufsX32

[12]

Incomplete

Int11

c.1146+2T>C

Splice defect

[15]

Incomplete

12

c.1155_1159delGGACG/insAGGGATT

p.Asp386GlyfsX28

[12]

Incomplete

Int13

c.1374+654C>G

Splice defect

[19]

Incomplete

ex1/int1

indel ex1/int1

Loss of one copy of PRPF31

[14]

Incomplete

4-8

4.8 kb deletion

Loss of one copy of PRPF31

[14]

simplex

4-13

11.3 kb deletion

Loss of one copy of PRPF31

[14]

incomplete

PRPF31: 1-11, TFPT, NDUFA3, partly OSCAR

59 kb deletion

Loss of one copy of PRPF31

[30]

incomplete

PRPF31, TFPT, NDUFA3, partly OSCAR

32-42 kb deletion

Loss of one copy of PRPF31

[14]

simplex

PRPF31, TFPT, NDUFA3, OSCAR

> 44.8 kb deletion

Loss of one copy of PRPF31

[14]

simplex

PRPF31 without Stop codon, TFPT NDUFA3, promoter OSCAR

30 kb deletion

Loss of one copy of PRPF31

[31]

incomplete