Exon/Intron | Nucleotide Exchange | Protein Effect | Publication | Information about penetrance |
---|---|---|---|---|
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 | [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 | 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 |