Table 2 of
Mordes, Mol Vis 2006;
12:1259-1271.Table 2 of
Mordes, Mol Vis 2006;
12:1259-1271.
Table 2. Pre-mRNA splicing factors and the mutations that caused autosomal dominant retinitis pigmentosa
Pre-mRNA splicing factor genes that are associated with adRP are listed, including pre-mRNA processing factor (PRPF) PRPF31, PRPF8, PRPF3, and PAP1 (Pim-1 kinase associated protein 1). Their chromosomal localization and mutations identified in RP patients are described.
Mutation
Name Chromosome sites Mutations
------- -------------- -------- --------------------------------------------
PRPF31 19q13.33-13.43 Exon 5 12 bp deletion, (H111K112F113I114)
(PRP31,
RP11) Intron 5 IVS5-1G to A, aberrant splicing
Exon 6 1 bp deletion, frame-shift
Intron 6 RP677; IVS6-3 to -45 deletion; aberrant
splicing
Intron 6 RP1907; IVS6+3A to G; aberrant splicing
Exon 7 AD29; 646G to C, A216P
Exon 7 SP14; 33 bp duplication at nucleotide
580-581; 11 aa inframe insertion
Exon 7 SP42; 581C to A, A194E
Exon 8 SP117; 1 bp insertion at 769-770; frameshift
after amino acid residue 256
Exon 11 AD5; 11 bp deletion, frameshift after amino
acid residue 371
PRPF8, 17p13.3 Exon 42 6942C to A, P2301T
(PRPC8,
PRP8, Exon 42 6953C to G, F2304L
RP13)
Exon 42 6967A to C, H2309P
Exon 42 6967A to G, H2309R
Exon 42 6969A to G, R2310G
Exon 42 6970G to A, R2310K
Exon 42 6983C to A, F2314L
Exon 42 6 bp deletion with 11 bp insertion at
nucleotides 6972 to 6977, frameshift
PRPF3 1p13-q21 Exon 11 1478 C to T, P493S
(HPRP3,
PRP3 Exon 11 1482 C to T, T494M
RP18)
PAP1 7p14.2 Exon 5 410A to T, H137L
(RP9)
Exon 6 509A to G, D170G
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