Figure 3 of
Aguirre, Mol Vis 4:23, 1998.Figure 3 of
Aguirre, Mol Vis 4:23, 1998.
Figure 3. Canine RPE65, normal (wildtype) and csnb-mutant sequence
(A) Nucleotide (cDNA) and deduced amino acid sequences of canine RPE65 (wildtype allele). Nucleotides 487-490 (AAGA), shown in green, is the sequence deleted in the mutant allele. Nucleotides 417-442, and 523-499, shown in blue, are binding sites for primers RPE65-1 (forward) and RPE65-3 (reverse), respectively, used to amplify across the mutant site. The amino acids that differ from human sequence (codons 225, 262, 308, 322, 368, 395, 397, and 427) are shown in red. The "Start" (Met) and "Stop" (*) codons, nucleotides 28-30 and 1627-9, respectively, are shown in purple. The 5' and 3' UTRs (nucleotides 1-27 and 1630-1725, respectively) are shown with lower case letters.
1 cgaccgtctgtcctgccctgggagaca
Met Ser Ile Gln Val Glu His Pro Ala Gly Gly Tyr Lys Lys Leu Phe Glu Thr Val Glu 20
28 ATG TCC ATC CAA GTG GAG CAT CCC GCC GGC GGT TAC AAG AAG CTG TTT GAA ACC GTG GAA
Glu Leu Ser Ser Pro Leu Thr Ala His Val Thr Gly Arg Ile Pro Leu Trp Leu Thr Gly 40
88 GAG CTG TCG TCG CCG CTC ACC GCC CAC GTG ACA GGC AGG ATC CCG CTC TGG CTC ACG GGC
Ser Leu Leu Arg Cys Gly Pro Gly Leu Phe Glu Val Gly Ser Glu Pro Phe Tyr His Leu 60
148 AGT CTC CTC CGA TGC GGA CCG GGG CTC TTC GAG GTT GGA TCT GAA CCA TTT TAC CAC CTG
Phe Asp Gly Gln Ala Leu Leu His Lys Phe Asp Phe Lys Glu Gly His Val Thr Tyr His 80
208 TTT GAC GGA CAA GCC CTT CTG CAC AAG TTC GAC TTT AAA GAA GGA CAC GTC ACC TAT CAC
Arg Arg Phe Ile Arg Thr Asp Ala Tyr Val Arg Ala Met Thr Glu Lys Arg Ile Val Ile 100
268 AGA AGG TTC ATC CGC ACC GAT GCT TAC GTC CGG GCA ATG ACC GAG AAA AGG ATC GTC ATA
Thr Glu Phe Gly Thr Cys Ala Phe Pro Asp Pro Cys Lys Asn Ile Phe Ser Arg Phe Phe 120
328 ACG GAA TTT GGC ACC TGT GCG TTC CCA GAT CCC TGC AAG AAT ATA TTT TCC AGG TTT TTT
Ser Tyr Phe Arg Gly Val Glu Val Thr Asp Asn Ala Leu Val Asn Val Tyr Pro Val Gly 140
388 TCT TAC TTC CGA GGA GTG GAG GTC ACT GAC AAT GCC CTT GTT AAC GTC TAC CCA GTA GGG
Glu Asp Tyr Tyr Ala Cys Thr Glu Thr Asn Phe Ile Thr Lys Ile Asn Pro Glu Thr Leu 160
448 GAA GAT TAC TAC GCC TGC ACG GAG ACC AAC TTC ATT ACA AAG ATT AAT CCT GAG ACC CTG
Glu Thr Ile Lys Gln Val Asp Leu Cys Asn Tyr Val Ser Val Asn Gly Ala Thr Ala His 180
508 GAG ACA ATT AAG CAG GTT GAT CTC TGC AAC TAC GTC TCT GTC AAT GGA GCC ACC GCT CAC
Pro His Ile Glu Asn Asp Gly Thr Val Tyr Asn Ile Gly Asn Cys Phe Gly Lys Asn Phe 200
568 CCC CAC ATT GAA AAT GAT GGG ACT GTT TAC AAC ATT GGT AAT TGC TTT GGG AAA AAT TTT
Ser Ile Ala Tyr Asn Ile Val Lys Ile Pro Pro Leu Gln Ala Asp Lys Glu Asp Pro Ile 220
628 TCG ATT GCC TAC AAT ATT GTA AAG ATC CCT CCA CTC CAA GCA GAC AAG GAA GAT CCA ATA
Ser Lys Ser Glu Val Val Val Gln Phe Pro Cys Ser Asp Arg Phe Lys Pro Ser Tyr Val 240
688 AGC AAG TCC GAG GTC GTC GTA CAA TTC CCC TGC AGC GAC CGA TTC AAG CCA TCG TAC GTC
His Ser Phe Gly Leu Thr Pro Asn Tyr Ile Val Phe Val Glu Thr Pro Val Lys Ile Asn 260
748 CAT AGT TTT GGT TTG ACT CCC AAC TAT ATT GTT TTT GTG GAG ACG CCA GTC AAA ATT AAC
Leu Leu Lys Phe Leu Ser Ser Trp Ser Leu Trp Gly Ala Asn Tyr Met Asp Cys Phe Glu 280
808 CTG CTC AAG TTC CTT TCT TCG TGG AGT CTT TGG GGA GCC AAC TAC ATG GAT TGT TTT GAG
Ser Asn Glu Thr Met Gly Val Trp Leu His Ile Ala Asp Lys Lys Arg Lys Lys Tyr Leu 300
868 TCC AAT GAA ACC ATG GGG GTT TGG CTT CAC ATC GCT GAC AAA AAA AGA AAA AAG TAT CTC
Asn Asn Lys Tyr Arg Thr Ser Ser Phe Asn Leu Phe His His Ile Asn Thr Tyr Glu Asp 320
928 AAT AAT AAG TAC AGG ACC TCT TCC TTT AAT CTC TTC CAT CAT ATC AAT ACT TAC GAA GAC
Asn Glu Phe Leu Ile Val Asp Leu Cys Cys Trp Lys Gly Phe Glu Phe Val Tyr Asn Tyr 340
988 AAT GAG TTT CTG ATT GTG GAT CTC TGC TGC TGG AAA GGA TTT GAA TTC GTC TAC AAT TAC
Leu Tyr Leu Ala Asn Leu Arg Glu Asn Trp Glu Glu Val Lys Lys Asn Ala Arg Lys Ala 360
1048 TTG TAT TTA GCC AAT TTA CGT GAG AAC TGG GAA GAG GTG AAA AAA AAT GCC AGA AAG GCT
Pro Gln Pro Glu Val Arg Arg Ser Val Leu Pro Leu Asn Ile Asp Lys Ala Asp Thr Gly 380
1108 CCG CAG CCT GAA GTT AGG AGA TCC GTG CTT CCT TTG AAT ATC GAC AAG GCC GAC ACA GGC
Lys Asn Leu Val Thr Leu Pro Asn Thr Thr Ala Thr Ala Thr Leu Arg Ser Asp Glu Thr 400
1168 AAG AAC CTA GTC ACC CTT CCC AAC ACG ACG GCC ACT GCA ACT CTG CGC AGC GAC GAG ACC
Ile Trp Leu Glu Pro Glu Val Leu Phe Ser Gly Pro Arg Gln Ala Phe Glu Phe Pro Gln 420
1228 ATC TGG CTG GAA CCT GAG GTT CTC TTC TCA GGG CCT CGT CAA GCC TTT GAG TTT CCT CAA
Ile Asn Tyr Gln Lys Tyr Gly Gly Lys Pro Tyr Thr Tyr Ala Tyr Gly Leu Gly Leu Asn 440
1288 ATC AAC TAT CAG AAG TAT GGC GGG AAG CCT TAC ACG TAC GCG TAT GGA CTT GGC TTG AAT
His Phe Val Pro Asp Arg Leu Cys Lys Leu Asn Val Lys Thr Lys Glu Thr Trp Val Trp 460
1348 CAC TTC GTT CCG GAC AGG CTC TGC AAG CTG AAC GTC AAG ACT AAA GAA ACG TGG GTA TGG
Gln Glu Pro Asp Ser Tyr Pro Ser Glu Pro Ile Phe Val Ser His Pro Asp Ala Leu Glu 480
1408 CAA GAG CCC GAC TCA TAC CCA TCA GAA CCC ATC TTT GTT TCT CAC CCA GAT GCC TTG GAA
Glu Asp Asp Gly Val Val Leu Ser Val Val Val Ser Pro Gly Ala Gly Gln Lys Pro Ala 500
1468 GAA GAT GAT GGT GTA GTT CTG AGT GTG GTG GTG AGC CCT GGG GCA GGA CAA AAG CCT GCT
Tyr Leu Leu Ile Leu Asn Ala Lys Asp Leu Ser Glu Val Ala Arg Ala Glu Val Glu Ile 520
1528 TAT CTT CTG ATT CTG AAT GCC AAG GAT TTG AGT GAA GTT GCC AGG GCT GAA GTG GAG ATT
Asn Ile Pro Val Thr Phe His Gly Leu Phe Lys Lys Ser * 533
1588 AAC ATC CCT GTC ACC TTT CAT GGA CTG TTC AAA AAA TCC TAA gtacattctagcaaattatattt
1653 ctattgacaaagtcaagaaaaagtgaggtctgcaatcaaattctgttcaattttagcctgctgtattacagg
|
(B) Deduced amino acid sequence of canine mutant RPE65. Amino acids that differ from wildtype sequence are shown in red.
1 Met Ser Ile Gln Val Glu His Pro Ala Gly Gly Tyr Lys Lys Leu Phe Glu Thr Val Glu 20 21 Glu Leu Ser Ser Pro Leu Thr Ala His Val Thr Gly Arg Ile Pro Leu Trp Leu Thr Gly 40 41 Ser Leu Leu Arg Cys Gly Pro Gly Leu Phe Glu Val Gly Ser Glu Pro Phe Tyr His Leu 60 61 Phe Asp Gly Gln Ala Leu Leu His Lys Phe Asp Phe Lys Glu Gly His Val Thr Tyr His 80 81 Arg Arg Phe Ile Arg Thr Asp Ala Tyr Val Arg Ala Met Thr Glu Lys Arg Ile Val Ile 100 101 Thr Glu Phe Gly Thr Cys Ala Phe Pro Asp Pro Cys Lys Asn Ile Phe Ser Arg Phe Phe 120 121 Ser Tyr Phe Arg Gly Val Glu Val Thr Asp Asn Ala Leu Val Asn Val Tyr Pro Val Gly 140 141 Glu Asp Tyr Tyr Ala Cys Thr Glu Thr Asn Phe Ile Thr Leu Ile Leu Arg Pro Trp Arg 160 161 Gln Leu Ser Arg Leu Ile Ser Ala Thr Thr Ser Leu Ser Met Glu Pro Pro Leu Thr Pro 180 181 Thr Leu Lys Met Met Gly Leu Phe Thr Thr Leu Val Ile Ala Leu Gly Lys Ile Phe Arg 200 201 Leu Pro Thr Ile Leu Stop 205 |