RPGRIP According to Refseq NG 008933.1 and 1 Sequence Deviates by 27 Amino Acids (240 267)

Last update: 23.03.2014

RPGRIP according to RefSeq NG_008933.1 and [1] – Sequence deviates by 27 amino acids (240 – 267) from sequence published by [2] and includes 384 additional aminoacids compared to [3].

Nucleotide numbering

Aminoacid numbering

Sequence variations (Polymorphism, uncertain pathology, LCA, RP (ARRP, single), Glaucoma (POAG, JOAG, NTG), CRD

D: not published in [2]

R: Translation start in [3]

-890 -880 -870 -860 -850 -840 -830

agaag aaaag aaaga gatga aaaaa agaga aagag gccag gtgtg gtggc tcacg cctgt aatcc caaca ctttg

tcttc ttttc tttct ctact ttttt tctct ttctc cggtc cacac caccg agtgc ggaca ttagg gttgt gaaac

-820 -810 -800 -790 -780 -770 -760 -750

ggagg ccgag gcggg cagat cacct aaagt cagga gtcca agacc agttt tgcca acatg gcaaa accct atctc

cctcc ggctc cgccc gtcta gtgga tttca gtcct caggt tctgg tcaaa acggt tgtac cgttt tggga tagag

-740 -730 -720 710 -700 -690 -680

tacca aaaat acaaa aatta gccgg gtgca gtagt gggtg cctgt aatcc cggct agact ggata ctatc atcca

atggt tttta tgttt ttaat cggcc cacgt catca cccac ggaca ttagg gccga tctga cctat gatag taggt

-670 -660 -650 -640 -630 -620 -610 -600

ggaaa aaaag tgttg gccag agtat gaggc aactc tatag acagg atttc ctgat tattc aggcc acaga gctga

ccttt ttttc acaac cggtc tcata ctccg ttgag atatc tgtcc taaag gacta ataag tccgg tgtct cgact

-590 -580 -570 -560 -550 -540 -530

atatg gtcat ttcag agctc ccaag tttac atagt agttc tagcc atccc cagag gctaa tttaa acttc tcagt

tatac cagta aagtc tcgag ggttc aaatg tatca tcaag atcgg taggg gtctc cgatt aaatt tgaag agtca

-520 -510 -500 -490 -480 -470 -460 -450

tttat tttca acctc ctagg agata gaatc tgatt ggttc agcga gggtc atttg tcttg ggtca ttcga ttaac

aaata aaagt tggag gatcc tctat cttag actaa ccaag tcgct cccag taaac agaac ccagt aagct aattg

-440 -430 -420 -410 -400 -390 -380

cctgg tccaa tcagc aatgg cttcg gggac tggat tgtag gctat aaact gattc ctggg gagtc agtcc ctgta

ggacc aggtt agtcg ttacc gaagc ccctg accta acatc cgata tttga ctaag gaccc ctcag tcagg gacat

-370 -360 -350 -340 -330 -320 -310 -300

aattg agtgg agaga gggat agagg cctat ttcgc agaga aaagg gatgg tcatc ggctt ccagg ctgag cagac

ttaac tcacc tctct cccta tctcc ggata aagcg tctct tttcc ctacc agtag ccgaa ggtcc gactc gtctg

-290 -280 -270 -260 -250 -240 -230

actta aaaaa atgat ccgaa atgat atcca tcaat tccat aatca taaaa actga ttttc atttt ggatc aagtc

tgaat ttttt tacta ggctt tacta taggt agtta aggta ttagt atttt tgact aaaag taaaa cctag ttcag

-220 -210 -200 -190 -180 -170 -160 -150

attcc tactg aatac ttgtt gttac tcttt agtgt agagt tgtcc acact accat gagaa tgact ctgac atgtc

taagg atgac ttatg aacaa caatg agaaa tcaca tctca acagg tgtga tggta ctctt actga gactg tacag

-140 -130 -120 -110 -100 -90 -80

atata ccatc atgaa agtgc tgaga aattc ctgct acaac ttatg tacac gtttc agaag acatc ctaaa gttgc

tatat ggtag tactt tcacg actct ttaag gacga tgttg aatac atgtg caaag tcttc tgtag gattt caacg

-70 -60 -50 -40 -30 -20 -10 1

atgta actga ctgga ctttt ccttt atttc agtgt cctct gggat ctctt acagc ttggg aacag agatc ATG

tacat tgact gacct gaaaa ggaaa taaag tcaca ggaga cccta gagaa tgtcg aaccc ttgtc tctag TAC

Met

M

1

15 30 45 60

TCA CAT CTG GTG GAC CCT ACA TCA GGA GAC TTG CCA GTT AGA GAC ATA GAT GCT ATA CCT CTG GTG

AGT GTA GAC CAC CTG GGA TGT AGT CCT CTG AAC GGT CAA TCT CTG TAT CTA CGA TAT GGA GAC CAC

Ser His Leu Val Asp Pro Thr Ser Gly Asp Leu Pro Val Arg Asp Ile Asp Ala Ile Pro Leu Val

S H L V D P T S G D L P V R D I D A I P L V

5 10 15 20

75 85

CTA CCA GCC TCA AAA G gtaac ttcta cgcct gagga tggac acctt ttaga attaa aagaa ctctc actgt

GAT GGT CGG AGT TTT C cattg aagat gcgga ctcct acctg tggaa aatct taatt ttctt gagag tgaca

Leu Pro Ala Ser Lys Gly

L P A S K G

25 29

ggaac atctt gctgg ccttc acaga gactg attta ctttc agctc ttttc ttcag tcttc tcact ttttt ttttt

ccttg tagaa cgacc ggaag tgtct ctgac taaat gaaag tcgag aaaag aagtc agaag agtga aaaaa aaaaa

ttttt ttgag atgga gtctc gctct gtcac ccagg ctgga gcaca gtggc acaat ctcag ctcac tgcag cctcc

aaaaa aactc tacct cagag cgaga cagtg ggtcc gacct cgtgt caccg tgtta gagtc gagtg acgtc ggagg

gactc ctggg ttcaa gcaat tctcc tgtct tagcc tccca agtag caggg attac aggcg tgcac cacca tgcct

ctgag gaccc aagtt cgtta agagg acaga atcgg agggt tcatc gtccc taatg tccgc acgtg gtggt acgga

ggcta gtttt gggat tttta gtaga gacaa gtttt cacca tgatg gccag gctgg tctca aattc ctgac ctcaa

ccgat caaaa cccta aaaat catct ctgtt caaaa gtggt actac cggtc cgacc agagt ttaag gactg gagtt

IVS 1

ctcat ggcaa cctct gcctc ccagg ctcaa gcaat tctcc tgcct cagcc tcctg agtag ctggg attac aggca

gagta ccgtt ggaga cggag ggtcc gagtt cgtta agagg acgga gtcgg aggac tcatc gaccc taatg tccgt

cgtgc cacca cgccc agcta atttt gtatt tttag tagag accgg gtttc accat gttgg tcagg ctgga ctcga

gcacg gtggt gcggg tcgat taaaa cataa aaatc atctc tggcc caaag tggta caacc agtcc gacct gagct

actcc tgacc tcaca atctg cctgc ctcag cttcc caaag tgctg ggatt acagg tgtga gccac tgcgc ctggc

tgagg actgg agtgt tagac ggacg gagtc gaagg gtttc acgac cctaa tgtcc acact cggtg acgcg gaccg

ccaga gtcat ttctc atact tcctg atttc ctcat aaata cttga ctcaa gatag attta tgctc tctgg acaag

ggtct cagta aagag tatga aggac taaag gagta tttat gaact gagtt ctatc taaat acgag agacc tgttc

atgtg atgag acatc taaag ggttc aaaaa atagg tgtaa aaata ctgtc cattt actgt tttct gggac tttag

tacac tactc tgtag atttc ccaag ttttt tatcc acatt tttat gacag gtaaa tgaca aaaga ccctg aaatc

A=Leu (17)

86 90 | 105 120 135 150

GT AAG AAT ATG AAA ACT CAA CCA CCC TTG AGC AGG ATG AAC CGG GAG GAA TTG GAG GAC AGT TTC

CA TTC TTA TAC TTT TGA GTT GGT GGG AAC TCG TCC TAC TTG GCC CTC CTT AAC CTC CTG TCA AAG

Gly Lys Asn Met Lys Thr Gln Pro Pro Leu Ser Arg Met Asn Arg Glu Glu Leu Glu Asp Ser Phe

G K N M K T Q P P L S R M N R E E L E D S F

29 30 35 40 45 50

T=ter (24) A=ter (2)

| 165 180 | 210

TTT CGA CTT CGC GAA GAT CAC ATG TTG GTG AAG GAG CTT TCT TGG AAG CAA CAG GAT GAG ATC AAA

AAA GCT GAA GCG CTT CTA GTG TAC AAC CAC TTC CTC GAA AGA ACC TTC GTT GTC CTA CTC TAG TTT

Phe Arg Leu Arg Glu Asp His Met Leu Val Lys Glu Leu Ser Trp Lys Gln Gln Asp Glu Ile Lys

F R L R E D H M L V K E L S W K Q Q D E I K

55 60 65 70

218

AG gtact tagag ttctc cttaa atttt ttttt ttttt ttttt ttttt ttttt tttga gacgg agcct tgctc

TC catga atctc aagag gaatt taaaa aaaaa aaaaa aaaaa aaaaa aaaaa aaact ctgcc tcgga acgag

Arg

R

73

tgttg cccag gctgg aatgc agtgg catga tcttg gctca ctgca acctc cgcct ccaga ttcaa gcaat tctcc

acaac gggtc cgacc ttacg tcacc gtact agaac cgagt gacgt tggag gcgga ggtct aagtt cgtta agagg

tgccc cagcc tccca agtag ctggg attat aggca tgcgt cacca tgccc agcta attta gtatt tttaa gtaga

acggg gtcgg agggt tcatc gaccc taata tccgt acgca gtggt acggg tcgat taaat cataa aaatt catct

gatgg ggatt cgcca tgttg gccag gttgg tcttg aactc ctgac ctcag atgat gcacc cacct cggcc tccca

ctacc cctaa gcggt acaac cggtc caacc agaac ttgag gactg gagtc tacta cgtgg gtgga gccgg agggt

aagtg ctggg tttac agatg cgagc cactc tgccc ggccc aaaaa taatt tttga agcaa tattt cttta gtcaa

ttcac gaccc aaatg tctac gctcg gtgag acggg ccggg ttttt attaa aaact tcgtt ataaa gaaat cagtt

IVS 2

atttg gagca catat acagg ggtgt gtaga caagt gggat agaaa aagca aatat taaaa ttgtt attta tattt

taaac ctcgt gtata tgtcc ccaca catct gttca cccta tcttt ttcgt ttata atttt aacaa taaat ataaa

gtcac ccatt taaac ataca tattt tgttt tataa tgaca attta ttagt acaaa aacaa gtcta tatat aattt

cagtg ggtaa atttg tatgt ataaa acaaa atatt actgt taaat aatca tgttt ttgtt cagat atata ttaaa

tttta aatgc acaca aatac tattg gggta gtggc tcaac ttttt ttttt ttttt ttttt ttttt ttact aagat

aaaat ttacg tgtgt ttatg ataac cccat caccg agttg aaaaa aaaaa aaaaa aaaaa aaaaa aatga ttcta

aaggg tgtaa tcact gcaat aaaat aaaga caggt atcac aatgg ccctg ccctc aaaga gttac agtgt actgg

ttccc acatt agtga cgtta tttta tttct gtcca tagtg ttacc gggac gggag tttct caatg tcaca tgacc

ggaca gaagg ctaat ctttt taaag tgtgg ttaat agatc acggt agatg aatac atatt ataga tcaat tcgtg

cctgt cttcc gatta gaaaa atttc acacc aatta tctag tgcca tctac ttatg tataa tatct agtta agcac

attat atgtc ccaaa taacc cgtag aaata ataac tgtca tgaaa ggaga agcca cgtgc tctat ttgtc cacag

taata tacag ggttt attgg gcatc tttat tattg acagt acttt cctct tcggt gcacg agata aacag gtgtc

T=Trp (2)

219 225 240 255 | 270

G CTG AGG ACC ACC TTG CTG CGG TTG ACC GCT GCT GGC CGG GAC CTG CGG GTC GCG GAG GAG GCG

C GAC TCC TGG TGG AAC GAC GCC AAC TGG CGA CGA CCG GCC CTG GAC GCC CAG CGC CTC CTC CGC

Arg Leu Arg Thr Thr Leu Leu Arg Leu Thr Ala Ala Gly Arg Asp Leu Arg Val Ala Glu Glu Ala

R L R T T L L R L T A A G R D L R V A E E A

73 75 80 85 90

A=Gln (2)

285 | 300 315 330 345

GCG CCG CTC TCG GAG ACC GCA AGG CGC GGG CAG AAG GCG GGA TGG CGG CAG CGC CTC TCC ATG CAC

CGC GGC GAG AGC CTC TGG CGT TCC GCG CCC GTC TTC CGC CCT ACC GCC GTC GCG GAG AGG TAC GTG

Ala Pro Leu Ser Glu Thr Ala Arg Arg Gly Gln Lys Ala Gly Trp Arg Gln Arg Leu Ser Met His

A P L S E T A R R G Q K A G W R Q R L S M H

95 100 105 110 115

G=Arg (17)

360 375 390 |

CAG CGC CCC CAG ATG CAC CGA CTG CAA GGG CAT TTC CAC TGC GTC GGC CCT GCC AGC CCC CGC CGC

GTC GCG GGG GTC TAC GTG GCT GAC GTT CCC GTA AAG GTG ACG CAG CCG GGA CGG TCG GGG GCG GCG

Gln Arg Pro Gln Met His Arg Leu Gln Gly His Phe His Cys Val Gly Pro Ala Ser Pro Arg Arg

Q R P Q M H R L Q G H F H C V G P A S P R R

120 125 130 135

420 435 450 465 480

GCC CAG CCT CGC GTC CAA GTG GGA CAC AGA CAG CTC CAC ACA GCC GGT GCA CCG GTG CCG GAG AAA

CGG GTC GGA GCG CAG GTT CAC CCT GTG TCT GTC GAG GTG TGT CGG CCA CGT GGC CAC GGC CTC TTT

Ala Gln Pro Arg Val Gln Val Gly His Arg Gln Leu His Thr Ala Gly Ala Pro Val Pro Glu Lys

A Q P R V Q V G H R Q L H T A G A P V P E K

140 145 150 155 160

490

CCC AAG AGG G gtgag attta aggct acatc cccta caggg ctaag acact gggaa ggact gatgt gccag

GGG TTC TCC C cactc taaat tccga tgtag gggat gtccc gattc tgtga ccctt cctga ctaca cggtc

Pro Lys Arg Gly

P K R G

164

ccacg ttttc ctcac tgcct tcttc tgccc accac cccat tttgt tcttt tgttc tcact ccctc ctttc tgcct

ggtgc aaaag gagtg acgga agaag acggg tggtg gggta aaaca agaaa acaag agtga gggag gaaag acgga

cccta aaatc tttat ttcct gagtt gggat atcag attca aaatt ctaaa ttcac catgg agtgt cgctg agggc

gggat tttag aaata aagga ctcaa cccta tagtc taagt tttaa gattt aagtg gtacc tcaca gcgac tcccg

agaat cagac aacag gtcag gagat ggaga ccatc cttgt ccaac atggt gaaac cccgt ctcta ataaa aatac

tctta gtctg ttgtc cagtc ctcta cctct ggtag gaaca ggttg tacca ctttg gggca gagat tattt ttatg

aaaaa ttagc tgggc atggt ggcgc gcacc tgtag tccca gttat tcgag agatt gaggc aggag aatca cttga

ttttt aatcg acccg tacca ccgcg cgtgg acatc agggt caata agctc tctaa ctccg tcctc ttagt gaact

actcg ggagg cggag gttgc agtga gctga gattg cacca ctgca gtcca gcctg gcgac agagc gagac tctgt

tgagc cctcc gcctc caacg tcact cgact ctaac gtggt gacgt caggt cggac cgctg tctcg ctctg agaca

ctcaa aataa taata ataat aataa taata ataat aataa taata ataat aaaaa attag ccaag cctgg tggca

gagtt ttatt attat tatta ttatt attat tatta ttatt attat tatta ttttt taatc ggttc ggacc accgt

catgc ctgca gtccc accta cttgg gaagc tgatg tggga ggatc gcttg agcct gggag gcgga ggctg cagtg

gtacg gacgt caggg tggat gaacc cttcg actac accct cctag cgaac tcgga ccctc cgcct ccgac gtcac

agccc agatg gcacc actga actcc agcct gggca acaga gtgac actct gcctc aaaaa acaaa caaaa caaaa

tcggg tctac cgtgg tgact tgagg tcgga cccgt tgtct cactg tgaga cggag ttttt tgttt gtttt gtttt

ccccc aaaaa gaaaa ctcaa cgttg aatct ctaga gtaga cacct cattc tcatg gccct aaatc aggaa tgagt

ggggg ttttt ctttt gagtt gcaac ttaga gatct catct gtgga gtaag agtac cggga tttag tcctt actca

aacct aggta aagga aatct acaca cagca tttca ttaag tactc ttatt ttatt agtaa gtact cactt atttt

ttgga tccat ttcct ttaga tgtgt gtcgt aaagt aattc atgag aataa aataa tcatt catga gtgaa taaaa

gctta gtgtg gtcct ataat ttcaa gttcc atact ccaga caacc aaacg catgc aaaaa caact gaaag tagaa

cgaat cacac cagga tatta aagtt caagg tatga ggtct gttgg tttgc gtacg ttttt gttga ctttc atctt

aactt gcatg aattt aaatt tcagt tccat ttaac agttc agcat agctg gccac ctgtt atgta ctggg cacta

ttgaa cgtac ttaaa tttaa agtca aggta aattg tcaag tcgta tcgac cggtg gacaa tacat gaccc gtgat

IVS 3

gatac aaaga tggtt agagt tagac acaca gtctc tgccc tggac aagct tccac ctttc ttttt tcttc ctatt

ctatg tttct accaa tctca atctg tgtgt cagag acggg acctg ttcga aggtg gaaag aaaaa agaag gataa

tgtac ttact cactt gagga tctat agtct ggctg acttt agttg cagtt ttttg caaga gtaaa aaaaa aactg

acatg aatga gtgaa ctcct agata tcaga ccgac tgaaa tcaac gtcaa aaaac gttct cattt ttttt ttgac

ctcct cgggg accat ttgtc ataca agggt ttcac ccagg tctca agact ctatg cccag ccctt catgt tccag

gagga gcccc tggta aacag tatgt tccca aagtg ggtcc agagt tctga gatac gggtc gggaa gtaca aggtc

491 495

tttca gtact tggtg ttccg gaggg tactg ttgcc cgagt ctgca tcttc tgtct aaact tttag GG CCA AGG

aaagt catga accac aaggc ctccc atgac aacgg gctca gacgt agaag acaga tttga aaatc CC GGT TCC

Gly Pro Arg

G P R

164 165

del (1,5) G=Pro (2,14) del (21)

510 | | | 540 555

GAC AGG CTG AGC TAC ACA GCC CCT CCA TCG TTT AAG GAG CAT GCG ACA AAT GAA AAC AGA GGT GAA

CTG TCC GAC TCG ATG TGT CGG GGA GGT AGC AAA TTC CTC GTA CGC TGT TTA CTT TTG TCT CCA CTT

Asp Arg Leu Ser Tyr Thr Ala Pro Pro Ser Phe Lys Glu His Ala Thr Asn Glu Asn Arg Gly Glu

D R L S Y T A P P S F K E H A T N E N R G E

170 175 180 185

G=Glu (2,14) c (9)

570 | 585 587|

GTA GCC AGT AAA CCC AGT GAA CT gtgag ttctt ctcat ttatc ccatg ttgtt attcc tgcca cttta

CAT CGG TCA TTT GGG TCA CTT GA cactc aagaa gagta aatag ggtac aacaa taagg acggt gaaat

Val Ala Ser Lys Pro Ser Glu Leu

V A S K P S E L

190 195 196

attag aaaga catca tttag ggaac aaatg aatgt tggtg atttg agtct tttca gcatg atcag ggaag atgaa

taatc tttct gtagt aaatc ccttg tttac ttaca accac taaac tcaga aaagt cgtac tagtc ccttc tactt

agtcg accct aggtc aaatt ccaac ttcat tgctt aaaag tggaa aacaa gcgtc tctct gttct ctgag gaaat

tcagc tggga tccag tttaa ggttg aagta acgaa ttttc acctt ttgtt cgcag agaga caaga gactc cttta

gaaaa taaag gtcca tttct cagtt gaagg tattc cctct attta cattt atatt ttttt cctta ggtca taatt

ctttt atttc caggt aaaga gtcaa cttcc ataag ggaga taaat gtaaa tataa aaaaa ggaat ccagt attaa

ccttt gttgt gtttt ttttt ttttt ttttt tttga gatgg agtct tgctc tgttg cccag gctgg agtgc agcag

ggaaa caaca caaaa aaaaa aaaaa aaaaa aaact ctacc tcaga acgag acaac gggtc cgacc tcacg tcgtc

IVS 4

cgtga tcttg gttca ctgca acccc tgcct cccag gttca agcaa ttctc ctgcc tcagc ctcct aagta gctgg

gcact agaac caagt gacgt tgggg acgga gggtc caagt tcgtt aagag gacgg agtcg gagga ttcat cgacc

gacta c aggca tgtgc cacca tgccc agcta atttt tgtat tttta gtgga cacag ggttt cacta tgttg

ctgat g tccgt acacg gtggt acggg tcgat taaaa acata aaaat cacct gtgtc ccaaa gtgat acaac

gccag gcttg tctcc aactc ctgac cttgt gatct gctcg ccttg gcctc ccaaa gtgct gggat tacag gtgtg