11-cis Retinol Dehydrogenase (RDH5), Homo sapiens, Genbank entry: U43559 Recent update: 20.2.05
Nucleotide numbering is given in Blue
Aminoacid numbering is given in green
Colour coding of the mutations indicates the following disorders
|Fundus albipunctatus; |Fundus albipunctatus + COD; |Fundus albipunctatus + Macular Dystrophy; |Polymorphism
Numbers in brackets indicate the references at the end of the document
Mutations have been adjusted to the most recent nucleotide and codon numbering.
L = Ligand-binding (8)
C = Co-factor-binding (8)
S = SDR-conserved (8)
-1030 -1020 -1010 -1000 -990 -980 -970 -960
acaga gcagt gcagc tgcca tcctt gacag ctccc tcctc cttgg agacc atgac ataga tggtc aggaa cccag
tgtct cgtca cgtcg acggt aggaa ctgtc gaggg aggag gaacc tctgg tactg tatct accag tcctt gggtc
-950 -940 -930 -920 -910 -900 -890
gctga gaaag acagc caagg ggtgg gggga gccta ggcaa atctg gcctc tgcca agtcc tggct tcagc caggc
cgact ctttc tgtcg gttcc ccacc cccct cggat ccgtt tagac cggag acggt tcagg accga agtcg gtccg
-870 -860 -850 -840 -830 -820 -810 -800
aagct ccagc ctccc tggct cctcc tcctc ctcag tccta tcccc accct gtcac acata cactt aatac gcctg
ttcga ggtcg gaggg accga ggagg aggag gagtc aggat agggg tggga cagtg tgtat gtgaa ttatg cggac
-790 -780 -770 -760 -750 -740 -730
gcatc caagt ccacc cactc cggac tttgg cctta gcagt agtta gtgtg ggagg ctggg aagac tggga gcagt
cgtag gttca ggtgg gtgag gcctg aaacc ggaat cgtca tcaat cacac cctcc gaccc ttctg accct cgtca
-720 -710 -700 -690 -680 -670 -660 -650
ctctt aaaca aaagc aaaag aataa gcttc gggcg ctgta gtacc tgcca gcttt cgcca cagga ggtaa gtgga
gagaa tttgt tttcg ttttc ttatt cgaag cccgc gacat catgg acggt cgaaa gcggt gtcct ccatt cacct
-640 -630 -620 -610 -600 -590 -580
tctgg gagct ggggg aactg agaag actag ccaga tatta catgt attgc caact caaaa ctttc agctt ttaac
agacc ctcga ccccc ttgac tcttc tgatc ggtct ataat gtaca taacg gttga gtttt gaaag tcgaa aattg
-570 -560 -550 -540 -530 -520 -510 -500
atgct tcctc acaca ttatc ccctt tgatc ctcca caact ctgag gtgga cctgg tgggt cttag cccca cttgg
tacga aggag tgtgt aatag gggaa actag gaggt gttga gactc cacct ggacc accca gaatc ggggt gaacc
-490 -480 -470 -460 -450 -440 -430
tagat gagaa aatag gttga gagag acagt gagat gctca gtatc acaca gcaaa cctct tggcc ctata catca
atcta ctctt ttatc caact ctctc tgtca ctcta cgagt catag tgtgt cgttt ggaga accgg gatat gtagt
-420 -410 -400 -390 -380 -370 -360 -350
ttcca aacac aagac ccagg ttgca tatag aaggt tcagt gtccc tggtt tagaa ggaga ggtgg tgtga ggcaa
aaggt ttgtg ttctg ggtcc aacgt atatc ttcca agtca caggg accaa atctt cctct ccacc acact ccgtt
-340 -330 -320 -310 -300 -290 -280
gcaag aagat gcctc tgctg cactc cagcc tgggc gacag agtga gactc catct caaaa aaaaa aaaaa acgat
cgttc ttcta cggag acgac gtgag gtcgg acccg ctgtc tcact ctgag gtaga gtttt ttttt ttttt tgcta
-270 -260 -250 -240 -230 -220 -210 -200
gcctc tgctc catac agcag gtctg tacac aggat ctggc tcatg tggtt ttagt taagt tagcc acaaa tacag
cggag acgag gtatg tcgtc cagac atgtg tccta gaccg agtac accaa aatca attca atcgg tgttt atgtc
-190 -180 -170 -160 -150 -140 -130
ggtct gccca catct ttgct ttgaa cagat gagcc atggt tggcc aatta tctgc caacc agata atttc tcaat
ccaga cgggt gtaga aacga aactt gtcta ctcgg tacca accgg ttaat agacg gttgg tctat taaag agtta
-120 -110 -100 -90 -80 -70 -60 -50
RD2/1f (1) |------>
atgct cacac cagat gcttc cagct aggga gggta ttagg ggaaa gggct tgagg gccac agtaa actgg acaag
tacga gtgtg gtcta cgaag gtcga tccct cccat aatcc ccttt cccga actcc cggtg tcatt tgacc tgttc
IVS 1
-40 -30 -20 -10 1 15
ttttt ctgcc cagcc taggc tgcca cctgt aggtc acttg ggctc cagct ATG TGG CTG CCT CTT CTG CTG
aaaaa gacgg gtcgg atccg acggt ggaca tccag tgaac ccgag gtcga TAC ACC GAC GGA GAA GAC GAC
Met Trp Leu Pro Leu Leu Leu
M W L P L L L
1 5
30 45 60 75
|------> RD2/2f (1)
GGT GCC TTA CTC TGG GCA GTG CTG TGG TTG CTC AGG GAC CGG CAG AGC CTG CCC GCC AGC AAT GCC
CCA CGG AAT GAG ACC CGT CAC GAC ACC AAC GAG TCC CTG GCC GTC TCG GAC GGG CGG TCG TTA CGG
<
Gly Ala Leu Leu Trp Ala Val Leu Trp Leu Leu Arg Asp Arg Gln Ser Leu Pro Ala Ser Asn Ala
G A L L W A V L W L L R D R Q S L P A S N A
10 15 20 25
G=Val (1)
| A=Ser (2) del (7)
90 | | 120 | 135 150
| | |------> RD2/3f(1)
TTT GTC TTC ATC ACC GGC TGT GAC TCA GGC TTT GGG CGC CTT CTG GCA CTG CAG CTG GAC CAG AGA
AAA CAG AAG TAG TGG CCG ACA CTG AGT CCG AAA CCC GCG GAA GAC CGT GAC GTC GAC CTG GTC TCT
------| RD2/1r (1) <------
Phe Val Phe Ile Thr Gly Cys Asp Ser Gly Phe Gly Arg Leu Leu Ala Leu Gln Leu Asp Gln Arg
F V F I T G C D S G F G R L L A L Q L D Q R
CCCCCCCCCCCCCCCCCCCCCCCCCCC
30 35 40 45 50
(1,13,15) Phe=T
(7) ins GTGG |
165 180 195 210 | |
GGC TTC CGA GTC CTG GCC AGC TGC CTG ACC CCC TCC GGG GCC GAG GAC CTG CAG CGG GTG GCC TCC
CCG AAG GCT CAG GAC CGG TCG ACG GAC TGG GGG AGG CCC CGG CTC CTG GAC GTC GCC CAC CGG AGG
------| RD2/2r (1)
Gly Phe Arg Val Leu Ala Ser Cys Leu Thr Pro Ser Gly Ala Glu Asp Leu Gln Arg Val Ala Ser
G F R V L A S C L T P S G A E D L Q R V A S
55 60 65 70
225 240 255 270 285
TCC CGC CTC CAC ACC ACC CTG TTG GAT ATC ACT GAT CCC CAG AGC GTC CAG CAG GCA GCC AAG TGG
AGG GCG GAG GTG TGG TGG GAC AAC CTA TAG TGA CTA GGG GTC TCG CAG GTC GTC CGT CGG TTC ACC
Ser Arg Leu His Thr Thr Leu Leu Asp Ile Thr Asp Pro Gln Ser Val Gln Gln Ala Ala Lys Trp
S R L H T T L L D I T D P Q S V Q Q A A K W
75 80 85 90 95
300 310
GTG GAG ATG CAC GTT AAG GAA GCA G gtaag tatgg tagac cacca ggaat atggt gtggg gtgtc ctgat
CAC CTC TAC GTG CAA TTC CTT CGT C cattc atacc atctg gtggt cctta tacca caccc cacag gacta
Val Glu Met His Val Lys Glu Ala Gly <------| RD2/3r (1)
V E M H V K E A G
100 104
cccca cagtc acccc aggag tcacc tgcaa gggct gtggt aagct aaagg gacaa tttga ggaga agcag ttttc ggggt gtcag tgggg tcctc agtgg acgtt cccga cacca ttcga tttcc ctgtt aaact cctct tcgtc aaaag
IVS 2
|------> RD3/1f(1)
agat gctcc cagga agaag aggga gctgt gggag tgcct cacct acccc cagca tcctt ttcat ctccc cacag
tcta cgagg gtcct tcttc tccct cgaca ccctc acgga gtgga tgggg gtcgt aggaa aagta gaggg gtgtc
C=Arg (6,13,15)
312 315 | 330 345 360 375
GG CTT TTT GGT CTG GTG AAT AAT GCT GGT GTG GCT GGT ATC ATC GGA CCC ACA CCA TGG CTG ACC
CC GAA AAA CCA GAC CAC TTA TTA CGA CCA CAC CGA CCA TAG TAG CCT GGG TGT GGT ACC GAC TGG
Gly Leu Phe Gly Leu Val Asn Asn Ala Gly Val Ala Gly Ile Ile Gly Pro Thr Pro Trp Leu Thr
G L F G L V N N A G V A G I I G P T P W L T
SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
105 110 115 120 125
A=Met (6,14) T=Ile (1)
390 | 405 420 | 435
| |------> Rd3/2f (1)
CGG GAC GAT TTC CAG CGG GTG CTG AAT GTG AAC ACA ATG GGT CCC ATC GGG GTC ACC CTT GCC CTG
GCC CTG CTA AAG GTC GCC CAC GAC TTA CAC TTG TGT TAC CCA GGG TAG CCC CAG TGG GAA CGG GAC
Arg Asp Asp Phe Gln Arg Val Leu Asn Val Asn Thr Met Gly Pro Ile Gly Val Thr Leu Ala Leu
R D D F Q R V L N V N T M G P I G V T L A L
130 135 140 145
T=Trp (3) T=Phe (12) A=His (11)
450 465 | 480 | 495 |
CTG CCT CTG CTG CAG CAA GCC CGG GGC CGG GTG ATC AAC ATC ACC AGC GTC CTG GGT CGC CTG GCA
GAC GGA GAC GAC GTC GTT CGG GCC CCG GCC CAC TAG TTG TAG TGG TCG CAG GAC CCA GCG GAC CGT
<------| Rd3/1r (1)
Leu Pro Leu Leu Gln Gln Ala Arg Gly Arg Val Ile Asn Ile Thr Ser Val Leu Gly Arg Leu Ala
L P L L Q Q A R G R V I N I T S V L G R L A
150 155 160 165
C=Gly (9)
510 525 | 540 555 569
GCC AAT GGT GGG GGC TAC TGT GTC TCC AAA TTT GGC CTG GAG GCC TTC TCT GAC AGC CTG AG
CGG TTA CCA CCC CCG ATG ACA CAG AGG TTT AAA CCG GAC CTC CGG AAG AGA CTG TCG GAC TC
Ala Asn Gly Gly Gly Tyr Cys Val Ser Lys Phe Gly Leu Glu Ala Phe Ser Asp Ser Leu Arg
A N G G G Y C V S K F G L E A F S D S L R
LLLLLLLLLLLLLLLLLLL
170 175 180 185 190
gtgag gggta caggg ctctg ggttc cagga ctaac agcag cccac tcaac aaacg tgggc cagca gaggt ggtta
cactc cccat gtccc gagac ccaag gtcct gattg tcgtc gggtg agttg tttgc acccg gtcgt ctcca ccaat
<------| RD3/2r (1)
aaata cagca cattg gaata gttaa aaaga gacag tttag ggcta aactt catgg gttca atgaa gtcta ccctt
tttat gtcgt gtaac cttat caatt tttct ctgtc aaatc ccgat ttgaa gtacc caagt tactt cagat gggaa
atgta agctt tgtga ccata agtag attac ttctc tttac ccatt tttaa cgtgt ttgtt ttttg ttttt tgaga
tacat tcgaa acact ggtat tcatc taatg aagag aaatg ggtaa aaatt gcaca aacaa aaaac aaaaa actct
tggag tcttg ctctg tcgcc aggct ggagt gcagt ggcgc gatct tggct cacca caatt tccac ccccg gggtt
acctc agaac gagac agcgg tccga cctca cgtca ccgcg ctaga accga gtggt gttaa aggtg ggggc cccaa
caagc gattc tcctg cctca gcctc ccgag tagct gggac tacag gcatg cgcca ccatg cctgg ctaat ttttg
gttcg ctaag aggac ggagt cggag ggctc atcga ccctg atgtc cgtac gcggt ggtac ggacc gatta aaaac
tattt ttagt agaga caggg tttca ctatg ttggc caggt tggtc tcaaa ctcct gacct cgtga tccgc ccacc
ataaa aatca tctct gtccc aaagt gatac aaccg gtcca accag agttt gagga ctgga gcact aggcg ggtgg
tcagc ctccc aaagt gctgg gatta caggt gtgag ccacc acgcc cggcc ttgcc tctcg tcttt aaaca ataag
agtcg gaggg tttca cgacc ctaat gtcca cactc ggtgg tgcgg gccgg aacgg agagc agaaa tttgt tattc
gttca aagtt ccgtg ggagc acaaa ggaga catga tgagg acaac gggag ttagg gcctg agttt ttttg gtttt
caagt ttcaa ggcac cctcg tgttt cctct gtact actcc tgttg ccctc aatcc cggac tcaaa aaaac caaaa
ttttt tttaa gcgtt ttgct cttgt tgcct aggct ggagt gcaat ggcga gatct cagct cacag caacc cctgc
aaaaa aaatt cgcaa aacga gaaca acgga tccga cctca cgtta ccgct ctaga gtcga gtgtc gttgg ggacg
ctctc aggtt catgt gattc tcctg cctca gcctc ccgat tagct gggct tacag gcacg tgcca ccact cccag
gagag tccaa gtaca ctaag aggac ggagt cggag ggcta atcga cccga atgtc cgtgc acggt ggtga gggtc
ctaaa ttttt aggta gagat ggagt ttata ccatg tggcc agggt gggtt tgaat tcctg acctc acctg atcca
gattt aaaaa tccat ctcta cctca aatat ggtac accgg tccca cccaa actta aggac tggag tggac taggt
ccgga ccggc cttcc caaag tgctg ggatt acagg catga gccac cacac acggc ccaag gcctg agttc ttagc
ggcct ggccg gaagg gtttc acgac cctaa tgtcc gtact cggtg gtgtg tgccg ggttc cggac tcaag aatcg
aggag tataa ggcgc ctaag cttag tctac cttct aagga agcct gcgtt tgtca ccatc actca gcaaa taacc
tcctc atatt ccgcg gattc gaatc agatg gaaga ttcct tcgga cgcaa acagt ggtag tgagt cgttt attgg
ggaat tgtct cctgt ctctc agcct taatt tttca ggcag catca tggga cacat acttt tagtt ttgag acaag
cctta acaga ggaca gagag tcgga attaa aaagt ccgtc gtagt accct gtgta tgaaa atcaa aactc tgttc
gcctt gctct caccc agggt ggagt gcagt ggtgc agtca cggcc cactg aactt caaac tccta ggctc aagca
cggaa cgaga gtggg tccca cctca cgtca ccacg tcagt gccgg gtgac ttgaa gtttg aggat ccgag ttcgt
gctca agcga tatcc gcctc agcct cctga gtagc tgaga ccaca ggcgc gtgcc agcat gcctg gctag tattt
cgagt tcgct atagg cggag tcgga ggact catcg actct ggtgt ccgcg cacgg tcgta cggac cgatc ataaa
tttta cagat ggggt cttgc tgtgg tgacc agact tgtct ccaac tcccg gcctc aagcg atgct tccgc ctggg
aaaat gtcta cccca gaacg acacc actgg tctga acaga ggttg agggc cggag ttcgc tacga aggcg gaccc
cctcc caaag tgttg ggatt atagg tgtga gccac tgcat actgg aacac atact ttata cttga atttt ttttt
ggagg gtttc acaac cctaa tatcc acact cggtg acgta tgacc ttgtg tatga aatat gaact taaaa aaaaa
atccc cttcc ttcgt gctcc taacc tatac ttgga tttct acatc tgtgc caggg cagtg ggatg tatcc ccact
taggg gaagg aagca cgagg attgg atatg aacct aaaga tgtag acacg gtccc gtcac cctac atagg ggtga
ttccc catca gctta ccctc cagca aatac gagac tatac ccttc aatat ccagc actca gggct caacc atgtg
aaggg gtagt cgaat gggag gtcgt ttatg ctctg atatg ggaag ttata ggtcg tgagt cccga gttgg tacac
ttttg ggagc aaggg aatgg ggttc ctcta ggtca ggaat cggca aactc agtac tcaag ccaga tttgg ccagc
aaaac cctcg ttccc ttacc ccaag gagat ccagt cctta gccgt ttgag tcatg agttc ggtct aaacc ggtcg
IVS 3
tgcct acaag ctgat aatgg ttttt tttat tttta aatgg ttaca ttgta aactg ttata taagt acctg ataat
acgga tgttc gacta ttacc aaaaa aaata aaaat ttacc aatgt aacat ttgac aatat attca tggac tatta
atcat taatt ttgtt tcttg gcctg ccatg cttaa aatat taact ctctg gccct ttaag aaaaa aacgt gctga
tagta attaa aacaa agaac cggac ggtac gaatt ttata attga gagac cggga aattc ttttt ttgca cgact
cccct gctct agatc aaaga aaaca aacct caaaa atact ttcct ccctc taccc cactt gaccc ttgtc ccggg
gggga cgaga tctag tttct tttgt ttgga gtttt tatga aagga gggag atggg gtgaa ctggg aacag ggccc
gcagt aggca tctcc gtcaa aactc ttgtc cctgg tctgt ggtaa ctttc tcagc tcccc aaccc atgtc cctca
cgtca tccgt agagg cagtt ttgag aacag ggacc agaca ccatt gaaag agtcg agggg ttggg tacag ggagt
570 585
|------> RD4f (1)
aagtc ccctc cctat agggc aagaa cccag caact tcgct ctgcc ccgac tctag G CGG GAT GTA GCT CAT
ttcag gggag ggata tcccg ttctt gggtc gttga agcga gacgg ggctg agatc C GCC CTA CAT CGA GTA
Arg Arg Asp Val Ala His
R R D V A H
190 195
A/T/G=V200V (1,4)
600| 615 630 645
TTT GGG ATA CGA GTC TCC ATC GTG GAG CCT GGC TTC TTC CGA ACC CCT GTG ACC AAC CTG GAG AGT
AAA CCC TAT GCT CAG AGG TAG CAC CTC GGA CCG AAG AAG GCT TGG GGA CAC TGG TTG GAC CTC TCA
Phe Gly Ile Arg Val Ser Ile Val Glu Pro Gly Phe Phe Arg Thr Pro Val Thr Asn Leu Glu Ser
F G I R V S I V E P G F F R T P V T N L E S
200 205 210 215
insG (6)
T=Trp (1,5)
660 675 690 705 |
CTG GAG AAA ACC CTG CAG GCC TGC TGG GCA CGG CTG CCT CCT GCC ACA CAG GCC CAC TAT GGG GGG