1
GUC2D gene; RetGC1 gene; retina-specific guanylyl cyclase. Stand: 11.04.2006
Sequence based on [2] and Genbank: NM_000180, AJ222657, AC107913
EEEE= Extracellular - TTTT= Transmembrane - KKKK= Kinase-like - CCCC= Catalytic - IIII= Intracellular/ cytoplasmic - SSSS= Signal peptide
Nucleotide numbering - Aminoacid numbering
n: nucleotide position varying between AJ222657 and AC107913
Sequence variations (Polymorphism, rare variant, LCA1, CORD6, EOSRP, included in LCA-Microarray but no reference available)
Italics: Mutation can be tested on LCA-Microarray
-371 -361 -351 -341 -331 -321 -311
gagca gggca gtgtg gccga cggct gaaag gggaa gctgc ggctg ctttt gtgca ggggt ggtgg tgatg agggt
ctcgt cccgt cacac cggct gccga ctttc ccctt cgacg ccgac gaaaa cacgt cccca ccacc actac tccca
-301 291 -281 -271 -261 -251 -241 -231
gatgt ggggg gctgg aaggc atgga gggga aagga tctgg ctgac tacct ggaag ccagg acaga tccca cccca
ctaca ccccc cgacc ttccg tacct cccct ttcct agacc gactg atgga ccttc ggtcc tgtct agggt ggggt
-221 -211 -201 -191 -181 -171 -161
gaaag gcgca gtagg ggctc tcatc ctcca ctagc ccgcc cctcc ctacc taatt aagga cccta atcag cttgg
ctttc cgcgt catcc ccgag agtag gaggt gatcg ggcgg ggagg gatgg attaa ttcct gggat tagtc gaacc
-151 -141 -131 -121 -111 -101 -91 -81
ggaga ttaag ggctc tggcc ggctg taccc acgcc cccgc cctgg cctgg gctgg caagg aagac ctgtg ggcgg
cctct aattc ccgag accgg ccgac atggg tgcgg gggcg ggacc ggacc cgacc gttcc ttctg gacac ccgcc
del (4,22)
-71 -61 -51 |
|------> GC-1f (2) -41 -31 -21| -10
gcgCC CACAG GGGGA CCGGC CCTGT GACCC CTCAC CGGGG CCGTG GGCCC GAGCC CCGGA CTTCC CT gtaag
cgcGG GTGTC CCCCT GGCCG GGACA CTGGG GAGTG GCCCC GGCAC CCGGG CTCGG GGCCT GAAGG GA cattc
tgtca gaggc ccctc cgctg ggata gggtc ggtct gaggg cgcag gcgag tccct gctga cccct gacgc ctcc
acagt ctccg gggag gcgac cctat cccag ccaga ctccc gcgtc cgctc aggga cgact gggga ctgcg gcgtc
<------| GC-1r (2)
IVS 1
gacgg gggga ggggc aggcc gggtg ggagc gggaa gccgg ggcgg cagaa ggggg cttcg gggcg gtgtc cttgg
gagg ctgcc cccct ccccg tccgg cccac cctcg ccctt cggcc ccgcc gtctt ccccc gaagc cccgc cacag
cccca gttag tcttc ccagc ctccg gaggg ggcgg tagca gcaga atcat cccat gggtt actcg ggctt cgcag
gaacc ggggt caatc agaag ggtcg gaggc ctccc ccgcc atcgt cgtct tagta gggta cccaa tgagc ccgaa
|------> GC-2f (2,14)
ggaga aactc ggggt tacgg ggaga accct agggg aggcc ggggt ctcag tcgct cagcc tgctc cgtct gtgtt
cctct ttgag cccca atgcc cctct tggga tcccc tccgg cccca gagtc agcga gtcgg acgag gcaga cacaa
A=Lys
|A/C=Ile (1,16) |------
-9 1|| 15 30 45 |
AAGC CGGCA ATG ACC GCC TGC GCC CGC CGA GCG GGT GGG CTT CCG GAC CCC GGG CTC TGC GGT CCC
TTCG GCCGT TAC TGG CGG ACG CGG GCG GCT CGC CCA CCC GAA GGC CTG GGG CCC GAG ACG CCA GGG
M T A C A R R A G G L P D P G L C G P
Met Thr Ala Cys Ala Arg Arg Ala Gly Gly Leu Pro Asp Pro Gly Leu Cys Gly Pro
5 10 15
SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
------dup (16) ------|
C=Arg (1) insC | (1,16) Phe=T
60 | 75 | 90 | 105 120 |
GCG TGG TGG GCT CCG TCC CTG CCC CGC CTC CCC CGG GCC CTG CCC CGG CTC CCG CTC CTG CTG CTC
CGC ACC ACC CGA GGC AGG GAC GGG GCG GAG GGG GCC CGG GAC GGG GCC GAG GGC GAG GAC GAC GAG
A W W A P S L P R L P R A L P R L P L L L L
Ala Trp Trp Ala Pro Ser Leu Pro Arg Leu Pro Arg Ala Leu Pro Arg Leu Pro Leu Leu Leu Leu
20 25 30 35 40
SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
|------> GC-2/2f (14)
T=Ser (2)
135 150 | 165 180
CTG CTT CTG CTG CAG CCC CCC GCC CTC TCC GCC GTG TTC ACG GTG GGG GTC CTG GGC CCC TGG GCT
GAC GAA GAC GAC GTC GGG GGG CGG GAG AGG CGG CAC AAG TGC CAC CCC CAG GAC CCG GGG ACC CGA
L L L L Q P P A L S A V F T V G V L G P W A
Leu Leu Leu Leu Gln Pro Pro Ala Leu Ser Ala Val Phe Thr Val Gly Val Leu Gly Pro Trp Ala
45 50 55 60 <-
SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
|--del (16)------|
195 210 225 | | 255
TGC GAC CCC ATC TTC TCT CGG GCT CGC CCG GAC CTG GCC GCC CGC CTG GCC GCC GCC CGC CTG AAC
ACG CTG GGG TAG AAG AGA GCC CGA GCG GGC CTG GAC CGG CGG GCG GAC CGG CGG CGG GCG GAC TTG
C D P I F S R A R P D L A A R L A A A R L N
Cys Asp Pro Ile Phe Ser Arg Ala Arg Pro Asp Leu Ala Ala Arg Leu Ala Ala Ala Arg Leu Asn
------| GC-2/1r (14)
65 70 75 80 85
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
(17,3,4) Tyr=A
C=Glu A=Lys |
270 285 | 300 | |
CGC GAC CCC GGC CTG GCA GGC GGT CCC CGC TTC GAG GTA GCG CTG CTG CCC GAG CCT TGC CGG ACG
GCG CTG GGG CCG GAC CGT CCG CCA GGG GCG AAG CTC CAT CGC GAC GAC GGG CTC GGA ACG GCC TGC
R D P G L A G G P R F E V A L L P E P C R T
Arg Asp Pro Gly Leu Ala Gly Gly Pro Arg Phe Glu Val Ala Leu Leu Pro Glu Pro Cys Arg Thr
90 95 100 105
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
|------
-SmaI (2,16) del
(16,1) Lys=A
330 345 360 375 |
CCG GGC TCG CTG GGG GCC GTG TCC TCC GCG CTG GCC CGC GTG TCG GGC CTC GTG GGT CCG GTG AAC
GGC CCG AGC GAC CCC CGG CAC AGG AGG CGC GAC CGG GCG CAC AGC CCG GAG CAC CCA GGC CAC TTG
P G S L G A V S S A L A R V S G L V G P V N
Pro Gly Ser Leu Gly Ala Val Ser Ser Ala Leu Ala Arg Val Ser Gly Leu Val Gly Pro Val Asn
110 115 120 125
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
------> GC-2/3f (2,4)
390 405 420 435 450
CCT GCG GCC TGC CGG CCA GCC GAG CTG CTC GCC GAA GAA GCC GGG ATC GCG CTG GTG CCC TGG GGC
GGA CGC CGG ACG GCC GGT CGG CTC GAC GAG CGG CTT CTT CGG CCC TAG CGC GAC CAC GGG ACC CCG
<------|GC2/2r (14)
P A A C R P A E L L A E E A G I A L V P W G
Pro Ala Ala Cys Arg Pro Ala Glu Leu Leu Ala Glu Glu Ala Gly Ile Ala Leu Val Pro Trp Gly
130 135 140 145 150
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
465 480 495 510
TGC CCC TGG ACG CAG GCG GAG GGC ACC ACG GCC CCT GCC GTG ACC CCC GCC GCG GAT GCC CTC TAC
ACG GGG ACC TGC GTC CGC CTC CCG TGG TGC CGG GGA CGG CAC TGG GGG CGG CGC CTA CGG GAG ATG
C P W T Q A E G T T A P A V T P A A D A L Y
Cys Pro Trp Thr Gln Ala Glu Gly Thr Thr Ala Pro Ala Val Thr Pro Ala Ala Asp Ala Leu Tyr
155 160 165 170
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
525 540 555 570 585
GCC CTG CTT CGC GCA TTC GGC TGG GCG CGC GTG GCC CTG GTC ACC GCC CCC CAG GAC CTG TGG GTG
CGG GAC GAA GCG CGT AAG CCG ACC CGC GCG CAC CGG GAC CAG TGG CGG GGG GTC CTG GAC ACC CAC
A L L R A F G W A R V A L V T A P Q D L W V
Ala Leu Leu Arg Ala Phe Gly Trp Ala Arg Val Ala Leu Val Thr Ala Pro Gln Asp Leu Trp Val
175 180 185 190 195
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
del (2,16) +BspMI
600 615 | 630 645
GAG GCG GGA CGC TCA CTG TCC ACG GCA CTC AGG GCC CGG GGC CTG CCT GTC GCC TCC GTG ACT TCC
CTC CGC CCT GCG AGT GAC AGG TGC CGT GAG TCC CGG GCC CCG GAC GGA CAG CGG AGG CAC TGA AGG
E A G R S L S T A L R A R G L P V A S V T S
Glu Ala Gly Arg Ser Leu Ser Thr Ala Leu Arg Ala Arg Gly Leu Pro Val Ala Ser Val Thr Ser
200 205 210 215
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
660 675 690 705
ATG GAG CCC TTG GAC CTG TCT GGA GCC CGG GAG GCC CTG AGG AAG GTT CGG GAC GGG CCC AGG GTC
TAC CTC GGG AAC CTG GAC AGA CCT CGG GCC CTC CGG GAC TCC TTC CAA GCC CTG CCC GGG TCC CAG
M E P L D L S G A R E A L R K V R D G P R V
Met Glu Pro Leu Asp Leu Ser Gly Ala Arg Glu Ala Leu Arg Lys Val Arg Asp Gly Pro Arg Val
220 225 230 235
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
721
ACA G gtagg ctccc ttgca gggtg cgagg aggtc ggctg gtcct gccgg cagcc
TGT C catcc gaggg aacgt cccac gctcc tccag ccgac cagga cggcc gtcgg
T A <------| GC-2/3r (2,14)
Thr Ala
240 241
EEEEEEE
IVS 2
|------> GC3f (2)
ggacg gcgcc gcgag ccaag cctct gtccg cag
cctgc cgcgg cgctc ggttc ggaga caggc gtc
C=Pro
722 735 750 765 |
CA GTG ATC ATG GTG ATG CAC TCG GTG CTG CTG GGT GGC GAG GAG CAG CGC TAC CTC CTG GAG GCC
GT CAC TAG TAC CAC TAC GTG AGC CAC GAC GAC CCA CCG CTC CTC GTC GCG ATG GAG GAC CTC CGG
A V I M V M H S V L L G G E E Q R Y L L E A
Ala Val Ile Met Val Met His Ser Val Leu Leu Gly Gly Glu Glu Gln Arg Tyr Leu Leu Glu Ala
241 245 250 255 260
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
795 810 825 840
GCA GAG GAG CTG GGC CTG ACC GAT GGC TCC CTG GTC TTC CTG CCC TTC GAC ACG ATC CAC TAC GCC
CGT CTC CTC GAC CCG GAC TGG CTA CCG AGG GAC CAG AAG GAC GGG AAG CTG TGC TAG GTG ATG CGG
A E E L G L T D G S L V F L P F D T I H Y A
Ala Glu Glu Leu Gly Leu Thr Asp Gly Ser Leu Val Phe Leu Pro Phe Asp Thr Ile His Tyr Ala
265 270 275 280
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
855 870 885 900 915
TTG TCC CCA GGC CCG GAG GCC TTG GCC GCA CTC GCC AAC AGC TCC CAG CTT CGC AGG GCC CAC GAT
AAC AGG GGT CCG GGC CTC CGG AAC CGG CGT GAG CGG TTG TCG AGG GTC GAA GCG TCC CGG GTG CTA
L S P G P E A L A A L A N S S Q L R R A H D
Leu Ser Pro Gly Pro Glu Ala Leu Ala Ala Leu Ala Asn Ser Ser Gln Leu Arg Arg Ala His Asp
285 290 295 300 305
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
T=Met (18,19)
| T=Cys (1,16) C=Pro (3,23,17)
930 | | 945 960 |
GCC GTG CTC ACC CTC ACG CGC CAC TGT CCC TCT GAA GGC AGC GTG CTG GAC AGC CTG CGC AGG GCT
CGG CAC GAG TGG GAG TGC GCG GTG ACA GGG AGA CTT CCG TCG CAC GAC CTG TCG GAC GCG TCC CGA
A V L T L T R H C P S E G S V L D S L R R A
Ala Val Leu Thr Leu Thr Arg His Cys Pro Ser Glu Gly Ser Val Leu Asp Ser Leu Arg Arg Ala
310 315 320 325
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
990 1005 1020 1026
CAA GAG CGC CGC GAG CTG CCC TCT GAC CTC AAT CTG CAG CAG gtaga cggtc ccggg aggag ggaag
GTT CTC GCG GCG CTC GAC GGG AGA CTG GAG TTA GAC GTC GTC catct gccag ggccc tcctc ccttc
Q E R R E L P S D L N L Q Q <-
Gln Glu Arg Arg Glu Leu Pro Ser Asp Leu Asn Leu Gln Gln
330 335 340 342
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
aaggc aaggg agagg ggaga ggaca gccaa agcag ggaga ggagg atgca gccaa tggag aaaga accac tggca
ttccg ttccc tctcc cctct cctgt cggtt tcgtc cctct cctcc tacgt cggtt acctc tttct tggtg accgt
------| GC-3r (2)
gctct agctg tttgg agttt cctgg gtaat gtaga ggctc tggcc ccact tgggg tctct tagtg tacga ggatt
cgaga tcgac aaacc tcaaa ggacc catta catct ccgag accgg ggtga acccc agaga atcac atgct cctaa
gcctc tagag agtag gcaat tcgac ctctc aagtc caaca tcaag cagta aactc taatg aactg taaac tgcaa
cggag atctc tcatc cgtta agctg gagag ttcag gttgt agttc gtcat ttgag attac ttgac atttg acgtt
IVS 3 (+1730 bp)
gggag gaaga gagac ccagt gggga gggag gaaga gagag ccaat gggga gggag gaaga gagcc aatgg ggagg
ccctc cttct ctctg ggtca cccct ccctc cttct ctctc ggtta cccct ccctc cttct ctcgg ttacc cctcc
gagga agaga tagcc aatgg ggagg gatcc tggga acaac taact ggaag gtggc aacag tggat accct gggct
ctcct tctct atcgg ttacc cctcc ctagg accct tgttg attga ccttc caccg ttgtc accta tggga cccga
|------> GC-4r (2)
tgaca ggcag tgaaa gaatc tggtc tgtct gtggg ctgtg acccc gacct ctgag cccct actct ccttc tccag
actgt ccgtc acttt cttag accag acaga caccc gacac tgggg ctgga gactc gggga tgaga ggaag aggtc
G=Cys T=Ser
1027 1035 1050 | 1065 1080 |
GTC TCC CCA CTC TTT GGC ACC ATC TAT GAC GCG GTC TTC TTG CTG GCA AGG GGC GTG GCA GAA
CAG AGG GGT GAG AAA CCG TGG TAG ATA CTG CGC CAG AAG AAC GAC CGT TCC CCG CAC CGT CTT
V S P L F G T I Y D A V F L L A R G V A E
Val Ser Pro Leu Phe Gly Thr Ile Tyr Asp Ala Val Phe Leu Leu Ala Arg Gly Val Ala Glu
343 345 350 355 360
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
A=Val (5)
1095 1110 | 1125 1140 1155
GCG CGG GCT GCC GCA GGT GGC AGA TGG GTG TCC GGA GCA GCT GTG GCC CGC CAC ATC CGG GAT GCG
CGC GCC CGA CGG CGT CCA CCG TCT ACC CAC AGG CCT CGT CGA CAC CGG GCG GTG TAG GCC CTA CGC
A R A A A G G R W V S G A A V A R H I R D A
Ala Arg Ala Ala Ala Gly Gly Arg Trp Val Ser Gly Ala Ala Val Ala Arg His Ile Arg Asp Ala
365 370 375 380 385
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
1170 1185 1200 1215
CAG GTC CCT GGC TTC TGC GGG GAC CTA GGA GGA GAC GAG GAG CCC CCA TTC GTG CTG CTA GAC ACG
GTC CAG GGA CCG AAG ACG CCC CTG GAT CCT CCT CTG CTC CTC GGG GGT AAG CAC GAC GAT CTG TGC
Q V P G F C G D L G G D E E P P F V L L D T
Gln Val Pro Gly Phe Cys Gly Asp Leu Gly Gly Asp Glu Glu Pro Pro Phe Val Leu Leu Asp Thr
390 395 400 405
EEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEE
T=Asp (4,5
1230 | 1245 1260 1275
GAC GCG GCG GGA GAC CGG CTT TTT GCC ACA TAC ATG CTG GAT CCT GCC CGG GGC TCC TTC CTC TCC
CTG CGC CGC CCT CTG GCC GAA AAA CGG TGT ATG TAC GAC CTA GGA CGG GCC CCG AGG AAG GAG AGG
D A A G D R L F A T Y M L D P A R G S F L S