1
Last update: 15.04.07
Homo sapiens rim ABC transporter (ABCR) according to Genbank: Y15635 - Y15684, AC093579, AC105278, AC445933 and results from the editors lab, as well as [5], variations from [22,23] and positions varying among the GenBank entries are shown and given by underlined Positions
Nucleotide numbering is given in Blue
Aminoacid numbering is given in green
Colour coding of the mutations indicates the following disorders
|STGD|FFM|AMD|ARRP|arCRD|Polymorphism
|STGD/FFM|STGD/ARRP|STGD/arCRD|STGD/AMD|STGD/AMD/adCRD|unpublished mutation spotted on microarray
Numbers in brackets indicate the references at the end of the document
Mutations have been adjusted to the most recent nucleodtide and codon numbering. When the mutations are given in bold it is indicated that the nucleotide change could not be correlated with the published sequence
Mutations given in Italics are spotted on the recent ABCR mutation microarray.
Functional units
T = TMD
A = ATP-binding domain Walker A motif [22]
B= ATP-binding domain Walker B motif [22]
C= ATP-binding domain signature motif C[22]
-80 -70 -60 -50 -40 -30 -20
C TGGCT CTTAA CGGCG TTTAT GTCCT TTGCT GTCTG AGGGG CCTCA GCTCT GACCA ATCTG GTCTT CGTGT
G ACCGA GAATT GCCGC AAATA CAGGA AACGA CAGAC TCCCC GGAGT CGAGA CTGGT TAGAC CAGAA GCACA
|-del (19)-| T=Trp (5)
G=Val (19) C=Pro |(4) ter=A | | T=Trp(41)
-10 | 15 30 | | | | | |
GGTCA TTAGC ATG GGC TTC GTG AGA CAG ATA CAG CTT TTG CTC TGG AAG AAC TGG ACC CTG CGG AAA
CCAGT AATCG TAC CCG AAG CAC TCT GTC TAT GTC GAA AAC GAG ACC TTC TTG ACC TGG GAC GCC TTT
Met Gly Phe Val Arg Gln Ile Gln Leu Leu Leu Trp Lys Asn Trp Thr Leu Arg Lys
M G F V R Q I Q L L L W K N W T L R K
1 5 10 15
60 66
AGG CAA AAG gtaac agtta ctgtc tgtgg tttaa aaatg aggtg tggag caaac aaac
TCC GTT TTC cattg tcaat gacag acacc aaatt tttac tccac acctc gtttg tttg
Arg Gln Lys
R Q K
20 22
- IVS 1 -
gtc tgctc tggtt acgtt ttcta taatc tctta gcacc actga acttt ctctc ttttt gtttt gtttt tccag
cag acgag accaa tgcaa aagat attag agaat cgtgg tgact tgaaa gagag aaaaa caaaa caaaa aggtc
T=Cys(41)
|A=His (6,20) del (4,28) A=ter
67 || 75 90 105 | 120 |
ATT CGC TTT GTG GTG GAA CTC GTG TGG CCT TTA TCT TTA TTT CTG GTC TTG ATC TGG TTA AGG AAT
TAA GCG AAA CAC CAC CTT GAG CAC ACC GGA AAT AGA AAT AAA GAC CAG AAC TAG ACC AAT TCC TTA
Ile ArgPheValValGluLeuValTrp Pro Leu Ser Leu Phe Leu Val Leu Ile Trp Leu Arg Asn
I ArgPheValValGluLeuVal W P L S L F L V L I W L R N
23 25 30 35 40
A=Pro (19) a (28)
135 | 150 |
GCC AAC CCG CTC TAC AGC CAT CAT GAA T gtaag catag caggg tagct tgggc aagcc ctgaa gagac
CGG TTG GGC GAG ATG TCG GTA GTA CTT A cattc gtatc gtccc atcga acccg ttcgg gactt ctctg
Ala Asn Pro Leu Tyr Ser His His Glu Cys
A N P L Y S H H E C
45 50 54
tttgg tctgg gcctt ctgtc tagaa agatc ttggg gtggg agtgt gggga tcaga tctgc ttaca tcatt t
aaacc agacc cggaa gacag atctt tctag aaccc caccc tcaca cccct agtct agacg aatgt agtaa a
- IVS 2 –
t/g (28)
|
gga catca gaggg gcccg ggccc cttcc caaaa aggcc aactc ctagg tctgc atcct gcttg gtctc catga
cct gtagt ctccc cgggc ccggg gaagg gtttt tccgg ttgag gatcc agacg tagga cgaac cagag gtact
A=Tyr (2,6,19,20,36) (41,36,31,7,19) Glu=A
| G=Lys (19) |
T=Phe | A=Val |
g/a (28) | | |T=Val (6,19) |
| | 165 | || |
ctaat cccgt cttgt cctca ttttc tgttt taaag GC CAT TTC CCC AAC AAG GCG ATG CCC TCA GCA GGA
gatta gggca gaaca ggagt aaaag acaaa atttc CG GTA AAG GGG TTG TTC CGC TAC GGG AGT CGT CCT
Cys His Phe Pro Asn Lys Ala Met Pro Ser Ala Gly
C H F P N K A M P S A G
54 55 60 65
T=Leu A=Arg A=Glu (19)
G=Arg (6,20) | (6,28) G=Gly | T=Asn (28) (28)delinsCAAA (8,9,32)
| 210 | | | | 240 |---|| 255
ATG CTG CCG TGG CTC CAG GGG ATC TTC TGC AAT GTG AAC AAT CCC TGT TTT CAA AGC CCC ACC CCA
TAC GAC GGC ACC GAG GTC CCC TAG AAG ACG TTA CAC TTG TTA GGG ACA AAA GTT TCG GGG TGG GGT
Met Leu Pro Trp Leu Gln Gly Ile Phe Cys Asn Val Asn Asn Pro Cys Phe Gln Ser Pro Thr Pro
M L P W L Q G I F C N V N N P C F Q S P T P
70 75 80 85
G=Asp (2) insA
C=His (2) | C=Pro (28)
| A/G=Lys | | a t(19,28,32)
270 285 || | | 302| |
GGA GAA TCT CCT GGA ATT GTG TCA AAC TAT AAC AAC TCC AT gtaag tgttg agatc cctac catgc
CCT CTT AGA GGA CCT TAA CAC AGT TTG ATA TTG TTG AGG TA cattc acaac tctag ggatg gtacg
Gly Glu Ser Pro Gly Ile Val Ser Asn Tyr Asn Asn Ser Ile
G E S P G I V S N Y N N S I
90 95 100 101
g (19,20,28,32) g (19)
| |
agggg aggaa gttgc acacc ccttc acgtg ctgaa atgca cacgt gcgtg cacgg agcat ggagc actga gtgtt
tcccc tcctt caacg tgtgg ggaag tgcac gactt tacgt gtgca cgcac gtgcc tcgta cctcg tgact cacaa
cttgt ggctt tg
gaaca ccgaa ac
- IVS 3 –
del (19)
|
a aaaaa aaaaa tagca tgaga tatta ttact gttat aaaaa taaca gctat ttcct tatta atgag
t ttttt ttttt atcgt actct ataat aatga caata ttttt attgt cgata aagga ataat tactc
insT (9,32)
303 315 | 330 345
gcttt gtcct tacag C TTG GCA AGG GTA TAT CGA GAT TTT CAA GAA CTC CTC ATG AAT GCA CCA GAG
cgaaa cagga atgtc G AAC CGT TCC CAT ATA GCT CTA AAA GTT CTT GAG GAG TAC TTA CGT GGT CTC
Ile Leu Ala Arg Val Tyr Arg Asp Phe Gln Glu Leu Leu Met Asn Ala Pro Glu
I L A R V Y R D F Q E L L M N A P E
101 105 110 115
360 375 390 405 420
AGC CAG CAC CTT GGC CGT ATT TGG ACA GAG CTA CAC ATC TTG TCC CAA TTC ATG GAC ACC CTC CGG
TCG GTC GTG GAA CCG GCA TAA ACC TGT CTC GAT GTG TAG AAC AGG GTT AAG TAC CTG TGG GAG GCC
Ser Gln His Leu Gly Arg Ile Trp Thr Glu Leu His Ile Leu Ser Gln Phe Met Asp Thr Leu Arg
S Q H L G R I W T E L H I L S Q F M D T L R
120 125 130 135 140
T=Leu
| 435 442
ACT CAC CCG GAG AGA ATT GCA G gtaag catga ctgca gtgct ctcaa gcatc atttc cctca cctat ggaga
TGA GTG GGC CTC TCT TAA CGT C cattc gtact gacgt cacga gagtt cgtag taaag ggagt ggata cctct
Thr His Pro Glu Arg Ile Ala Gly
T H P E R I A G
145 148
gactg aagat atagg aaaga acagg gagag ttggt gaaaa atat
ctgac ttcta tatcc tttct tgtcc ctctc aacca ctttt tata
- IVS 4 –
tct gagag ttgag ttaca agtgt ttcca atcga ctctg gctgt tttcc ttttt ttgac ccatt tcccc ttcaa
aga ctctc aactc aatgt tcaca aaggt tagct gagac cgaca aaagg aaaaa aactg ggtaa agggg aagtt
caccc tgttc tttct cttat tcata tgtag
gtggg acaag aaaga gaata agtat acatc
T=ter (3,19,38)
| A=Gln (9,32,36,38)
| G=Val (2) A=Lys (41)
443 450 || | 480 | 495
GA AGA GGA ATA CGA ATA AGG GAT ATC TTG AAA GAT GAA GAA ACA CTG ACA CTA TTT CTC ATT AAA
CT TCT CCT TAT GCT TAT TCC CTA TAG AAC TTT CTA CTT CTT TGT GAC TGT GAT AAA GAG TAA TTT
Gly Arg Gly Ile Arg Ile Arg Asp Ile Leu Lys Asp Glu Glu Thr Leu Thr Leu Phe Leu Ile Lys
G R G I R I R D I L K D E E T L T L F L I K
148 150 155 160 165
A=Ser (36) (19) C=His
510 | 525 540 555 |
AAC ATC GGC CTG TCT GAC TCA GTG GTC TAC CTT CTG ATC AAC TCT CAA GTC CGT CCA GAG CAG
TTG TAG CCG GAC AGA CTG AGT CAC CAG ATG GAA GAC TAG TTG AGA GTT CAG GCA GGT CTC GTC
Asn Ile Gly Leu Ser Asp Ser Val Val Tyr Leu Leu Ile Asn Ser Gln Val Arg Pro Glu Gln
N I G L S D S V V Y L L I N S Q V R P E Q
170 175 180 185 190
gtagggggatgtcactggccaggtggtccctggaggggagggaagcacccagcctgagaaaggcaagaaatatat
catccccctacagtgaccggtccaccagggacctcccctcccttcgtgggtcggactctttccgttctttatata
tggctcttttcttctttcttccttgtgttcacattcag
accgagaaaagaagaaagaaggaacacaagtgtaagtc
- IVS 5 –
cct gtcgc catgt aacac aaggt attcc caggt tctgt gggtt aggac gtggg tgtct ttcct accac agggc
gga cagcg gtaca ttgtg ttcca taagg gtcca agaca cccaa tcctg caccc acaga aagga tggtg tcccg
g (5)
t (32) |t (32)
| ||
agttt ctagt gttgc ctctt ctccc tgcag
tcaaa gatca caacg gagaa gaggg acgtc
(36,32,8,19) His=A
(38,32,31,1,5,8,18,20) Cys=T|
A=Thr G/A=Arg ||
571 | 585 600 615 | 630 ||
TTC GCT CAT GGA GTC CCG GAC CTG GCG CTG AAG GAC ATC GCC TGC AGC GAG GCC CTC CTG GAG CGC
AAG CGA GTA CCT CAG GGC CTG GAC CGC GAC TTC CTG TAG CGG ACG TCG CTC CGG GAG GAC CTC GCG
Phe Ala His Gly Val Pro Asp Leu Ala Leu Lys Asp Ile Ala Cys Ser Glu Ala Leu Leu Glu Arg
F A H G V P D L A L K D I A C S E A L L E R
191 195 200 205 210
C=Thr (36)
| T=Cys (28)
| | del (28)
| | | del(6,19,20)
| | | |------|
| | | | |------|
| | | | ||------|
| | | | ||------|
| | | | ||------|del (28)
| | | | || del || A=Ser (32)
645 | | | ||| | 675 || |
TTC ATC ATC TTC AGC CAG AGA CGC GGG GCA AAG ACG GTG CGC TAT GCC CTG TGC TCC CTC TCC CAG
AAG TAG TAG AAG TCG GTC TCT GCG CCC CGT TTC TGC CAC GCG ATA CGG GAC ACG AGG GAG AGG GTC
Phe Ile Ile Phe Ser Gln Arg Arg Gly Ala Lys Thr Val Arg Tyr Ala Leu Cys Ser Leu Ser Gln
F I I F S Q R R G A K T V R Y A L C S L S Q
215 220 225 230
||del T=Ile (41,38,36,31,4,20) Val=T
|C=Pro (19) G=Ser G=Gly (6,28) T=Cys|
705 720 || 735 | | 750 | |
GGC ACC CTA CAG TGG ATA GAA GAC ACT CTG TAT GCC AAC GTG GAC TTC TTC AAG CTC TTC CGT GTG
CCG TGG GAT GTC ACC TAT CTT CTG TGA GAC ATA CGG TTG CAC CTG AAG AAG TTC GAG AAG GCA CAC
Gly Thr Leu Gln Trp Ile Glu Asp Thr Leu Tyr Ala Asn Val Asp Phe Phe Lys Leu Phe Arg Val
G T L Q W I E D T L Y A N V D F F K L F R V
235 240 245 250 255 256
gtaag ggagg ggttt ggctg ctcgc caatt gcaag gtgat tcctg gggt
cattc cctcc ccaaa ccgac gagcg gttaa cgttc cacta aggac ccca
- IVS 6 -
c (19,28)
|
gg agttt tcaag catat aggag atcag actgt gccta tgtgt gtata tacct acaaa catat atata tttaa
cc tcaaa agttc gtata tcctc tagtc tgaca cggat acaca catat atgga tgttt gtata tatat aaatt
g (1)
| t (4)
| |
aaaat tgttt tactg tcaat tacag
tttta acaaa atgac agtta atgtc
(19) del
769 780 795 810 825 |
CTT CCC ACA CTC CTA GAC AGC CGT TCT CAA GGT ATC AAT CTG AGA TCT TGG GGA GGA ATA TTA TCT
GAA GGG TGT GAG GAT CTG TCG GCA AGA GTT CCA TAG TTA GAC TCT AGA ACC CCT CCT TAT AAT AGA
Leu Pro Thr Leu Leu Asp Ser Arg Ser Gln Gly Ile Asn Leu Arg Ser Trp Gly Gly Ile Leu Ser
L P T L L D S R S Q G I N L R S W G G I L S
257 260 265 270 275
840 855 858
GAT ATG TCA CCA AGA ATT CAA GAG gtgag tatcc tgatg gtagt aatta taatt tcatt atgtc tttcc
CTA TAC AGT GGT TCT TAA GTT CTC cactc atagg actac catca ttaat attaa agtaa tacag aaagg
Asp Met Ser Pro Arg Ile Gln Glu
D M S P R I Q E
280 285 286
accat ttacc ccact tatgt caaat aattt aattg tattt caaac ct
tggta aatgg ggtga ataca gttta ttaaa ttaac ataaa gtttg ga
- IVS 7 –
<------del ins tctgacc (34)------|
g gaagt caaac caaac gttgg agcat tggcc tcaca gcaga ttatg actct agctg cctta aaata acctg
c cttca gtttg gtttg caacc tcgta accgg agtgt cgtct aatac tgaga tcgac ggaat tttat tggac
t (28)
|
aagac tttgc cttgc cctag
ttctg aaacg gaacg ggatc
A=Pro (28) A=Asn (7,28)
859 870 | 885 | 915
TTT ATC CAT CGG CCG AGT ATG CAG GAC TTG CTG TGG GTG ACC AGG CCC CTC ATG CAG AAT GGT GGT
AAA TAG GTA GCC GGC TCA TAC GTC CTG AAC GAC ACC CAC TGG TCC GGG GAG TAC GTC TTA CCA CCA
Phe Ile His Arg Pro Ser Met Gln Asp Leu Leu Trp Val Thr Arg Pro Leu Met Gln Asn Gly Gly
F I H R P S M Q D L L W V T R P L M Q N G G
287 290 295 300 305
(38) Asp=A
G=Arg (19) T=Pro (28) |
| C=Gln (38) | T=ter |
| | T=Thr (19) | |T=Val |
| | | 945 960 975 | || |
CCA GAG ACC TTT ACA AAG CTG ATG GGC ATC CTG TCT GAC CTC CTG TGT GGC TAC CCC GAG GGA GGT
GGT CTC TGG AAA TGT TTC GAC TAC CCG TAG GAC AGA CTG GAG GAC ACA CCG ATG GGG CTC CCT CCA
Pro Glu Thr Phe Thr Lys Leu Met Gly Ile Leu Ser Asp Leu Leu Cys Gly Tyr Pro Glu Gly Gly
P E T F T K L M G I L S D L L C G Y P E G G
310 315 320 325 330
G=Cys (6,36) |--- del ------|
| G=Gly | T=ter
T=Trp (28) | | G=Asp (6)| |C=Thr
| 1005 | | | | 1035 ||| 1050
GGC TCT CGG GTG CTC TCC TTC AAC TGG TAT GAA GAC AAT AAC TAT AAG GCC TTT CTG GGG ATT GAC
CCG AGA GCC CAC GAG AGG AAG TTG ACC ATA CTT CTG TTA TTG ATA TTC CGG AAA GAC CCC TAA CTG
Gly Ser Arg Val Leu Ser Phe Asn Trp Tyr Glu Asp Asn Asn Tyr Lys Ala Phe Leu Gly Ile Asp
G S R V L S F N W Y E D N N Y K A F L G I D
335 340 345 350
T=ter (19) G=ter
1065 | 1080 | 1095 1099
TCC ACA AGG AAG GAT CCT ATC TAT TCT TAT GAC AGA AGA ACA A gtaag ttttc tgagt cctgc ttata
AGG TGT TCC TTC CTA GGA TAG ATA AGA ATA CTG TCT TCT TGT T cattc aaaag actca ggacg aatat
Ser Thr Arg Lys Asp Pro Ile Tyr Ser Tyr Asp Arg Arg Thr Thr
S T R K D P I Y S Y D R R T T
355 360 365 367
aattg gcctc tcatg ttggt taagt tgatg gttta acact tctag gtgaa accaa acctg gggtt gcatc tgtct
ttaac cggag agtac aacca attca actac caaat tgtga agatc cactt tggtt tggac cccaa cgtag acaga
tgtct tgctg agtgg
acaga acgac tcacc
- IVS 8 -
c (28)
|
tggat acact aatga ctata ttgag ttaca agcaa tgggg agttt ctgta aaatc tgtcc cttgt ctcct ggcag
tccta tgtga ttact gatat aactc aatgt tcgtt acccc tcaaa gacat tttag acagg gaaca gagga ccgtc
A=Lys (28)
1100 1110 1125 | 1155
CA TCC TTT TGT AAT GCA TTG ATC CAG AGC CTG GAG TCA AAT CCT TTA ACC AAA ATC GCT TGG AGG
GT AGG AAA ACA TTA CGT AAC TAG GTC TCG GAC CTC AGT TTA GGA AAT TGG TTT TAG CGA ACC TCC
Thr Ser Phe Cys Asn Ala Leu Ile Gln Ser Leu Glu Ser Asn Pro Leu Thr Lys Ile Ala Trp Arg
T S F C N A L I Q S L E S N P L T K I A W R
367 370 375 380 385
T=Val (2)
| T=ter (28)
1170 1185 1200 1215 | | 1230
GCG GCA AAG CCT TTG CTG ATG GGA AAA ATC CTG TAC ACT CCT GAT TCA CCT GCA GCA CGA AGG ATA
CGC CGT TTC GGA AAC GAC TAC CCT TTT TAG GAC ATG TGA GGA CTA AGT GGA CGT CGT GCT TCC TAT
Ala Ala Lys Pro Leu Leu Met Gly Lys Ile Leu Tyr Thr Pro Asp Ser Pro Ala Ala Arg Arg Ile
A A K P L L M G K I L Y T P D S P A A R R I
390 395 400 405 410
1239
CTG AAG AAT gtaag atccc agctg ggctt gcctt gtgta ccctg gacct cccag aagtg tgtgt gtgtg
GAC TTC TTA cattc taggg tcgac ccgaa cggaa cacat gggac ctgga gggtc ttcac acaca cacac
Leu Lys Asn
L K N
413
tgtgt gtgtg tgaga gagat gtgcc ttcct ggtag cacat ctc
acaca cacac actct ctcta cacgg aagga ccatc gtgta gag
- IVS 9 –
t gatag gggca gaaaa gacac accaa aagtt ctctc tcact tttct ctctg ttcgt gtctc tgtct tgatc
a ctatc cccgt ctttt ctgtg tggtt ttcaa gagag agtga aaaga gagac aagca cagag acaga actag
t (19,28)
|
tctgt ctggt tttag
agaca gacca aaatc
C=Pro
G=Arg (3,19,36)
|T=His (28)
C=Ser (28) || C=Ala (2,28)
1245 | 1260 || |1275 1290 1305
GCC AAC TCA ACT TTT GAA GAA CTG GAA CAC GTT AGG AAG TTG GTC AAA GCC TGG GAA GAA GTA GGG
CGG TTG AGT TGA AAA CTT CTT GAC CTT GTG CAA TCC TTC AAC CAG TTT CGG ACC CTT CTT CAT CCC
Ala Asn Ser Thr Phe Glu Glu Leu Glu His Val Arg Lys Leu Val Lys Ala Trp Glu Glu Val Gly
A N S T F E E L E H V R K L V K A W E E V G
414 415 420 425 430 435
G=Arg (2,28) c (28)
| del (7) |insc (19)
A=ter C=Ser | | del (28) (28) del || del (2,19
|1320 | 1335| | | 1350 1356 | || | 20)
CCC CAG ATC TGG TAC TTC TTT GAC AAC AGC ACA CAG ATG AAC ATG ATC AGA gtaag ggggg gttgg
GGG GTC TAG ACC ATG AAG AAA CTG TTG TCG TGT GTC TAC TTG TAC TAG TCT cattc ccccc caacc
Pro Gln Ile Trp Tyr Phe Phe Asp Asn Ser Thr Gln Met Asn Met Ile Arg
P Q I W Y F F D N S T Q M N M I R
440 445 450 452
aggat gggga gggga gggga ggagg aagcg gtggg ggcaa gaaag ttcca cttgt ttcct tttcc cagga aagag
tccta cccct cccct cccct cctcc ttcgc caccc ccgtt ctttc aaggt gaaca aagga aaagg gtcct ttctc
- IVS 10 –
ctat cctca atcac taaaa attag aaatg gctga agaac aagac caaag atcct atgga atttc taagc agagc