Peripherin/RDS-Gen (PRPH2) Last update 05.12.2005

According to (1), (2), and Keen, pers. comm. RefSeq: NM_000322, AL049843

Mutations: | ADRP, | Adult vitelliform macular degeneration, | CACD, | CRD, | COD, | Butterfly shaped pigment dystrophy, | ADRP + Bull´s Eye Maculopathy, | Adult dominant retinal degeneration, | AMD, | Digenic RP, | Foveomacular dystrophy, | Fundus flavimaculatus, | MD, | Pattern dystrophy, | Pseudovitelliform macular dystrophy, | RPA

| Polymorphisms

T: transmembrane domain

Nucleotide numbering

Aminoacid numbering

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

ggact ataaa ctgat caagc tgtga ttccg agacc cctgc cacca ctact gcatt cacgg ggatc ccagg ctagt

cctga tattt gacta gttcg acact aaggc tctgg ggacg gtggt gatga cgtaa gtgcc cctag ggtcc gatca

-150 -140 -130 -120 -110 -100 -90 -80

gggac tcgac atggg tagcc cccag ggcag ctccc tacag cttgg gccat ctgca ctttt cccaa ggccc taagt

ccctg agctg taccc atcgg gggtc ccgtc gaggg atgtc gaacc cggta gacgt gaaaa gggtt ccggg attca

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

ctccg cctct gggct cgtta aggtt tgggg tggga gctgt gctgt gggaa gcaac ccgga ctaca cttgg caagc

gaggc ggaga cccga gcaat tccaa acccc accct cgaca cgaca ccctt cgttg ggcct gatgt gaacc gttcg

C=Thr (3) T=Trp (5,4)

| 15 30 | 45 60

ATG GCG CTA CTG AAA GTC AAG TTT GAC CAG AAG AAG CGG GTC AAG TTG GCC CAA GGG CTC TGG CTC

TAC CGC GAT GAC TTT CAG TTC AAA CTG GTC TTC TTC GCC CAG TTC AAC CGG GTT CCC GAG ACC GAG

Met Ala Leu Leu Lys Val Lys Phe Asp Gln Lys Lys Arg Val Lys Leu Ala Gln Gly Leu Trp Leu

M A L L K V K F D Q K K R V K L A Q G L W L

1 5 10 15 20

G=Val (7)

del (6) T=Phe (62) | insC (8) del (54)

|| | 90 | | 105 | 120

ATG AAC TGG TTC TCC GTG TTG GCT GGC ATC ATC ATC TTC AGC CTA GGA CTG TTC CTG AAG ATT GAA

TAC TTG ACC AAG AGG CAC AAC CGA CCG TAG TAG TAG AAG TCG GAT CCT GAC AAG GAC TTC TAA CTT

Met Asn Trp Phe Ser Val Leu Ala Gly Ile Ile Ile Phe Ser Leu Gly Leu Phe Leu Lys Ile Glu

M N W F S V L A G I I I F S L G L F L K I E

25 30 35 40

T=Phe (9,5)

| T=ter (10,11,61) del

| | 150 165 180 195 |

CTC CGA AAG AGG AGC GAT GTG ATG AAT AAT TCT GAG AGC CAT TTT GTG CCC AAC TCA TTG ATA GGG

GAG GCT TTC TCC TCG CTA CAC TAC TTA TTA AGA CTC TCG GTA AAA CAC GGG TTG AGT AAC TAT CCC

Leu Arg Lys Arg Ser Asp Val Met Asn Asn Ser Glu Ser His Phe Val Pro Asn Ser Leu Ile Gly

L R K R S D V M N N S E S H F V P N S L I G

45 50 55 60 65

del (8)

|-| C=Arg (13)

/insAAGACAGA (8) T=Tyr (16) del (15)

----| 210 225 240 | 255 |-----

ATG GGG GTG CTA TCC TGT GTC TTC AAC TCG CTG GCT GGG AAG ATC TGC TAC GAC GCC CTG GAC CCA

TAC CCC CAC GAT AGG ACA CAG AAG TTG AGC GAC CGA CCC TTC TAG ACG ATG CTG CGG GAC CTG GGT

Met Gly Val Leu Ser Cys Val Phe Asn Ser Leu Ala Gly Lys Ile Cys Tyr Asp Ala Leu Asp Pro

M G V L S C V F N S L A G K I C Y D A L D P

70 75 80 85

T=Tyr (17) T=Val (19,58)

--| 270 285 300 | 315 | 330

GCC AAG TAT GCC AGA TGG AAG CCC TGG CTG AAG CCG TAC CTG GCT ATC TGT GTC CTC TTC AAC ATC

CGG TTC ATA CGG TCT ACC TTC GGG ACC GAC TTC GGC ATG GAC CGA TAG ACA CAG GAG AAG TTG TAG

Ala Lys Tyr Ala Arg Trp Lys Pro Trp Leu Lys Pro Tyr Leu Ala Ile Cys Val Leu Phe Asn Ile

A K Y A R W K P W L K P Y L A I C V L F N I

90 95 100 105 110

del (64)

| T=Leu (43)

del (19) | | G=Arg (20,61)

345 |-| 360 | | | 390

ATC CTC TTC CTT GTG GCT CTC TGC TGC TTT CTG CTT CGG GGC TCG CTG GAG AAC ACC CTG GGC CAA

TAG GAG AAG GAA CAC CGA GAG ACG ACG AAA GAC GAA GCC CCG AGC GAC CTC TTG TGG GAC CCG GTT

Ile Leu Phe Leu Val Ala Leu Cys Cys Phe Leu Leu Arg Gly Ser Leu Glu Asn Thr Leu Gly Gln

I L F L V A L C C F L L R G S L E N T L G Q

115 120 125 130

C=His (24)

|G=Cys (61,59) (26) G=Arg

|| ins TACT (21) |

|| |T=Trp (23,24) del (25) |del(27)

405 420 || || 435 | 450 | |-|

GGG CTC AAG AAC GGC ATG AAG TAC TAC CGG GAC ACA GAC ACC CCT GGC AGG TGT TTC ATG AAG AAG

CCC GAG TTC TTG CCG TAC TTC ATG ATG GCC CTG TGT CTG TGG GGA CCG TCC ACA AAG TAC TTC TTC

Gly Leu Lys Asn Gly Met Lys Tyr Tyr Arg Asp Thr Asp Thr Pro Gly Arg Cys Phe Met Lys Lys

G L K N G M K Y Y R D T D T P G R C F M K K

135 140 145 150

A=Ser (64)

| G=Gly (29)

A=Tyr (28) | T=Trp (30,31,55)

| A=Asp (29) | |A=Gln (32,61)

A=Asn (13) | | del |(65) || T=Val (46)

465 | 480 | | |-| | || | 525

ACC ATC GAC ATG CTG CAG ATC GAG TTC AAA TGC TGC GGC AAC AAC GGT TTT CGG GAC TGG TTT GAG

TGG TAG CTG TAC GAC GTC TAG CTC AAG TTT ACG ACG CCG TTG TTG CCA AAA GCC CTG ACC AAA CTC

Thr Ile Asp Met Leu Gln Ile Glu Phe Lys Cys Cys Gly Asn Asn Gly Phe Arg Asp Trp Phe Glu

T I D M L Q I E F K C C G N N G F R D W F E

155 160 165 170 175

del (8,26)

G=Arg (61) C=Ser (35,34) || ----> del ex. 2/3(36)

| C=Arg (16) | C=Pro (2,7,61,34) del (8)

| | | | 570 |-| 581

ATT CAG TGG ATC AGC AAT CGC TAC CTG GAC TTT TCC TCC AAA GAA GTC AAA GA gtgag tggct tccag

TAA GTC ACC TAG TCG TTA GCG ATG GAC CTG AAA AGG AGG TTT CTT CAG TTT CT cactc accga aggtc

Ile Gln Trp Ile Ser Asn Arg Tyr Leu Asp Phe Ser Ser Lys Glu Val Lys Asp

I Q W I S N R Y L D F S S K E V K D

180 185 190 194

tcctg gggtc tatga atata ttggg gacac tgagg ctcag gcctc tgacc agccc ctctc cccgc accca gtgcc

aggac cccag tctcg ataat aaccc ctgtg actcc gagtc cggag actgg tcggg gagag gggcg tgggt cacgg

ttttc ctctc catcg ggtgc acaac ttatt gctgc gtatg tgagg gtgta tcagg tggaa ccata

aaaag cagag gtagc ccacg tgttg aataa cgacg catac actcc cacat agtcc acctt ggtat

IVS 1 (+16807 bp)

attca ttttt ttgtc ttcag cgcct agaac agtga ctggc acgta gcggg cgcac agcaa atata tacca agtgt

taagt aaaaa aacag aagtc gcgga tcttg tcact gaccg tgcat cgccc gcgtg tcgtt tatat atggt tcaca

gcgag tgaat gacta ttcta ggttt ccaga ggcag gggtt gggag gaagt ggccc ctgtt gagaa gcccg ggaag

cgctc actta ctgat aagat ccaaa ggtct ccgtc cccaa ccctc cttca ccggg gacaa ctctt cgggc ccttc

T=Leu (60) (61,38) del

| G=Glu (37) A=Glu (39) |--

582 | | | |--- del (25)

cccat ctcca gctgt ctgtt tccct ttaag T CGA ATC AAG AGC AAC GTG GAT GGG CGG TAC CTG GTG

gggta gaggt cgaca gacaa aggga aattc A GCT TAG TTC TCG TTG CAC CTA CCC GCC ATG GAC CAC

Asp Arg Ile Lys Ser Asn Val Asp Gly Arg Tyr Leu Val

D R I K S N V D G R Y L V

194 200 205

A=Asp (25,37)

|ins (37)

|| T=Ser (40)

|| |G=Arg (41,61)

|| |T=Leu (58)

|| || A=Leu (28)

|| || | G=Gly (42)

|| || | |C=Thr (3)

|| || | || C=Arg (15)

|| || | || |A=Tyr (56)

|| || | || || A=Tyr (22) G=Arg (15)

|| || | || || C=Ser (29) |del (2)

|| || | || || | T=Ser (9,61) || T=Trp (15,44) ins 37bp (15)

|| || | || || | |T=Leu (2, || |A=Gln (13) | G=Asp (4)

------| || | || || | || 61) || || | |

------| | || | || || | 645 || ||-|| | |

GAC GGC GTC CCT TTC AGC TGC TGC AAT CCT AGC TCG CCA CGG CCC TGC ATC CAG TAT CAG ATC ACC

CTG CCG CAG GGA AAG TCG ACG ACG TTA GGA TCG AGC GGT GCC GGG ACG TAG GTC ATA GTC TAG TGG

Asp Gly Val Pro Phe Ser Cys Cys Asn Pro Ser Ser Pro Arg Pro Cys Ile Gln Tyr Gln Ile Thr

D G V P F S C C N P S S P R P C I Q Y Q I T

210 215 220 225

C=His (47)

insT (45,15) | G=Lys (47)

| T=Tyr (17) | A=Lys (33)

| | T=ter (37) | | C=Arg (37)

690 | 705 | | 720 | | 735 | 750

AAC AAC TCA GCA CAC TAC AGT TAC GAC CAC CAG ACG GAG GAG CTC AAC CTG TGG GTG CGT GGC TGC

TTG TTG AGT CGT GTG ATG TCA ATG CTG GTG GTC TGC CTC CTC GAG TTG GAC ACC CAC GCA CCG ACG

Asn Asn Ser Ala His Tyr Ser Tyr Asp His Gln Thr Glu Glu Leu Asn Leu Trp Val Arg Gly Cys

N N S A H Y S Y D H Q T E E L N L W V R G C

230 235 240 245 250

A=ter (32) A=Asp (20,61)

| | A=Ile (3)

765 | 780 795 | | 810

AGG GCT GCC CTG CTG AGC TAC TAC AGC AGC CTC ATG AAC TCC ATG GGT GTC GTC ACG CTC CTC ATT

TCC CGA CGG GAC GAC TCG ATG ATG TCG TCG GAG TAC TTG AGG TAC CCA CAG CAG TGC GAG GAG TAA

Arg Ala Ala Leu Leu Ser Tyr Tyr Ser Ser Leu Met Asn Ser Met Gly Val Val Thr Leu Leu Ile

R A A L L S Y Y S S L M N S M G V V T L L I

255 260 265 270

del (14)

|| t (48,57,61,12) ins7bp (14)

|| 828 | |

TGG CTC TTC GAG gtagg ccctg ggcca gctg ggggt agagg gtaag gagag cctcc ggtcc cattt gggtc

ACC GAG AAG CTC catcc gggac ccggt cgac cccca tctcc cattc ctctc ggagg ccagg gtaaa cccag

Trp Leu Phe Glu

W L F E

276

IVS 2 (5622 bp)

tgtgt tgagc actga ggaca gggca gcgtg gggca ggctg tcacc aaccc acact ccaca gtgct caggt tgagt

acaca actcg tgact cctgt cccgt cgcac cccgt ccgac agtgg ttggg tgtga ggtgt cacga gtcca actca

cctct ctggg accct caatt tgagg ctcct gtggt ttcct aatgg tccag ctccc agcga ttctc ccaga

ggaga gaccc tggga gttaa actcc gagga cacca aagga ttacc aggtc gaggg tcgct aagag ggtct

A=ter (37)

829 840 |

ttgcc tctaa atctc ctctc ccacc accag GTG ACC ATT ACA ATT GGG CTG CGC TAC CTA CAG ACG

aacgg agatt tagag gagag ggtgg tggtc CAC TGG TAA TGT TAA CCC GAC GCG ATG GAT GTC TGC

Val Thr Ile Thr Ile Gly Leu Arg Tyr Leu Gln Thr

V T I T I G L R Y L Q T

277 280 285

T=ter (50)

| C=Gln (52,58

| | A=Asp (3)

| | del (51) (52) Arg=G

| | | del (34) |

T=Leu (37) del (49) | | | | |

| 870 885 |-| | | |------| |

TCG CTG GAT GGT GTG TCC AAC CCC GAG GAA TCT GAG AGC GAG AGC GAG GGC TGG CTG CTG GAG AAG

AGC GAC CTA CCA CAC AGG TTG GGG CTC CTT AGA CTC TCG CTC TCG CTC CCG ACC GAC GAC CTC TTC

Ser Leu Asp Gly Val Ser Asn Pro Glu Glu Ser Glu Ser Glu Ser Glu Gly Trp Leu Leu Glu Lys

S L D G V S N P E E S E S E S E G W L L E K

290 295 300 305 310

T=Leu (68) A=ter (3) T=ter(63)

| 945 | 960 975 990 |

AGC GTG CCG GAG ACC TGG AAG GCC TTT CTG GAG AGT GTG AAG AAG CTG GGC AAG GGC AAC CAG GTG

TCG CAC GGC CTC TGG ACC TTC CGG AAA GAC CTC TCA CAC TTC TTC GAC CCG TTC CCG TTG GTC CAC

Ser Val Pro Glu Thr Trp Lys Ala Phe Leu Glu Ser Val Lys Lys Leu Gly Lys Gly Asn Gln Val

S V P E T W K A F L E S V K K L G K G N Q V

315 320 325 330

A=Asp (52,58,59)

1005 | 1020 1035 1048 1058

GAA GCC GAG GGC GCA GGC GCA GGC CAG GCC CCA GAG GCT GGC tgagg gccct ggggc ccctc ccctc

CTT CGG CTC CCG CGT CCG CGT CCG GTC CGG GGT CTC CGA CCG actcc cggga ccccg gggag gggag

Glu Ala Glu Gly Ala Gly Ala Gly Gln Ala Pro Glu Ala Gly

E A E G A G A G Q A P E A G

335 340 346

1068 1078 1088 1098 1108 1118 1128 1138

ccgaa cactg agaaa tagtg cactc caaga aacgt ggatc tcccc ctcat ccaac tccga aagtc tgaat ctccc

ggctt gtgac tcttt atcac gtgag gttct ttgca cctag agggg gagta ggttg aggct ttcag actta gaggg

a (14)

1148 1158 1168 1178 | 1198 1208

aagga gggca ccatc ttaca gagac tctcc ctgac ggtgg aattt aagtt taggg tccct aaaag cattt gacac

ttcct cccgt ggtag aatgt ctctg agagg gactg ccacc ttaaa ttcaa atccc aggga ttttc gtaaa ctgtg

1218 1228 1238 1248 1258 1268 1278 1288

acagt tgttg aacga ctgac ccaaa atgtg aatga agcta atgtg aatgt gagtg aagct ccctt caggc ccgct

tgtca acaac ttgct gactg ggttt tacac ttact tcgat tacac ttaca ctcac ttcga gggaa gtccg ggcga

1298 1308 1318 1328 1338 1348 1358

gccct aggat atgcc ctcct ggtga ctcgg gggct gtctc agacg actag cccag gaccc atctt tctca cacgg

cggga tccta tacgg gagga ccact gagcc cccga cagag tctgc tgatc gggtc ctggg tagaa agagt gtgcc

1368 1378 1388 1398 1408 1418 1428 1438

attta gtccc accct atggc cactg gccgt atctg agggc tgctc ccctt ttaga attta cctct tatga gctcc

taaat caggg tggga taccg gtgac cggca tagac tcccg acgag gggaa aatct taaat ggaga atact cgagg

1448 1458 1468 1478 1488 1498 1508

atgtt gcttc actct atcca aagtg tcact tggtg cataa gcaca gaaat ctgaa aaatg gccat gttgt ctttt

tacaa cgaag tgaga taggt ttcac agtga accac gtatt cgtgt cttta gactt tttac cggta caaca gaaaa

(14)g

1518 1528 1538 1548 1558 1568 1578 |

ttttt ttttt ttttt aatgc caaga ttgac aggtt ggccg tttgc ttaat gccag aagtt ggggg aaagt tacac

aaaaa aaaaa aaaaa ttacg gttct aactg tccaa ccggc aaacg aatta cggtc ttcaa ccccc tttca atgtg

1598 1608 1618 1628 1638 1648 1658

ttttc taaga ataat ggact cttaa ggcat tgagg gctct aaaca ggatt cttta atcat ggagc aagag aattt

aaaag attct tatta cctga gaatt ccgta actcc cgaga tttgt cctaa gaaat tagta cctcg ttctc ttaaa

1668 1678 1688 1698 1708 1718 1728 1738

caagg caggg gattt tatcc cccac caaaa acaca gtgaa aggcc tgctt ttgtg tccca ttcac atgcc ctcgg

gttcc gtccc ctaaa atagg gggtg gtttt tgtgt cactt tccgg acgaa aacac agggt aagtg tacgg gagcc

c (14)

1748 1758 1768 1778 1788 1798 |

tcact gagtc tggag tgaac cacgg gttga ggaag tcagg ctgtt ggcgt gtccc agcac cacac catcc ctaaa

agtga ctcag acctc acttg gtgcc caact ccttc agtcc gacaa ccgca caggg tcgtg gtgtg gtagg gattt

1818 1828 1838 1848 1858 1868 1878 1888

gtgcc aggtg atctc ctgtg gctca tcggt ggaag cagtg gggta ggctg ctgcc ctgct gtgga agagg agcaa

cacgg tccac tagag gacac cgagt agcca ccttc gtcac cccat ccgac gacgg gacga cacct tctcc tcgtt

del (14) c (14)

|---|1898 1908 1918 1928 1938 | 1948 1958

caatc agaca tgagt ccacc ctttg gagac caagc ctcag ctctt ggtgg gccaa gggac accca cacag gtggc

gttag tctgt actca ggtgg gaaac ctctg gttcg gagtc gagaa ccacc cggtt ccctg tgggt gtgtc caccg

1968 1978 1988 1998 2008 2018 2028 2038

catca cagcc ccatg gacaa cacta attgt ccaca gcaaa gggca aggaa tcctc tggga gcttc ttccg tttct

gtagt gtcgg ggtac ctgtt gtgat taaca ggtgt cgttt cccgt tcctt aggag accct cgaag aaggc aaaga

c (14)

| 2058 2068 2078 2088 2098 2108

tcccc caaga taccc atctt gaaaa acact atttc tggaa tgctt ctgca tcaaa ggaga ttctt tgaga tagcc