(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000329.2 in the RPE65 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008472.1, covering RPE65 transcript NM_000329.2.
(upstream sequence)
. . . . . g.5054
tccttcttcattctgcagttggtgccagaactctggatcctgaactggaagaaa c.-1
. | 02 . . . . . g.6302
ATGTCTATCCA | GGTTGAGCATCCTGCTGGTGGTTACAAGAAACTGTTTGAAACTGTGGAG c.60
M S I Q | V E H P A G G Y K K L F E T V E p.20
. . . | 03 . . . g.8125
GAACTGTCCTCGCCGCTCACAGCTCATGTAACAG | GCAGGATCCCCCTCTGGCTCACCGGC c.120
E L S S P L T A H V T G | R I P L W L T G p.40
. . . . . . g.8185
AGTCTCCTTCGATGTGGGCCAGGACTCTTTGAAGTTGGATCTGAGCCATTTTACCACCTG c.180
S L L R C G P G L F E V G S E P F Y H L p.60
. . . . . . g.8245
TTTGATGGGCAAGCCCTCCTGCACAAGTTTGACTTTAAAGAAGGACATGTCACATACCAC c.240
F D G Q A L L H K F D F K E G H V T Y H p.80
| 04 . . . . . . g.10131
AGAAG | GTTCATCCGCACTGATGCTTACGTACGGGCAATGACTGAGAAAAGGATCGTCATA c.300
R R | F I R T D A Y V R A M T E K R I V I p.100
. . . . . | 05 . g.10294
ACAGAATTTGGCACCTGTGCTTTCCCAGATCCCTGCAAGAATATATTTTCCAG | GTTTTTT c.360
T E F G T C A F P D P C K N I F S R | F F p.120
. . . . . . g.10354
TCTTACTTTCGAGGAGTAGAGGTTACTGACAATGCCCTTGTTAATGTCTACCCAGTGGGG c.420
S Y F R G V E V T D N A L V N V Y P V G p.140
. . . . . . g.10414
GAAGATTACTACGCTTGCACAGAGACCAACTTTATTACAAAGATTAATCCAGAGACCTTG c.480
E D Y Y A C T E T N F I T K I N P E T L p.160
. | 06 . . . . . g.14004
GAGACAATTAAGCAG | GTTGATCTTTGCAACTATGTCTCTGTCAATGGGGCCACTGCTCAC c.540
E T I K Q | V D L C N Y V S V N G A T A H p.180
. . . . . . g.14064
CCCCACATTGAAAATGATGGAACCGTTTACAATATTGGTAATTGCTTTGGAAAAAATTTT c.600
P H I E N D G T V Y N I G N C F G K N F p.200
. . . . | 07 . . g.15334
TCAATTGCCTACAACATTGTAAAGATCCCACCACTGCAAGCAG | ACAAGGAAGATCCAATA c.660
S I A Y N I V K I P P L Q A D | K E D P I p.220
. . . . . . g.15394
AGCAAGTCAGAGATCGTTGTACAATTCCCCTGCAGTGACCGATTCAAGCCATCTTACGTT c.720
S K S E I V V Q F P C S D R F K P S Y V p.240
| 08 . . . . . . g.15691
CATAG | TTTTGGTCTGACTCCCAACTATATCGTTTTTGTGGAGACACCAGTCAAAATTAAC c.780
H S | F G L T P N Y I V F V E T P V K I N p.260
. . . . . . g.15751
CTGTTCAAGTTCCTTTCTTCATGGAGTCTTTGGGGAGCCAACTACATGGATTGTTTTGAG c.840
L F K F L S S W S L W G A N Y M D C F E p.280
. | 09 . . . . g.15920
TCCAATGAAACCATGGGG | GTTTGGCTTCATATTGCTGACAAAAAAAGGAAAAAGTACCTC c.900
S N E T M G | V W L H I A D K K R K K Y L p.300
. . . . . . g.15980
AATAATAAATACAGAACTTCTCCTTTCAACCTCTTCCATCACATCAACACCTATGAAGAC c.960
N N K Y R T S P F N L F H H I N T Y E D p.320
. . . | 10 . . g.16665
AATGGGTTTCTGATTGTGGATCTCTGCTGCTGGAAAGG | ATTTGAGTTTGTTTATAATTAC c.1020
N G F L I V D L C C W K G | F E F V Y N Y p.340
. . . . . . g.16725
TTATATTTAGCCAATTTACGTGAGAACTGGGAAGAGGTGAAAAAAAATGCCAGAAAGGCT c.1080
L Y L A N L R E N W E E V K K N A R K A p.360
. . . . | 11 . g.23386
CCCCAACCTGAAGTTAGGAGATATGTACTTCCTTTGAATATTGACAAG | GCTGACACAGGC c.1140
P Q P E V R R Y V L P L N I D K | A D T G p.380
. . . . . . g.23446
AAGAATTTAGTCACGCTCCCCAATACAACTGCCACTGCAATTCTGTGCAGTGACGAGACT c.1200
K N L V T L P N T T A T A I L C S D E T p.400
. . . . | 12 . . g.23600
ATCTGGCTGGAGCCTGAAGTTCTCTTTTCAGGGCCTCGTCAAG | CATTTGAGTTTCCTCAA c.1260
I W L E P E V L F S G P R Q A | F E F P Q p.420
. . . . . . g.23660
ATCAATTACCAGAAGTATTGTGGGAAACCTTACACATATGCGTATGGACTTGGCTTGAAT c.1320
I N Y Q K Y C G K P Y T Y A Y G L G L N p.440
. | 13 . . . . g.23825
CACTTTGTTCCAGATAGG | CTCTGTAAGCTGAATGTCAAAACTAAAGAAACTTGGGTTTGG c.1380
H F V P D R | L C K L N V K T K E T W V W p.460
. . . . . . g.23885
CAAGAGCCTGATTCATACCCATCAGAACCCATCTTTGTTTCTCACCCAGATGCCTTGGAA c.1440
Q E P D S Y P S E P I F V S H P D A L E p.480
. | 14 . . . . . g.25082
GAAGATGATG | GTGTAGTTCTGAGTGTGGTGGTGAGCCCAGGAGCAGGACAAAAGCCTGCT c.1500
E D D G | V V L S V V V S P G A G Q K P A p.500
. . . . . . g.25142
TATCTCCTGATTCTGAATGCCAAGGACTTAAGTGAAGTTGCCCGGGCTGAAGTGGAGATT c.1560
Y L L I L N A K D L S E V A R A E V E I p.520
. . . . g.25184
AACATCCCTGTCACCTTTCATGGACTGTTCAAAAAATCTTGA c.1602
N I P V T F H G L F K K S X p.533
. . . . . . g.25244
gcatactccagcaagatatgtttttggtagcaaaactgagaaaatcagcttcaggtctgc c.*60
. . . . . . g.25304
aatcaaattctgttcaattttagcctgctatatgtcatggttttaacttgcagatgcgca c.*120
. . . . . . g.25364
caattttgcaatgttttacagaaagcactgagttgagcaagcaattcctttatttaaaaa c.*180
. . . . . . g.25424
aaaaagtacgtatttagataatcatacttcctctgtgagacaggccataactgaaaaact c.*240
. . . . . . g.25484
cttaaatatttagcaatcaaataggaaatgaatgtggacttactaaatggcttttaattc c.*300
. . . . . . g.25544
ctattataagagcatattttaggtacctatctgctccaattatatttttaacatttaaaa c.*360
. . . . . . g.25604
accaaagtcctctacacttgatttatattatatgtggctttgctgagtcaaggaagtatc c.*420
. . . . . . g.25664
atgcaataaggcttaattactaaatgtcaaaccaaactttttctcaaaccagggactatc c.*480
. . . . . . g.25724
atctaagattaattacagtaattattttgcgtatacgtaactgctcaaagattatgaatc c.*540
. . . . . . g.25784
ttatgaatgttaacctttccgtttattacaagcaagtactattatttctgattttataat c.*600
. . . . . . g.25844
aagaaaatctgtgtttaatcaactgaggcctctcaaccaaataacatctcagagattaag c.*660
. . . . . . g.25904
ttatatattaaaagcttatgtaacataaaagcaagtacatatagtagtgactatatttaa c.*720
. . . . . . g.25964
aaaaacagcataaaatgcttaaaaatgtaatatttactaaaatcagattatgggataatg c.*780
. . . . . . g.26024
ttgcaggattatactttattgcatcttttttgtttaattgtatttaagcattgtgcaatc c.*840
. . . . . . g.26084
acttgggaaaaatattaaattattaacattgaggtattaatacattttaagccttttgtt c.*900
. . . . . g.26136
tttaaatttcttttcttccagagattgtttaaaaataaatattgacaaaaat c.*952
(downstream sequence)
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