(used for variant description)
(last modified July 16, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000276.3 in the OCRL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008638.1, covering OCRL transcript NM_000276.3.
(upstream sequence)
. . . . g.5045
tctcagctcccagctccccgctcccggctcccggcgcccggcgcc c.-121
. . . . . . g.5105
cggcgcggagctgttcctcaaacgacacgcagccgaggtgggtgggtgtggggacgcggg c.-61
. . . . . . g.5165
agccagtgtcgtcggatcggcccgcagtccgctgtcctgctgagcccggaggccgcctgg c.-1
. . . | 02 . . g.5490
ATGGAGCCGCCGCTCCCGGTCGGAGCCCAGCCGCTTGCC | ACTGTCGAGGGTATGGAGATG c.60
M E P P L P V G A Q P L A | T V E G M E M p.20
. . . . . | 03 g.9684
AAGGGTCCTCTCCGGGAGCCCTGCGCCCTGACCCTAGCCCAGAGGAACGGGCAATATGA | G c.120
K G P L R E P C A L T L A Q R N G Q Y E | p.40
. . . . . . g.9744
TTAATAATCCAGTTGCATGAGAAGGAACAGCATGTTCAAGATATCATTCCTATAAATAGC c.180
L I I Q L H E K E Q H V Q D I I P I N S p.60
. | 04 . . . | 05 g.22052
CACTTCAGATGTGTTCAAG | AAGCAGAAGAAACTCTTTTGATTGACATAGCTTCTAACA | GT c.240
H F R C V Q E | A E E T L L I D I A S N S | p.80
. . . . . . g.22112
GGCTGCAAAATTCGGGTTCAGGGGGACTGGATCAGAGAGCGCCGCTTTGAAATCCCTGAT c.300
G C K I R V Q G D W I R E R R F E I P D p.100
. . . . | 06 . g.22597
GAGGAACACTGTTTGAAGTTCCTCTCAGCTGTCCTTGCTGCTCAGAAAG | CTCAGTCACAG c.360
E E H C L K F L S A V L A A Q K A | Q S Q p.120
. . . . . . g.22657
CTTCTTGTTCCAGAGCAAAAGGACTCATCTAGCTGGTACCAGAAATTAGACACTAAGGAC c.420
L L V P E Q K D S S S W Y Q K L D T K D p.140
. | 07 . . . . g.23399
AAACCTTCTGTTTTTTCAG | GGCTTCTTGGATTTGAAGACAATTTTTCTTCTATGAATTTG c.480
K P S V F S G | L L G F E D N F S S M N L p.160
. . . . . . g.23459
GACAAGAAAATAAATTCACAAAATCAGCCTACTGGGATTCATCGGGAACCCCCACCTCCA c.540
D K K I N S Q N Q P T G I H R E P P P P p.180
. . | 08 . . . . g.23605
CCCTTTTCAGTGAATAAAAT | GCTTCCACGTGAAAAAGAAGCTTCTAACAAGGAGCAGCCC c.600
P F S V N K M | L P R E K E A S N K E Q P p.200
. . . . . . g.23665
AAAGTGACCAACACCATGCGGAAGCTCTTTGTACCAAATACCCAATCTGGGCAGCGGGAG c.660
K V T N T M R K L F V P N T Q S G Q R E p.220
. . . . . . g.23725
GGTCTCATCAAACATATCCTGGCAAAGCGAGAGAAAGAATATGTCAACATTCAGACTTTC c.720
G L I K H I L A K R E K E Y V N I Q T F p.240
| 09 . . . . . . g.25333
AG | ATTTTTTGTTGGAACTTGGAATGTGAATGGCCAGTCTCCAGATAGCGGGTTAGAACCT c.780
R | F F V G T W N V N G Q S P D S G L E P p.260
. . . . | 10 . . g.25920
TGGCTGAACTGTGATCCCAATCCTCCTGATATCTACTGCATTGG | ATTCCAAGAACTGGAC c.840
W L N C D P N P P D I Y C I G | F Q E L D p.280
. . . . . . g.25980
TTGAGCACAGAAGCCTTCTTCTACTTTGAATCTGTGAAGGAACAAGAATGGTCCATGGCT c.900
L S T E A F F Y F E S V K E Q E W S M A p.300
. . . | 11 . . g.27130
GTAGAGAGAGGTTTGCATTCCAAAGCCAAGTATAAGAAA | GTTCAACTGGTGCGCCTTGTT c.960
V E R G L H S K A K Y K K | V Q L V R L V p.320
. . . . . . g.27190
GGGATGATGCTTCTTATATTTGCCAGAAAGGATCAGTGTCGATACATTCGTGATATTGCT c.1020
G M M L L I F A R K D Q C R Y I R D I A p.340
. . . | 12 . . . g.27348
ACAGAAACAGTTGGAACTGGAATCATGGGGAAAATG | GGAAACAAAGGTGGGGTAGCTGTG c.1080
T E T V G T G I M G K M | G N K G G V A V p.360
. . . . . . g.27408
AGATTTGTATTTCACAACACCACCTTTTGCATTGTCAATTCCCATCTGGCTGCACACGTG c.1140
R F V F H N T T F C I V N S H L A A H V p.380
. . . . . . g.27468
GAGGACTTTGAGAGAAGGAATCAAGATTATAAGGACATTTGTGCGAGAATGAGTTTTGTG c.1200
E D F E R R N Q D Y K D I C A R M S F V p.400
. . . . | 13 . . g.30513
GTCCCAAATCAGACCCTCCCGCAGTTGAACATCATGAAACATGA | GGTTGTCATTTGGTTG c.1260
V P N Q T L P Q L N I M K H E | V V I W L p.420
. . . . . . g.30573
GGAGATTTGAATTATAGACTTTGCATGCCTGATGCCAATGAGGTGAAAAGTCTTATTAAT c.1320
G D L N Y R L C M P D A N E V K S L I N p.440
. . . | 14 . . . g.32003
AAGAAAGACCTTCAGAGACTCTTGAAATTCGACCAG | CTAAATATTCAGCGCACACAGAAA c.1380
K K D L Q R L L K F D Q | L N I Q R T Q K p.460
. . . . . . g.32063
AAAGCTTTTGTTGACTTCAATGAAGGGGAAATCAAGTTCATCCCCACTTATAAGTATGAC c.1440
K A F V D F N E G E I K F I P T Y K Y D p.480
. . | 15 . . . . g.34023
TCTAAAACAGACCGGTGGGATTCCAG | TGGGAAATGCCGGGTTCCAGCCTGGTGTGACCGA c.1500
S K T D R W D S S | G K C R V P A W C D R p.500
. . . . . . g.34083
ATTCTTTGGAGAGGAACAAATGTTAATCAGCTTAATTATCGGAGTCACATGGAACTGAAA c.1560
I L W R G T N V N Q L N Y R S H M E L K p.520
. . . . | 16 . . g.39883
ACCAGCGACCACAAGCCTGTTAGCGCCCTCTTCCATATTGGG | GTGAAGGTTGTGGATGAA c.1620
T S D H K P V S A L F H I G | V K V V D E p.540
. . . . . . g.39943
CGAAGGTACCGGAAAGTCTTTGAAGATAGTGTACGCATCATGGACAGAATGGAAAATGAC c.1680
R R Y R K V F E D S V R I M D R M E N D p.560
. . . | 17 . . . g.40649
TTCCTTCCTTCCTTAGAACTCAGCAGGAGGGAG | TTTGTGTTTGAAAATGTGAAGTTTCGG c.1740
F L P S L E L S R R E | F V F E N V K F R p.580
. . . . . . g.40709
CAACTACAAAAGGAGAAGTTCCAGATCAGCAACAATGGACAGGTTCCCTGCCATTTTTCT c.1800
Q L Q K E K F Q I S N N G Q V P C H F S p.600
. . . . . . g.40769
TTCATCCCTAAACTTAATGACAGCCAGTACTGCAAGCCATGGCTTCGGGCTGAACCTTTT c.1860
F I P K L N D S Q Y C K P W L R A E P F p.620
. | 18 . . . . g.41083
GAGGGCTACTTGGAGCCAA | ATGAGACAGTGGACATTTCTCTTGATGTGTATGTCAGCAAA c.1920
E G Y L E P N | E T V D I S L D V Y V S K p.640
. . . . . . g.41143
GACTCTGTAACCATCCTGAACTCGGGAGAAGATAAGATTGAAGATATTCTCGTCCTTCAC c.1980
D S V T I L N S G E D K I E D I L V L H p.660
. . . . . . g.41203
CTGGATCGAGGCAAAGATTACTTCTTGACTATCAGTGGAAATTACCTCCCAAGTTGTTTT c.2040
L D R G K D Y F L T I S G N Y L P S C F p.680
. . . . . . g.41263
GGCACATCCTTAGAGGCTCTGTGCCGTATGAAAAGACCAATCCGAGAAGTTCCTGTTACC c.2100
G T S L E A L C R M K R P I R E V P V T p.700
. | 19 . . | 20 . . g.51748
AAACTCATAGACTTG | GAAGAAGACAGCTTCCTAGAAAAG | GAGAAATCCCTTCTGCAAATG c.2160
K L I D L | E E D S F L E K | E K S L L Q M p.720
. . . . . . g.51808
GTTCCTTTGGATGAAGGTGCCAGTGAGAGACCCCTTCAGGTTCCCAAGGAGATCTGGCTT c.2220
V P L D E G A S E R P L Q V P K E I W L p.740
. . . | 21 . . . g.52928
CTAGTAGATCACCTATTCAAATACGCCTGTCACCAG | GAGGACCTGTTCCAGACCCCTGGA c.2280
L V D H L F K Y A C H Q | E D L F Q T P G p.760
. . . . . . g.52988
ATGCAGGAAGAGCTCCAGCAGATCATTGATTGTCTGGATACCAGCATTCCTGAGACAATC c.2340
M Q E E L Q Q I I D C L D T S I P E T I p.780
| 22 . . . . . . g.53670
C | CTGGCAGCAACCACTCTGTGGCTGAAGCACTGCTCATTTTCTTGGAAGCCCTGCCAGAG c.2400
P | G S N H S V A E A L L I F L E A L P E p.800
. . . . . . g.53730
CCAGTCATCTGTTACGAGCTGTATCAGCGATGTCTTGACTCTGCTTATGATCCCCGGATC c.2460
P V I C Y E L Y Q R C L D S A Y D P R I p.820
| 23 . . . . . g.54621
TGCCGACAG | GTGATCTCCCAGCTTCCGAGATGCCATAGAAATGTTTTCCGTTACTTGATG c.2520
C R Q | V I S Q L P R C H R N V F R Y L M p.840
. . . . . . g.54681
GCATTCCTTCGAGAACTCTTAAAATTCTCTGAATACAATAGCGTCAATGCCAACATGATC c.2580
A F L R E L L K F S E Y N S V N A N M I p.860
| 24 . . . . . . g.54930
G | CTACTCTCTTCACTAGTCTTCTCCTGAGGCCTCCACCCAACCTTATGGCAAGACAGACT c.2640
A | T L F T S L L L R P P P N L M A R Q T p.880
. . . . . . g.54990
CCAAGTGACCGCCAGCGTGCTATTCAGTTCCTTCTGGGCTTTCTGCTTGGGAGCGAAGAA c.2700
P S D R Q R A I Q F L L G F L L G S E E p.900
g.54996
GACTAA c.2706
D X p.901
. . . . . . g.55056
ggcttttactgttctctgatattctagaagcagacgatctcgggctccaagtatttcaga c.*60
. . . . . . g.55116
atgatttaaaaagtcatgccacaggaagggtctattgcagaatttcaagttctgtttata c.*120
. . . . . . g.55176
gtaaaaaggaagagcgtttcctaatccctcctttaccatatcctacacagaaaaatactt c.*180
. . . . . . g.55236
ttagacttatattgccaagccaaagttaccatattttggtgtttttgtgttttctcttta c.*240
. . . . . . g.55296
taaggcaaaaagatctgtatttacactccttcacctagggatgtgtttgttgccctccta c.*300
. . . . . . g.55356
cccaattgtcatgattgtccttagtaccctaggcctagattctgagatcttcccattcta c.*360
. . . . . . g.55416
ggcctacaagcactacttgctgtagctgagacttgtctagagtcctttgttttgcacttt c.*420
. . . . . . g.55476
tgacccaccccttcctggatcactcctttgcactccactcccctcgttctgtcactttga c.*480
. . . . . . g.55536
acgaagtctgagtgaggctagtgactccttgggtgtcctcaacagtgaattcactgtctg c.*540
. . . . . . g.55596
cgtgcagttattacatgcatttgtgcatttctactacaatggcatctttatgtctctgta c.*600
. . . . . . g.55656
acattggccttttcatggctccacactgggtggaaccatattctcttagatcacatttag c.*660
. . . . . . g.55716
tagcataactgtagggactattagagatggcatctcatcgatgagagagaatcacaatca c.*720
. . . . . . g.55776
gaatggaagcactttgagtatctgaagagtgagagcattcatgtttgacaggtcctgctt c.*780
. . . . . . g.55836
cccactatccttttcctgttattattcaaattttacacaaggactaatcctgggtgtctc c.*840
. . . . . . g.55896
tgagacccatctcctgcctagacatccacctccagagcaacactggccccacagtaaaag c.*900
. . . . . . g.55956
aggaagtcttgtacctcaggcaggcccatctagagctattgctccttcccacagcaaagg c.*960
. . . . . . g.56016
tattgtggatgacccttagaatccattctctggtcttctgaaataccaagggcagatgtc c.*1020
. . . . . . g.56076
acctccttcctcagcaggactgactctgggctctacaaccagctccttcacataaagggt c.*1080
. . . . . . g.56136
ttagagactccccttggctcccagtcaccatatccagtgttgtgtaaagagactggccaa c.*1140
. . . . . . g.56196
caggaccaaccaagcaccttacctctcccatacaagatgaccctctgagcttttcattta c.*1200
. . . . . . g.56256
ttcaagctctgtggtacagcctttttttaaaataaattaatctatattggttgacaaaca c.*1260
. . . . . . g.56316
agccaccaaccactgactgcaaaactgcctgatgcagttgggttcctcctggttttcttt c.*1320
. . . . . . g.56376
tgttacaaccacccttgcctgtttacattaattgcaaggagcataacgtacaggctgtat c.*1380
. . . . . . g.56436
gtacaatcctgggcattgactctgtgacatttctagcatatccaaggcaccaccagtgat c.*1440
. . . . . . g.56496
ttctcctgtttcttggtgggggtgggggggaaggtacgtattctgcaatatggctaaacc c.*1500
. . . . . . g.56556
ctttcctgattgagagttaaagcaataggagtcaagttactggtgccacagatctggagg c.*1560
. . . . . . g.56616
tatgataggtcaggggctaggtgttgaacttagttaatggaagactgagagcagaacagg c.*1620
. . . . . . g.56676
tttgtcatctccgcaaggccagaaagtgatcacaaaaagaggcagatgatagacactggg c.*1680
. . . . . . g.56736
gtagggtcataccacagggaaatacctttcctgggcttgttttctagcatatcactgacc c.*1740
. . . . . . g.56796
tgggatctttgggtgatcaagggtgtggttagtggaggctctgtgctgcacgtatgcagt c.*1800
. . . . . . g.56856
atcctatctctttctacatcagatcaaaacactaagttggtgtactgcctcgaccttttt c.*1860
. . . . . . g.56916
tcagctcatcctggaacatatacagagttgagagttttagacaatctctaggtagaggag c.*1920
. . . . . . g.56976
acaagatgtagacccagacagaagaaatctgcttccctaccatggctattccagcacccc c.*1980
. . . . . . g.57036
aacctgtaattgccaagtcctctaaggtactaatttgtagctgctctgaagtaaggattt c.*2040
. . . . . . g.57096
cggattcagctggtagggaaagactctgcacctgctgtcttagggaagaaatggttcaaa c.*2100
. . . . . . g.57156
tccatgtggtgacattgcattagtctccctttcactgttttcttattctgtaattgtttg c.*2160
. . . . . . g.57216
ttatatttcccaaaaacgtcttgatcactaagcaaagctgctagtgggattctatatttc c.*2220
. . . . . . g.57276
gtgtcatcttttttattataatttattgcaaatttttttctgaataaatatatgttgtgt c.*2280
g.57282
gaaaaa c.*2286
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21c
©2004-2019 Leiden University Medical Center