(used for variant description)
(last modified March 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001008211.1 in the OPTN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012876.1, covering OPTN transcript NM_001008211.1.
(upstream sequence)
. . . g.5033
ggcgcgggcagggagcggctggctgtcagctga c.-421
. . . . . . g.5093
gccgcgctgggcggggtcgccaggccgcgcatcagccctaggcaccccagtcccggctgc c.-361
. . . . . . g.5153
cccctccgccaccgccgccgcccgccggcaggttccctggtcagcgtcccatcccggtcg c.-301
. . . . . . g.5213
ggagttctctccaggcggcacgatgccgaggaaacagtgaccctgagcgaagccaagccg c.-241
. | 02. . . . . g.13108
ggcggcag | gtgtggctttgatagctggtggtgccacttcctggccttggatgagccgtac c.-181
. . . . . . g.13168
gcctctgtaaacccaacttcctcacctttgaaacagctgcctggttcagcattaatgaag c.-121
. . . . | 03 . g.13900
attagtcagtgacaggcctggtgtgctgagtccgcacata | gaagaatcaaaaatgtccaa c.-61
. . . . | 04 . . g.14041
aatgtaactggagagaaagtgggcaacttttgga | gtgacttttccacaggaacttctgca c.-1
. . . . . . g.14101
ATGTCCCATCAACCTCTCAGCTGCCTCACTGAAAAGGAGGACAGCCCCAGTGAAAGCACA c.60
M S H Q P L S C L T E K E D S P S E S T p.20
. . . . . . g.14161
GGAAATGGACCCCCCCACCTGGCCCACCCAAACCTGGACACGTTTACCCCGGAGGAGCTG c.120
G N G P P H L A H P N L D T F T P E E L p.40
. . . . | 05 . . g.15206
CTGCAGCAGATGAAAGAGCTCCTGACCGAGAACCACCAGCTGAAAG | AAGCCATGAAGCTA c.180
L Q Q M K E L L T E N H Q L K E | A M K L p.60
. . . . . . g.15266
AATAATCAAGCCATGAAAGGGAGATTTGAGGAGCTTTCGGCCTGGACAGAGAAACAGAAG c.240
N N Q A M K G R F E E L S A W T E K Q K p.80
. . . . . . g.15326
GAAGAACGCCAGTTTTTTGAGATACAGAGCAAAGAAGCAAAAGAGCGTCTAATGGCCTTG c.300
E E R Q F F E I Q S K E A K E R L M A L p.100
. . . . . . g.15386
AGTCATGAGAATGAGAAATTGAAGGAAGAGCTTGGAAAACTAAAAGGGAAATCAGAAAGG c.360
S H E N E K L K E E L G K L K G K S E R p.120
| 06 . . . . . g.17422
TCATCTGAG | GACCCCACTGATGACTCCAGGCTTCCCAGGGCCGAAGCGGAGCAGGAAAAG c.420
S S E | D P T D D S R L P R A E A E Q E K p.140
. . . . . . g.17482
GACCAGCTCAGGACCCAGGTGGTGAGGCTACAAGCAGAGAAGGCAGACCTGTTGGGCATC c.480
D Q L R T Q V V R L Q A E K A D L L G I p.160
. . . . . . g.17542
GTGTCTGAACTGCAGCTCAAGCTGAACTCCAGCGGCTCCTCAGAAGATTCCTTTGTTGAA c.540
V S E L Q L K L N S S G S S E D S F V E p.180
. | 07 . . . . . g.21233
ATTAGGATGGCT | GAAGGAGAAGCAGAAGGGTCAGTAAAAGAAATCAAGCATAGTCCTGGG c.600
I R M A | E G E A E G S V K E I K H S P G p.200
. . | 08 . . . . g.23840
CCCACGAGAACAGTCTCCACTGGCAC | GGCATTGTCTAAATATAGGAGCAGATCTGCAGAT c.660
P T R T V S T G T | A L S K Y R S R S A D p.220
. . . . . . g.23900
GGGGCCAAGAATTACTTCGAACATGAGGAGTTAACTGTGAGCCAGCTCCTGCTGTGCCTA c.720
G A K N Y F E H E E L T V S Q L L L C L p.240
. . . . . | 09 g.27304
AGGGAAGGGAATCAGAAGGTGGAGAGACTTGAAGTTGCACTCAAGGAGGCCAAAGAAAG | A c.780
R E G N Q K V E R L E V A L K E A K E R | p.260
. . . . . . g.27364
GTTTCAGATTTTGAAAAGAAAACAAGTAATCGTTCTGAGATTGAAACCCAGACAGAGGGG c.840
V S D F E K K T S N R S E I E T Q T E G p.280
. . . . | 10 . . g.28931
AGCACAGAGAAAGAGAATGATGAAGAGAAAGGCCCGGAGACT | GTTGGAAGCGAAGTGGAA c.900
S T E K E N D E E K G P E T | V G S E V E p.300
. . . . . . g.28991
GCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTC c.960
A L N L Q V T S L F K E L Q E A H T K L p.320
. . . | 11 . . g.30358
AGCGAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAA | GTGTCAGGCCCTTGAAAGGAAA c.1020
S E A E L M K K R L Q E K | C Q A L E R K p.340
. . . . . . g.30418
AATTCTGCAATTCCATCAGAGTTGAATGAAAAGCAAGAGCTTGTTTATACTAACAAAAAG c.1080
N S A I P S E L N E K Q E L V Y T N K K p.360
. . . . . . g.30478
TTAGAGCTACAAGTGGAAAGCATGCTATCAGAAATCAAAATGGAACAGGCTAAAACAGAG c.1140
L E L Q V E S M L S E I K M E Q A K T E p.380
| 12 . . . . . g.30916
GATGAAAA | GTCCAAATTAACTGTGCTACAGATGACACACAACAAGCTTCTTCAAGAACAT c.1200
D E K | S K L T V L Q M T H N K L L Q E H p.400
. . . . | 13 . . g.32681
AATAATGCATTGAAAACAATTGAGGAACTAACAAGAAAAGAG | TCAGAAAAAGTGGACAGG c.1260
N N A L K T I E E L T R K E | S E K V D R p.420
. . . . . . g.32741
GCAGTGCTGAAGGAACTGAGTGAAAAACTGGAACTGGCAGAGAAGGCTCTGGCTTCCAAA c.1320
A V L K E L S E K L E L A E K A L A S K p.440
. . . . . . g.32801
CAGCTGCAAATGGATGAAATGAAGCAAACCATTGCCAAGCAGGAAGAGGACCTGGAAACC c.1380
Q L Q M D E M K Q T I A K Q E E D L E T p.460
. . | 14 . . . . g.37024
ATGACCATCCTCAGGGCTCAG | ATGGAAGTTTACTGTTCTGATTTTCATGCTGAAAGAGCA c.1440
M T I L R A Q | M E V Y C S D F H A E R A p.480
. . . . . . g.37084
GCGAGAGAGAAAATTCATGAGGAAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTG c.1500
A R E K I H E E K E Q L A L Q L A V L L p.500
. . . | 15 . . . g.38448
AAAGAGAATGATGCTTTCGAAGACGGAGGCAG | GCAGTCCTTGATGGAGATGCAGAGTCGT c.1560
K E N D A F E D G G R | Q S L M E M Q S R p.520
. . . . . | 16 . g.41671
CATGGGGCGAGAACAAGTGACTCTGACCAGCAGGCTTACCTTGTTCAAAGAG | GAGCTGAG c.1620
H G A R T S D S D Q Q A Y L V Q R G | A E p.540
. . . . . . g.41731
GACAGGGACTGGCGGCAACAGCGGAATATTCCGATTCATTCCTGCCCCAAGTGTGGAGAG c.1680
D R D W R Q Q R N I P I H S C P K C G E p.560
. . . . . g.41785
GTTCTGCCTGACATAGACACGTTACAGATTCACGTGATGGATTGCATCATTTAA c.1734
V L P D I D T L Q I H V M D C I I X p.577
. . . . . . g.41845
gtgttgatgtatcacctccccaaaactgttggtaaatgtcagattttttcctccaagagt c.*60
. . . . . . g.41905
tgtgcttttgtgttatttgttttcactcaaatattttgcctcattattcttgttttaaaa c.*120
. . . . . . g.41965
gaaagaaaacaggccgggcacagtggctcatgcctgtaatcccagcactttgggaggtcg c.*180
. . . . . . g.42025
aggtgggtggatcacttggggtcagggtttgagaccagcctggccaacatggcggaaccc c.*240
. . . . . . g.42085
tgtctctaccaaaattacaaaaattagccgagcatggtggcgcatgcctgtagtcgcagc c.*300
. . . . . . g.42145
tactcgcgaggttgaggcaggagaattgcttgaacccaggaagtggcagttgcagtgagc c.*360
. . . . . . g.42205
cgagacgacaccactgcactccagcctgggtgacagagggagactctgtctcgaaagaaa c.*420
. . . . . . g.42265
gaaagaaaaaaaggaaggaaggagaaggaaggaaggagaagaaaaggtacctgttctacg c.*480
. . . . . . g.42325
tagaacacctttggtggagttccatcaactcgcaaagtagaatccttacctactactctt c.*540
. . . . . . g.42385
ctgataataattttaatattttttatgtttggttgatgcgagcagctgcactgctcatgc c.*600
. . . . . . g.42445
agttagctagcatgtgacatcatgtgacaaagttcatgtaattagatggaagaaacctca c.*660
. . . . . . g.42505
ctgattaattttaagaaccttttagggatgcaggaacaatgaagtggccacagtatgtgc c.*720
. . . . . . g.42565
tgtttttgaagcatttttaaaaacgaattgtagttgtttttcttcatttaaaatggatct c.*780
. . . . . . g.42625
gttggaggttatgtgtgtatgttgtagttttattgcagccacaataattttaccaaagtt c.*840
. . . . . . g.42685
ttcacataggcagttagcctttacttaatatcaagacaagtgaaaaaatattggcatcga c.*900
. . . . . . g.42745
tgaaaccgataacattggcctcattggatttctttacccattcacagtgtaaagaagtta c.*960
. . . . . . g.42805
ccttcatgctttcattgtacctgcaggcctgtgggcttgtacagtagataattaatttct c.*1020
. . . . . . g.42865
aaaaagaacagctgcctattttcttcctaggttaggttatatcttcataatcacaagaat c.*1080
. . . . . . g.42925
tagtgatggcaaaataaaattttgcttatgaatcttttacattgtttatatatgattaat c.*1140
. . . . . . g.42985
atcatcatatatattttctgtattaagctcatttggcttcatttaagctgtatacttagt c.*1200
. . . . . . g.43045
catatatctttcattagttctatggatatgagcagatccctttactggagcccagtatgt c.*1260
. . . . . . g.43105
gctgtgtgagttagaagtcattcttgctgagaaggtgaataggtagggatttgccttgtt c.*1320
. . . . . . g.43165
ttgtaagtctacaatttgccaagagtaaataacactggaccagctgtaaaagtaaacagt c.*1380
. . . g.43195
gtgtttatgcattgagatactaaagcattt c.*1410
(downstream sequence)
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