(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015560.2 in the OPA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011605.1, covering OPA1 transcript NM_015560.2.
(upstream sequence)
. . . . . g.5054
gtgctgcccgcctagaaagggtgaagtggttgtttccgtgacggactgagtacg c.-181
. . . . . . g.5114
ggtgcctgtcaggctcttgcggaagtccatgcgccattgggagggcctcggccgcggctc c.-121
. . . . . . g.5174
tgtgcccttgctgctgagggccacttcctgggtcattcctggaccgggagccgggctggg c.-61
. . . . . . g.5234
gctcacacgggggctcccgcgtggccgtctcggcgcctgcgtgacctccccgccggcggg c.-1
. . . | 02 . . . g.26607
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTG | TGAGGTCTGCCAGTCTTTAGTGAAACAC c.60
M W R L R R A A V A C | E V C Q S L V K H p.20
. . . . . . g.26667
AGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATT c.120
S S G I K G S L P L Q K L H L V S R S I p.40
. . . . . . g.26727
TATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG c.180
Y H S H H P T L K L Q R P Q L R T S F Q p.60
. . . . . . g.26787
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATAT c.240
Q F S S L T N L P L R K L K F S P I K Y p.80
. . . . . . g.26847
GGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTT c.300
G Y Q P R R N F W P A R L A T R L L K L p.100
. . . . . | 03 . g.27539
CGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAG | ACTTTTGAT c.360
R Y L I L G S A V G G G Y T A K K | T F D p.120
. . . . . . g.27599
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTG c.420
Q W K D M I P D L S E Y K W I V P D I V p.140
. . | 04 . . . g.29066
TGGGAAATTGATGAGTATATCGATTTTG | AGAAAATTAGAAAAGCCCTTCCTAGTTCAGAA c.480
W E I D E Y I D F E | K I R K A L P S S E p.160
. . . . . . g.29126
GACCTTGTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAG c.540
D L V K L A P D F D K I V E S L S L L K p.180
. | 05 . . . . . g.30769
GACTTTTTTACCTCAG | GTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCT c.600
D F F T S G | S P E E T A F R A T D R G S p.200
. . | 06 . . . . g.43504
GAAAGTGACAAGCATTTTAGAAAG | GTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAA c.660
E S D K H F R K | V S D K E K I D Q L Q E p.220
. | 07 . . . . g.47316
GAACTTCTGCACACTCAG | TTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAAC c.720
E L L H T Q | L K Y Q R I L E R L E K E N p.240
. . . . . . g.47376
AAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTT c.780
K E L R K L V L Q K D D K G I H H R K L p.260
| 08 . . . . . . g.49108
AAG | AAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCC c.840
K | K S L I D M Y S E V L D V L S D Y D A p.280
. . . | 09 . . . g.49838
AGTTATAATACGCAAGATCATCTGCCACGG | GTTGTTGTGGTTGGAGATCAGAGTGCTGGA c.900
S Y N T Q D H L P R | V V V V G D Q S A G p.300
. . . . . . g.49898
AAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAG c.960
K T S V L E M I A Q A R I F P R G S G E p.320
. . | 10 . . . . g.54657
ATGATGACACGTTCTCCAGTTAAG | GTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTA c.1020
M M T R S P V K | V T L S E G P H H V A L p.340
. . . . | 11 . . g.54846
TTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGAT | CTTGCAGCATTAAGA c.1080
F K D S S R E F D L T K E E D | L A A L R p.360
. . . . . . g.54906
CATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAG c.1140
H E I E L R M R K N V K E G C T V S P E p.380
| 12 . . . . . . g.55289
| ACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCA c.1200
| T I S L N V K G P G L Q R M V L V D L P p.400
. | 13 . . . . . g.55432
GGTGTGATTAAT | ACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGT c.1260
G V I N | T V T S G M A P D T K E T I F S p.420
. . . . . | 14 . g.55839
ATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAG | ATGGATCT c.1320
I S K A Y M Q N P N A I I L C I Q D | G S p.440
. . . . . . g.55899
GTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGG c.1380
V D A E R S I V T D L V S Q M D P H G R p.460
. . . . . . g.55959
AGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGC c.1440
R T I F V L T K V D L A E K N V A S P S p.480
| 15 . . . . . . g.57466
AGG | ATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCT c.1500
R | I Q Q I I E G K L F P M K A L G Y F A p.500
. | 16 . . . . . g.57628
GTTGTAACAGGAAAAG | GGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAA c.1560
V V T G K G | N S S E S I E A I R E Y E E p.520
. . | 17 . . . g.58952
GAGTTTTTTCAGAATTCAAAGCTCCTAAA | GACAAGCATGCTAAAGGCACACCAAGTGACT c.1620
E F F Q N S K L L K | T S M L K A H Q V T p.540
. . . . . . g.59012
ACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTT c.1680
T R N L S L A V S D C F W K M V R E S V p.560
. . | 18 . . . . g.59961
GAACAACAGGCTGATAGTTTCAAAG | CAACACGTTTTAACCTTGAAACTGAATGGAAGAAT c.1740
E Q Q A D S F K A | T R F N L E T E W K N p.580
. . . | 19 . . . g.60681
AACTATCCTCGCCTGCGGGAACTTGACCGG | AATGAACTATTTGAAAAAGCTAAAAATGAA c.1800
N Y P R L R E L D R | N E L F E K A K N E p.600
. . . . | 20. . g.66731
ATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTG | GGAGGAAATCCTT c.1860
I L D E V I S L S Q V T P K H W | E E I L p.620
. . . . . . g.66791
CAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCT c.1920
Q Q S L W E R V S T H V I E N I Y L P A p.640
. . . . . . g.66851
GCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGG c.1980
A Q T M N S G T F N T T V D I K L K Q W p.660
. . . | 21 . . . g.68963
ACTGATAAACAACTTCCTAATAAAGCAGTAGAG | GTTGCTTGGGAGACCCTACAAGAAGAA c.2040
T D K Q L P N K A V E | V A W E T L Q E E p.680
. . . . . . g.69023
TTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTT c.2100
F S R F M T E P K G K E H D D I F D K L p.700
. . . . . . g.69083
AAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGAC c.2160
K E A V K E E S I K R H K W N D F A E D p.720
| 22 . . . . . . g.70797
AGCTTG | AGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAA c.2220
S L | R V I Q H N A L E D R S I S D K Q Q p.740
. . . . . | 23 . g.71343
TGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATA | CTGAA c.2280
W D A A I Y F M E E A L Q A R L K D T | E p.760
. . . . . . g.71403
AATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAAT c.2340
N A I E N M V G P D W K K R W L Y W K N p.780
. | 24 . . . . . g.74723
CGGACCCAAGAACAG | TGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAA c.2400
R T Q E Q | C V H N E T K N E L E K M L K p.800
. . . . . . g.74783
TGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAAC c.2460
C N E E H P A Y L A S D E I T T V R K N p.820
. . . | 25 . . . g.76760
CTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTG | ATTAAGGATACTTGGCATCAAGTT c.2520
L E S R G V E V D P S L | I K D T W H Q V p.840
. . . . . . g.76820
TATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTT c.2580
Y R R H F L K T A L N H C N L C R R G F p.860
. . . | 26 . . . g.78179
TATTACTACCAAAGGCATTTTGTAGATTCTGAG | TTGGAATGCAATGATGTGGTCTTGTTT c.2640
Y Y Y Q R H F V D S E | L E C N D V V L F p.880
. . . . . . g.78239
TGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAAT c.2700
W R I Q R M L A I T A N T L R Q Q L T N p.900
| 27. . . . . . g.79079
ACTGAAG | TTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGAT c.2760
T E V | R R L E K N V K E V L E D F A E D p.920
. . . . . | 28 g.103921
GGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCA | AG c.2820
G E K K I K L L T G K R V Q L A E D L K | p.940
. . . . . . g.103981
AAAGTTAGAGAAATTCAAGAAAAACTTGATGCTTTCATTGAAGCTCTTCATCAGGAGAAA c.2880
K V R E I Q E K L D A F I E A L H Q E K p.960
g.103984
TAA | c.2884
X p.960
| 29 . . . . . . g.106517
attaa | aatcgtactcataatcagctctgcatacatctgaagaacaaaaacatcaacgtct c.*60
. . . . . . g.106577
tttgtccagcctctttttcttctgctgttccacctttctaaacatacaataaagtcatgg c.*120
. . . . . . g.106637
gataaaaataatcgatgtatgttacgggcgctttaaccatcagctgcctctcgaatggaa c.*180
. . . . . . g.106697
gaacagtggtaatggattaacatcctattttgttgtactaaagtgacaaatcggaataat c.*240
. . . . . . g.106757
ataattggtatggccattaggttcagtccttgaagataagaaacttgttctctgtttgtt c.*300
. . . . . . g.106817
gtcttatttgtggtggcactcgtttaatggattaactgaggttgctcaatgttcagtttc c.*360
. . . . . . g.106877
ttttccagaaatacaatgctaggtgttttgaaataaaacttatatagcaattgtttaaag c.*420
. . . . . . g.106937
ttatcaattgtatataaaatcacagtagcctgctaaatcattgtatgtgtctgtagtatt c.*480
. . . . . . g.106997
ctattcccagaaactatttgaccatgataattcagtttatattcaccacatgaaagaaaa c.*540
. . . . . . g.107057
atgggtaacagaagaacccttaaaacaggttaatttggattgtaacgttcagtgaaagaa c.*600
. . . . . . g.107117
atttcaacccttcatagccagcgaagaaatttgccttggaagccaagtcagtaccagctt c.*660
. . . . . . g.107177
acctatttgattcagttgctgttttctcactctctatatccatttgaaattgatttattt c.*720
. . . . . . g.107237
tagatgttgtatacttacgttaggctttctgttaatagtggtttttctcctgttgacaga c.*780
. . . . . . g.107297
gccaccggattatgacacaggatgaggaagattaaggataatcaattgactaatttcatt c.*840
. . . . . . g.107357
tagaatattatcaaacatttcaactaggtatcagaaaaaggctttctttcataagactat c.*900
. . . . . . g.107417
tttaaatagaaattatttcaacaattaaagtaatgttgaccatccccctctcagctgaat c.*960
. . . . . . g.107477
aaagaaaaatttagttcaatttattgcaatttaattacaatactaccttcacaacatttt c.*1020
. . . . . . g.107537
catgtgttttaaataaatattttttaattggctaaaggacattcaagcaaagaaatgctt c.*1080
. . . . . . g.107597
tctttacttaaaatgtctatctcatttgctgccttttcactaagcctttactttgttaat c.*1140
. . . . . . g.107657
aaaagtgtccattgtgtgatgtttttgattttacagtttgctaaatcttattttcttgga c.*1200
. . . . . . g.107717
gttgctttttggtaacagccccattgctactccccattttattgttttacatcaatgcat c.*1260
. . . . . . g.107777
gcttcgttgtgatccctcaagatgtaacacttggtatgctcggttgaggatatgaaaaaa c.*1320
. . . . . . g.107837
tacttccgaaaccaggaattcaatgtatgtttgttttatactgtttgataagaaaagtag c.*1380
. . . . . . g.107897
gtccagccttaagcagcacagatgcgctggtagatgcatagtcaggaactttttttattt c.*1440
. . . . . . g.107957
cttttaggtctagggacaggagtgaatagaaagggaggagagctctattatgttctatac c.*1500
. . . . . . g.108017
acagattaggagatgaccttactgggtacacccctctaaccagtgcttacaggttaatgc c.*1560
. . . . . . g.108077
atgttaatgaatatttttgcagttgtaaagcataacaattacaactacacatctatttct c.*1620
. . . . . . g.108137
aaagaataaaacaggaccatatttatttacttctgtcaactatagaaagaaagaccttca c.*1680
. . . . . . g.108197
gctgtatttccacagatttctcccaaggaaaaggctaatattagtcactactgttatcac c.*1740
. . . . . . g.108257
atccctttgtataagttttaaaaagagatggagggagatcttcatttctttgaggagatc c.*1800
. . . . . . g.108317
agtattgtaacgtatgtgaatagatgataacaattaatattactaaaagtcccacatgag c.*1860
. . . . . . g.108377
agtcctgacgccctctccatgccccacagtaatgtggcttctttcatgggtttttttttc c.*1920
. . . . . . g.108437
ttctttttagctgatctcatcctaagcatgctttatttttccttgaaagctaggtattta c.*1980
. . . . . . g.108497
tcaactgcagatgttattgaaagaaaataaaattcagtctcaagagtaaaccctgtgtct c.*2040
. . . . . . g.108557
tgtgtctgtagttcaaaagtcagaaatgattctaatttaaacaaaaagatactaaatata c.*2100
. . . . . . g.108617
cagaagttaaattcgaactagccacagaatcatttgtttttatgtcagaatttgcaaaga c.*2160
. . . . . . g.108677
gtggagtggacaaagctctgtatggaagactgaacaactgtaaatagatgatatccaaac c.*2220
. . . . . . g.108737
ttaatttggctaggacttcaattttaaaaatcagtgtacctaggcagtgcacagcacgaa c.*2280
. . . . . . g.108797
ataagtggcccttgcagcttccccgtttaacccactgtgctatagttgcgggtggaacag c.*2340
. . . . . . g.108857
tcaacctttctagtagtttatgatattgccctctttgtattcccattttctacagttttt c.*2400
. . . . . . g.108917
tccgcagacttctttctgcaaattattcagcctccaaatgcaaatgaatgatataaaaat c.*2460
. . . . . . g.108977
aagtagggaacatggcagagagtggtgcttcccagcctcacaatgtgggaatttgacata c.*2520
. . . . . . g.109037
ggatgagagtcagagtataggtttaaaagataaaatctttagttaataattttgtattta c.*2580
. . . . . . g.109097
tttattctagatgtatgtatctgaggaaagaaatctggtatttttgctttccaataaagg c.*2640
. . . . . . g.109157
ggatcaaagtaatggtttttctctcagttctctaagctggtctatgttatagctctagca c.*2700
. . . . . . g.109217
gtatggaaatgtgctttaaaatatgcttaccttttgaatgatcatggctatatgttgttg c.*2760
. . . . . . g.109277
agatatttgaaacttaccttgttttcacttgtgcactgtgaatgaactttgtattatttt c.*2820
. . . . . . g.109337
tttaaaaccttcacattacgtgtagatattattgcaacttatattttgcctgagcttgat c.*2880
. . . . . . g.109397
caaaggtcatttgtgtagatgagtaattaaaaaatatttaaatcacattataattctatt c.*2940
. . . . . . g.109457
attggagagcatcttttaaatttttttctgttttaacgagggaaagagaaacctgtatac c.*3000
. . . . . . g.109517
ctagggtcattatttgaccccatagtataaccagattcatggtctaacaagctctcagtg c.*3060
. . . . . . g.109577
tggcttttctctgaatgcttgaatttcacatgccttgcatttcacagttgtactccatgg c.*3120
. . . . . . g.109637
tcaaccggtgctttttttcacatcgtggtacttgtcaaaacattttgttattttccttgg c.*3180
. . . g.109668
taaaatatataaaaaaggttttctaatttca c.*3211
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center