(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_130837.2 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_130837.2.
(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.29684
GACTTTTTTACCTCAG | GTCACAAATTGGTTAGTGAAGTCATAGGAGCTTCTGACCTACTT c.600
D F F T S G | H K L V S E V I G A S D L L p.200
. | 06 . . . . . g.30775
CTCTTGTTAG | GTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGT c.660
L L L G | S P E E T A F R A T D R G S E S p.220
. | 07 . . . . g.37990
GACAAGCATTTTAGAAAG | GGTCTGCTTGGTGAGCTCATTCTCTTACAACAACAAATTCAA c.720
D K H F R K | G L L G E L I L L Q Q Q I Q p.240
. . . . . . g.38050
GAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCCCAACAG c.780
E H E E E A R R A A G Q Y S T S Y A Q Q p.260
| 08 . . . . . g.43519
AAGCGCAAG | GTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACT c.840
K R K | V S D K E K I D Q L Q E E L L H T p.280
| 09 . . . . . . g.47331
CAG | TTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAA c.900
Q | L K Y Q R I L E R L E K E N K E L R K p.300
. . . . | 10 . g.49063
TTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAG | AAATCTTTGATT c.960
L V L Q K D D K G I H H R K L K | K S L I p.320
. . . . . . g.49123
GACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAA c.1020
D M Y S E V L D V L S D Y D A S Y N T Q p.340
. | 11 . . . . . g.49853
GATCATCTGCCACGG | GTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTG c.1080
D H L P R | V V V V G D Q S A G K T S V L p.360
. . . . . . g.49913
GAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCT c.1140
E M I A Q A R I F P R G S G E M M T R S p.380
| 12 . . . . . g.54672
CCAGTTAAG | GTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCT c.1200
P V K | V T L S E G P H H V A L F K D S S p.400
. . . | 13 . . . g.54861
CGGGAGTTTGATCTTACCAAAGAAGAAGAT | CTTGCAGCATTAAGACATGAAATAGAACTT c.1260
R E F D L T K E E D | L A A L R H E I E L p.420
. . . . | 14 . . g.55244
CGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAG | ACCATATCCTTAAAT c.1320
R M R K N V K E G C T V S P E | T I S L N p.440
. . . . . | 15. g.55387
GTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAAT | ACT c.1380
V K G P G L Q R M V L V D L P G V I N | T p.460
. . . . . . g.55447
GTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTAC c.1440
V T S G M A P D T K E T I F S I S K A Y p.480
. . . | 16. . . g.55854
ATGCAGAATCCTAATGCCATCATACTGTGTATTCAAG | ATGGATCTGTGGATGCTGAACGC c.1500
M Q N P N A I I L C I Q D | G S V D A E R p.500
. . . . . . g.55914
AGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTT c.1560
S I V T D L V S Q M D P H G R R T I F V p.520
. . . . | 17 . g.57421
TTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGG | ATTCAGCAGATA c.1620
L T K V D L A E K N V A S P S R | I Q Q I p.540
. . . . . . g.57481
ATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAA c.1680
I E G K L F P M K A L G Y F A V V T G K p.560
| 18 . . . . . . g.57643
G | GGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAAT c.1740
G | N S S E S I E A I R E Y E E E F F Q N p.580
. | 19 . . . . . g.58967
TCAAAGCTCCTAAA | GACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGC c.1800
S K L L K | T S M L K A H Q V T T R N L S p.600
. . . . . . g.59027
CTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGAT c.1860
L A V S D C F W K M V R E S V E Q Q A D p.620
. | 20 . . . . . g.59976
AGTTTCAAAG | CAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTG c.1920
S F K A | T R F N L E T E W K N N Y P R L p.640
. | 21 . . . . . g.60696
CGGGAACTTGACCGG | AATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTT c.1980
R E L D R | N E L F E K A K N E I L D E V p.660
. . . | 22 . . . g.66746
ATCAGTCTGAGCCAGGTTACACCAAAACATTG | GGAGGAAATCCTTCAACAATCTTTGTGG c.2040
I S L S Q V T P K H W | E E I L Q Q S L W p.680
. . . . . . g.66806
GAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAAT c.2100
E R V S T H V I E N I Y L P A A Q T M N p.700
. . . . . . g.66866
TCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTT c.2160
S G T F N T T V D I K L K Q W T D K Q L p.720
. | 23 . . . . g.68978
CCTAATAAAGCAGTAGAG | GTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATG c.2220
P N K A V E | V A W E T L Q E E F S R F M p.740
. . . . . . g.69038
ACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAG c.2280
T E P K G K E H D D I F D K L K E A V K p.760
. . . . . | 24 . g.70752
GAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTG | AGGGTTATT c.2340
E E S I K R H K W N D F A E D S L | R V I p.780
. . . . . . g.70812
CAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATT c.2400
Q H N A L E D R S I S D K Q Q W D A A I p.800
. . . . | 25 . . g.71358
TATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATA | CTGAAAATGCAATTGAAAAC c.2460
Y F M E E A L Q A R L K D T | E N A I E N p.820
. . . . . . g.71418
ATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAG c.2520
M V G P D W K K R W L Y W K N R T Q E Q p.840
| 26 . . . . . . g.74738
| TGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCAC c.2580
| C V H N E T K N E L E K M L K C N E E H p.860
. . . . . . g.74798
CCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGA c.2640
P A Y L A S D E I T T V R K N L E S R G p.880
. . | 27 . . . . g.76775
GTAGAAGTAGATCCAAGCTTG | ATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTT c.2700
V E V D P S L | I K D T W H Q V Y R R H F p.900
. . . . . . g.76835
TTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGG c.2760
L K T A L N H C N L C R R G F Y Y Y Q R p.920
. | 28 . . . . g.78194
CATTTTGTAGATTCTGAG | TTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGC c.2820
H F V D S E | L E C N D V V L F W R I Q R p.940
. . . . . | 29 . g.79034
ATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAG | TTAGGCGA c.2880
M L A I T A N T L R Q Q L T N T E V | R R p.960
. . . . . . g.79094
TTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATT c.2940
L E K N V K E V L E D F A E D G E K K I p.980
. . . . | 30 . . g.103936
AAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCA | AGAAAGTTAGAGAAATT c.3000
K L L T G K R V Q L A E D L K | K V R E I p.1000
. . . . g.103984
CAAGAAAAACTTGATGCTTTCATTGAAGCTCTTCATCAGGAGAAATAA | c.3049
Q E K L D A F I E A L H Q E K X p.1015
| 31 . . . . . . 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)
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