(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_144672.3 in the OTOA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012973.1, covering OTOA transcript NM_144672.3.
(upstream sequence)
g.5001
a c.-1
. . . . . . g.5061
ATGTCTCAGGAACCTACGACATACTCCCTTTTCCTATTCCTTTTTCTGAGCCATGGAGTG c.60
M S Q E P T T Y S L F L F L F L S H G V p.20
. . . | 02 . . . g.5430
TCGAGTTATACAGTGCCAAATTCCAGGCAGG | ATTTGCATCCATTGTTGCAAAACATGGCG c.120
S S Y T V P N S R Q D | L H P L L Q N M A p.40
| 03 . . . | 04 . . | 05 g.8225
| GAAGAAATAATAGATGGAAGCTATCTGAATG | CACTGCTGGATCTCATACAGTTTCAAAG | C c.180
| E E I I D G S Y L N A | L L D L I Q F Q S | p.60
. . . . . . g.8285
TCCCACGTGTGGACGGATGACCTGTCCCACAGAGTCCTGGCCTATCTGAATTCCCGGAAT c.240
S H V W T D D L S H R V L A Y L N S R N p.80
. . | 06. . . . g.11749
GTTGCCTTCACCATCCCCAGCCTGCAG | GCAGCCGTGGAAAACCACCTGGAGCAGCGTCTG c.300
V A F T I P S L Q | A A V E N H L E Q R L p.100
. . . . . . g.11809
CACCAGCCCCAGAAGCTGCTGGAGGACCTGAGGAAGACAGACGCCCAGCAGTTCCGCACT c.360
H Q P Q K L L E D L R K T D A Q Q F R T p.120
. . . | 07 . . g.13920
GCCATGAAATGCCTCTTAGAAGACAAGAAGGACGGCTTG | GACCTGAAAGACATCATCATC c.420
A M K C L L E D K K D G L | D L K D I I I p.140
. . . . . . g.13980
GACTTAGGAGAGATTCGAGAACGAGCCTTGCAGAGCCCTGGCGTGAACCGCAGCCTGTTT c.480
D L G E I R E R A L Q S P G V N R S L F p.160
. . . . . . g.14040
CTCATCACACTGGAGAGGTGTTTCCAGATGCTGAACTCCCTGGAGTGTGTGGAGATCCTG c.540
L I T L E R C F Q M L N S L E C V E I L p.180
. . . . . . g.14100
GGCAAGGTGCTGAGGGGGTCCTCAGGGAGCTTTCTCCAGCCAGACATCACAGAGCGGCTC c.600
G K V L R G S S G S F L Q P D I T E R L p.200
. . . | 08 . . . g.18095
CCTCGGGACCTGCGCGAGGATGCCTTTAAGAACCT | ATCTGCAGTGTTCAAAGATCTCTAC c.660
P R D L R E D A F K N L | S A V F K D L Y p.220
. . . . . . g.18155
GACAAAACCTCGGCTCATTCCCAGAGAGCTCTCTATTCCTGGATGACTGGAATACTGCAG c.720
D K T S A H S Q R A L Y S W M T G I L Q p.240
. | 09 . . . . g.24302
ACATCCTCCAATGCCACTG | ATGACTCTGCTTCATGGGTCAGTGCGGAACACTTATGGGTT c.780
T S S N A T D | D S A S W V S A E H L W V p.260
. . . . . . g.24362
TTGGGCAGATACATGGTTCACCTATCGTTTGAAGAAATTACGAAAATTAGTCCTATAGAA c.840
L G R Y M V H L S F E E I T K I S P I E p.280
| 10 . . . . . . g.27434
| ATTGGGCTGTTTATCAGCTATGACAACGCCACCAAGCAGCTGGACATGGTCTATGACATC c.900
| I G L F I S Y D N A T K Q L D M V Y D I p.300
. . . . . . g.27494
ACACCTGAGCTGGCCCAGGCGTTTCTGGAGAGGATCAGCTCCTCCAACTTTAACATGAGG c.960
T P E L A Q A F L E R I S S S N F N M R p.320
. . | 11 . . . . g.31695
AATACCTCCACCATCCACAG | GCTGGGGCTGCTGGTTTGTTTCTACAATGACCTGGAATTG c.1020
N T S T I H R | L G L L V C F Y N D L E L p.340
. . . . . . g.31755
CTGGATGCCACTGTGGCTCAAGTCCTGCTTTACCAGATGATCAAGTGCAGCCACCTGAGG c.1080
L D A T V A Q V L L Y Q M I K C S H L R p.360
. . | 12 . . . . g.36410
GGCTTCCAGGCTGGCGTCCAGAAG | CTCAAAGCAGAACTCCTGGACATTGCCATGGAGAAC c.1140
G F Q A G V Q K | L K A E L L D I A M E N p.380
. . . . . . g.36470
CAGACCCTCAATGAGACCCTGGGTTCTTTGTCGGATGCAGTTGTAGGTTTGACCTACAGC c.1200
Q T L N E T L G S L S D A V V G L T Y S p.400
. . . . . . g.36530
CAACTGGAATCCCTCTCCCCCGAGGCTGTGCACGGAGCCATCTCCACCCTCAACCAGGTC c.1260
Q L E S L S P E A V H G A I S T L N Q V p.420
. . . . . . g.36590
TCAGGTTGGGCCAAGAGCCAGGTCATCATCTTGTCTGCCAAATACTTGGCCCATGAGAAG c.1320
S G W A K S Q V I I L S A K Y L A H E K p.440
| 13 . . . . . . g.41531
| GTGCTGTCTTTCTACAATGTCAGCCAGATGGGCGCACTGCTGGCTGGGGTCAGCACCCAG c.1380
| V L S F Y N V S Q M G A L L A G V S T Q p.460
. . . . . . g.41591
GCCTTCTGCAGCATGAAACGCAAGGACATCTCGCAGGTCCTGAGAAGTGCCGTCTCCCAG c.1440
A F C S M K R K D I S Q V L R S A V S Q p.480
. . . . | 14 . g.43405
TATGTATCCGACTTGTCACCTGCCCAGCAGCAAGGTATCCTCAGCAAG | ATGGTCCAAGCG c.1500
Y V S D L S P A Q Q Q G I L S K | M V Q A p.500
. . . . . . g.43465
GAAGACACTGCCCCAGGCATCGTGGAGATACAAGGGGCTTTCTTTAAGGAAGTGTCTCTC c.1560
E D T A P G I V E I Q G A F F K E V S L p.520
. . . . . . g.43525
TTTGATTTAAGGAGGCAACCTGGATTCAACTCTACAGTCCTGAAGGATAAGGAACTTGGA c.1620
F D L R R Q P G F N S T V L K D K E L G p.540
| 15 . . . . . g.45670
AGGAGCCAG | GCTCTGTTCCTGTATGAGCTTCTGTTAAAGACCACCAGAAGGCCTGAGGAG c.1680
R S Q | A L F L Y E L L L K T T R R P E E p.560
| 16 . . . . . g.45925
CTTTTGAG | TGCTGGGCAGCTGGTCAAAGGCGTGACCTGCTCACACATTGATGCCATGAGC c.1740
L L S | A G Q L V K G V T C S H I D A M S p.580
. . . . . . g.45985
ACTGACTTCTTTCTGGCCCATTTCCAGGATTTTCAGAACAACTTCGCCCTGCTTTCACCC c.1800
T D F F L A H F Q D F Q N N F A L L S P p.600
| 17 . . . . . . g.49445
TATCAG | GTTAATTGTTTGGCGTGGAAATACTGGGAAGTTTCCAGATTGTCTATGCCACCT c.1860
Y Q | V N C L A W K Y W E V S R L S M P P p.620
. . | 18 . . . . g.53049
TTCCTCTTGGCTGCACTCCC | GGCCCGCTACCTGGCTTCTGTCCCAGCCTCCCAGTGTGTG c.1920
F L L A A L P | A R Y L A S V P A S Q C V p.640
. . . . . . g.53109
CCCTTTCTGATCAGCCTGGGGAAGAGCTGGTTGGACTCCTTGGTTTTAGATTCCCACAAA c.1980
P F L I S L G K S W L D S L V L D S H K p.660
. . . | 19 . . . g.54751
AAGACTTCAGTCCTCAGGAAAGTGCAGCAGTGCCTG | GACGACTCCATTGCTGATGAGTAC c.2040
K T S V L R K V Q Q C L | D D S I A D E Y p.680
. . . . . . g.54811
ACTGTGGACATCATGGGGAACCTGCTGTGTCACTTGCCGGCAGCCATCATCGACAGGGGG c.2100
T V D I M G N L L C H L P A A I I D R G p.700
. . . . . . g.54871
ATCTCCCCCAGGGCTTGGGCGACTGCTCTACACGGCCTCAGAGACTGCCCAGACCTCAAC c.2160
I S P R A W A T A L H G L R D C P D L N p.720
. . . . | 20. . g.57336
CCTGAGCAAAAGGCTGCAGTGAGGCTCAAGCTCCTGGGACAGTATGG | ACTCCCTCAGCAC c.2220
P E Q K A A V R L K L L G Q Y G | L P Q H p.740
. . . . . . g.57396
TGGACAGCCGAGACCACGAAGGACTTGGGACCCTTTCTAGTACTTTTCTCAGGAGATGAA c.2280
W T A E T T K D L G P F L V L F S G D E p.760
. . | 21 . . . . g.62786
TTAAGCTCTATAGCCACAAAG | TTTCCTGAGATCCTTCTGCAAGCAGCTTCCAAGATGGCC c.2340
L S S I A T K | F P E I L L Q A A S K M A p.780
. . . . . . g.62846
AGGACCCTGCCCACTAAAGAATTCCTCTGGGCTGTCTTTCAGTCTGTTCGGAACAGCAGT c.2400
R T L P T K E F L W A V F Q S V R N S S p.800
. . . | 22 . . . g.67236
GATAAGATCCCCAGCTATGACCCTATGCCTG | GTTGCCATGGAGTCGTGGCCCCCTCTTCT c.2460
D K I P S Y D P M P G | C H G V V A P S S p.820
. . . . . . g.67296
GATGACATCTTCAAGTTGGCCGAAGCCAACGCCTGCTGGGCCCTGGAGGACCTGCGGTGC c.2520
D D I F K L A E A N A C W A L E D L R C p.840
. . . . . . g.67356
ATGGAGGAAGACACATTCATCAGGACCGTGGAACTGCTGGGAGCTGTCCAGGGTTTCAGC c.2580
M E E D T F I R T V E L L G A V Q G F S p.860
. . . | 23 . . g.71388
CGGCCTCAGCTGATGACCCTGAAGGAGAAAGCAATACAG | GTTTGGGACATGCCATCTTAC c.2640
R P Q L M T L K E K A I Q | V W D M P S Y p.880
. . . . . . g.71448
TGGAGAGAACACCATATCGTCTCCCTGGGGCGCATTGCTCTGGCTCTTAATGAGAGTGAG c.2700
W R E H H I V S L G R I A L A L N E S E p.900
. . . . . . g.71508
CTGGAGCAGCTGGACCTCAGCTCCATAGACACTGTGGCTTCCCTAAGCTGGCAAACAGAA c.2760
L E Q L D L S S I D T V A S L S W Q T E p.920
. | 24 . . . . . g.78466
TGGACCCCGGGACAG | GCTGAATCCATTTTGCAAGGGTACCTGGATGATTCAGGATACAGT c.2820
W T P G Q | A E S I L Q G Y L D D S G Y S p.940
. . . . . . g.78526
ATCCAGGACCTGAAGAGCTTTCATTTGGTAGGACTTGGTGCAACCCTGTGTGCTATAAAC c.2880
I Q D L K S F H L V G L G A T L C A I N p.960
. . . | 25 . . g.78877
ATCACTGAAATCCCACTTATAAAGATCTCAGAATTCAG | GGTGGTAGTGGCCAGAATTGGG c.2940
I T E I P L I K I S E F R | V V V A R I G p.980
. . . . . . g.78937
ACCCTGCTCTGCAGCACACATGTCTTAGCCGAGTTTAAGAGGAAGGCTGAAGTTGTGTTT c.3000
T L L C S T H V L A E F K R K A E V V F p.1000
. . . . . | 26 . g.79518
GGGGATCCCACTGAGTGGACCAGTTCTGTCTTGCAGGAGCTTGGGACCATTGCAG | CTGGA c.3060
G D P T E W T S S V L Q E L G T I A A | G p.1020
. . . . . . g.79578
TTAACTAAGGCAGAGCTCCGGATGCTTGACAAGGATTTGATGCCATATTTCCAGCCATCA c.3120
L T K A E L R M L D K D L M P Y F Q P S p.1040
. . . | 27 . . . g.83595
GCAATAAAATGCCTTCCTGATGAGATATTCAAA | GAGCTGTCCGCGGAGCAGATCGCCTCC c.3180
A I K C L P D E I F K | E L S A E Q I A S p.1060
. . . . . . g.83655
CTGGGTCCGGAGAACGCCGCGGCGGTGACCCACGCCCAGCGCCGGCGGCTCAGTCCACTG c.3240
L G P E N A A A V T H A Q R R R L S P L p.1080
. . . . . . g.83715
CAGCTGCAGAGCCTCCAGCAGGCGCTAGATGGCGCCAAGACTCACTCCTGGCAGGACGCG c.3300
Q L Q S L Q Q A L D G A K T H S W Q D A p.1100
. . . . | 28 . g.86967
CCCGCTAGCGCCGGTCCCACTAGAACCTCATCCTCGCGTTCTCCCGCAG | GAGCTCTCCAG c.3360
P A S A G P T R T S S S R S P A G | A L Q p.1120
. . . . . . g.87027
TCGTGGGGTCTTTGGCTTGGTTGTCCCCTGCTGGTTCTAATGGCCAAGCTCCTGTGGTGA c.3420
S W G L W L G C P L L V L M A K L L W X p.1139
. . . . . . g.87087
gtggcctgagcgcatcgtcctgtgttgccccaagcagctggccaacatgtgtagagacag c.*60
. . . . . . g.87147
gatgctccagatggtgggacacccttccctggatccagaccctcatctagggcagggaaa c.*120
. . . . . . g.87207
ccctggggccttgatggtgaaaatgcaccccaaatgaaaaataattattaaaaatgatct c.*180
g.87216
tgcaaatta c.*189
(downstream sequence)
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