(used for variant description)
(last modified April 10, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000280.3 in the PAX6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008679.1, covering PAX6 transcript NM_000280.3.
(upstream sequence)
. . . . . g.11683
ggtgcatttgcatgttgcggagtgattagtgggtttgaaaagggaaccgtggc c.-481
. . . . . . g.11743
tcggcctcatttcccgctctggttcaggcgcaggaggaagtgttttgctggaggatgatg c.-421
. . . . . . g.11803
acagaggtcaggcttcgctaatgggccagtgaggagcggtggaggcgaggccgggcgccg c.-361
. . . . . | 02 . g.11962
gcacacacacattaacacacttgagccatcaccaatcagcatag | gaatctgagaattgct c.-301
. . . . . . g.12022
ctcacacaccaacccagcaacatccgtggagaaaactctcaccagcaactcctttaaaac c.-241
. . . . . . g.12082
accgtcatttcaaaccattgtggtcttcaagcaacaacagcagcacaaaaaaccccaacc c.-181
. . . . . . | 03 g.16044
aaacaaaactcttgacagaagctgtgacaaccagaaaggatgcctcataaag | ggggaaga c.-121
. . . . . . g.16104
ctttaactaggggcgcgcagatgtgtgaggccttttattgtgagagtggacagacatccg c.-61
. | 04 . . . . g.16550
agatttcag | agccccatattcgagccccgtggaatcccgcggcccccagccagagccagc c.-1
. | 05 . . . . . g.20177
ATGCAGAACA | GTCACAGCGGAGTGAATCAGCTCGGTGGTGTCTTTGTCAACGGGCGGCCA c.60
M Q N S | H S G V N Q L G G V F V N G R P p.20
. . . . . . g.20237
CTGCCGGACTCCACCCGGCAGAAGATTGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGC c.120
L P D S T R Q K I V E L A H S G A R P C p.40
. . | 06 . . . . g.21224
GACATTTCCCGAATTCTGCAG | GTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTAT c.180
D I S R I L Q | V S N G C V S K I L G R Y p.60
. . . . . . g.21284
TACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACT c.240
Y E T G S I R P R A I G G S K P R V A T p.80
. . . . . . g.21344
CCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGG c.300
P E V V S K I A Q Y K R E C P S I F A W p.100
. . . . . | 07. g.22108
GAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGC | GTG c.360
E I R D R L L S E G V C T N D N I P S | V p.120
. . . . . . g.22168
TCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGAC c.420
S S I N R V L R N L A S E K Q Q M G A D p.140
. . . . . . g.22228
GGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCT c.480
G M Y D K L R M L N G Q T G S W G T R P p.160
. . . . | 08 . . g.28190
GGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAG | ATGGCTGCCAGCAACAG c.540
G W Y P G T S V P G Q P T Q D | G C Q Q Q p.180
. . . . . . g.28250
GAAGGAGGGGGAGAGAATACCAACTCCATCAGTTCCAACGGAGAAGATTCAGATGAGGCT c.600
E G G G E N T N S I S S N G E D S D E A p.200
. . . . . . g.28310
CAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACATCCTTTACCCAAGAG c.660
Q M R L Q L K R K L Q R N R T S F T Q E p.220
. . | 09 . . . . g.28885
CAAATTGAGGCCCTGGAGAAAG | AGTTTGAGAGAACCCATTATCCAGATGTGTTTGCCCGA c.720
Q I E A L E K E | F E R T H Y P D V F A R p.240
. . . . | 10 . . g.29174
GAAAGACTAGCAGCCAAAATAGATCTACCTGAAGCAAGAATACAG | GTATGGTTTTCTAAT c.780
E R L A A K I D L P E A R I Q | V W F S N p.260
. . . . . . g.29234
CGAAGGGCCAAATGGAGAAGAGAAGAAAAACTGAGGAATCAGAGAAGACAGGCCAGCAAC c.840
R R A K W R R E E K L R N Q R R Q A S N p.280
. . . . . . g.29294
ACACCTAGTCATATTCCTATCAGCAGTAGTTTCAGCACCAGTGTCTACCAACCAATTCCA c.900
T P S H I P I S S S F S T S V Y Q P I P p.300
. | 11 . . . . . g.29452
CAACCCACCACACCGG | TTTCCTCCTTCACATCTGGCTCCATGTTGGGCCGAACAGACACA c.960
Q P T T P V | S S F T S G S M L G R T D T p.320
. . . . . . g.29512
GCCCTCACAAACACCTACAGCGCTCTGCCGCCTATGCCCAGCTTCACCATGGCAAATAAC c.1020
A L T N T Y S A L P P M P S F T M A N N p.340
. | 12 . . . . . g.32149
CTGCCTATGCAA | CCCCCAGTCCCCAGCCAGACCTCCTCATACTCCTGCATGCTGCCCACC c.1080
L P M Q | P P V P S Q T S S Y S C M L P T p.360
. . . . . . g.32209
AGCCCTTCGGTGAATGGGCGGAGTTATGATACCTACACCCCCCCACATATGCAGACACAC c.1140
S P S V N G R S Y D T Y T P P H M Q T H p.380
. . . . | 13 . . g.32959
ATGAACAGTCAGCCAATGGGCACCTCGGGCACCACTTCAACAG | GACTCATTTCCCCTGGT c.1200
M N S Q P M G T S G T T S T G | L I S P G p.400
. . . . . . g.33019
GTGTCAGTTCCAGTTCAAGTTCCCGGAAGTGAACCTGATATGTCTCAATACTGGCCAAGA c.1260
V S V P V Q V P G S E P D M S Q Y W P R p.420
g.33028
TTACAGTAA c.1269
L Q X p.422
. . . . . . g.33088
aaaaaaaaaaaaaaaaaaaaaggaaaggaaatattgtgttaattcagtcagtgactatgg c.*60
. . . . . . g.33148
ggacacaacagttgagctttcaggaaagaaagaaaaatggctgttagagccgcttcagtt c.*120
. . . . . . g.33208
ctacaattgtgtcctgtattgtaccactggggaaggaatggacttgaaacaaggaccttt c.*180
. . . . . . g.33268
gtatacagaaggcacgatatcagttggaacaaatcttcattttggtatccaaacttttat c.*240
. . . . . . g.33328
tcattttggtgtattatttgtaaatgggcatttgtatgttataatgaaaaaaagaacaat c.*300
. . . . . . g.33388
gtagactggatggatgtttgatctgtgttggtcatgaagttgttttttttttttttaaaa c.*360
. . . . . . g.33448
agaaaaccatgatcaacaagctttgccacgaatttaagagttttatcaagatatatcgaa c.*420
. . . . . . g.33508
tacttctacccatctgttcatagtttatggactgatgttccaagtttgtatcattccttt c.*480
. . . . . . g.33568
gcatataattaaacctggaacaacatgcactagatttatgtcagaaatatctgttggttt c.*540
. . . . . . g.33628
tccaaaggttgttaacagatgaagtttatgtgcaaaaaagggtaagatataaattcaagg c.*600
. . . . . . g.33688
aagaaaaaaagttgatagctaaaaggtagagtgtgtcttcgatataatccaatttgtttt c.*660
. . . . . . g.33748
atgtcaaaatgtaagtatttgtcttccctagaaatcctcagaatgatttctataataaag c.*720
. . . . . . g.33808
ttaatttcatttatatttgacaagaatatagatgttttatacacattttcatgcaatcat c.*780
. . . . . . g.33868
acgtttcttttttggccagcaaaagttaattgttcttagatatagttgtattactgttca c.*840
. . . . . . g.33928
cggtccaatcattttgtgcatctagagttcattcctaatcaattaaaagtgcttgcaaga c.*900
. . . . . . g.33988
gttttaaacttaagtgttttgaagttgttcacaactacatatcaaaattaaccattgttg c.*960
. . . . . . g.34048
attgtaaaaaaccatgccaaagcctttgtatttcctttattatacagttttctttttaac c.*1020
. . . . . . g.34108
cttatagtgtggtgttacaaattttatttccatgttagatcaacattctaaaccaatggt c.*1080
. . . . . . g.34168
tactttcacacacactctgttttacatcctgatgatccttaaaaaataatccttatagat c.*1140
. . . . . . g.34228
accataaatcaaaaacgtgttagaaaaaaattccacttacagcagggtgtagatctgtgc c.*1200
. . . . . . g.34288
ccatttatacccacaacatatatacaaaatggtaacatttcccagttagccatttaattc c.*1260
. . . . . . g.34348
taaagctcaaagtctagaaataatttaaaaatgcaacaagcgattagctaggaattgttt c.*1320
. . . . . . g.34408
tttgaattaggactggcattttcaatctgggcagatttccattgtcagcctatttcaaca c.*1380
. . . . . . g.34468
atgatttcactgaagtatattcaaaagtagatttcttaaaggagactttctgaaagctgt c.*1440
. . . . . . g.34528
tgcctttttcaaataggccctctcccttttctgtctccctcccctttgcacaagaggcat c.*1500
. . . . . . g.34588
catttcccattgaaccactacagctgttcccatttgaatcttgctttctgtgcggttgtg c.*1560
. . . . . . g.34648
gatggttggagggtggaggggggatgttgcatgtcaaggaataatgagcacagacacatc c.*1620
. . . . . . g.34708
aacagacaacaacaaagcagactgtgactggccggtgggaattaaaggccttcagtcatt c.*1680
. . . . . . g.34768
ggcagcttaagccaaacattcccaaatctatgaagcagggcccattgttggtcagttgtt c.*1740
. . . . . . g.34828
atttgcaatgaagcacagttctgatcatgtttaaagtggaggcacgcagggcaggagtgc c.*1800
. . . . . . g.34888
ttgagcccaagcaaaggatggaaaaaaataagcctttgttgggtaaaaaaggactgtctg c.*1860
. . . . . . g.34948
agactttcatttgttctgtgcaacatataagtcaatacagataagtcttcctctgcaaac c.*1920
. . . . . . g.35008
ttcactaaaaagcctgggggttctggcagtctagattaaaatgcttgcacatgcagaaac c.*1980
. . . . . . g.35068
ctctggggacaaagacacacttccactgaattatactctgctttaaaaaaatccccaaaa c.*2040
. . . . . . g.35128
gcaaatgatcagaaatgtagaaattaatggaaggatttaaacatgaccttctcgttcaat c.*2100
. . . . . . g.35188
atctactgttttttagttaaggaattacttgtgaacagataattgagattcattgctccg c.*2160
. . . . . . g.35248
gcatgaaatatactaataattttattccaccagagttgctgcacatttggagacaccttc c.*2220
. . . . . . g.35308
ctaagttgcagtttttgtatgtgtgcatgtagttttgttcagtgtcagcctgcactgcac c.*2280
. . . . . . g.35368
agcagcacatttctgcaggggagtgagcacacatacgcactgttggtacaattgccggtg c.*2340
. . . . . . g.35428
cagacatttctacctcctgacattttgcagcctacattccctgagggctgtgtgctgagg c.*2400
. . . . . . g.35488
gaactgtcagagaagggctatgtgggagtgcatgccacagctgctggctggcttacttct c.*2460
. . . . . . g.35548
tccttctcgctggctgtaatttccaccacggtcaggcagccagttccggcccacggttct c.*2520
. . . . . . g.35608
gttgtgtagacagcagagactttggagacccggatgtcgcacgccaggtgcaagaggtgg c.*2580
. . . . . . g.35668
gaatgggagaaaaggagtgacgtgggagcggagggtctgtatgtgtgcacttgggcacgt c.*2640
. . . . . . g.35728
atatgtgtgctctgaaggtcaggattgccagggcaaagtagcacagtctggtatagtctg c.*2700
. . . . . . g.35788
aagaagcggctgctcagctgcagaagccctctggtccggcaggatgggaacggctgcctt c.*2760
. . . . . . g.35848
gccttctgcccacaccctagggacatgagctgtccttccaaacagagctccaggcactct c.*2820
. . . . . . g.35908
cttggggacagcatggcaggctctgtgtggtagcagtgcctgggagttggccttttactc c.*2880
. . . . . . g.35968
attgttgaaataatttttgtttattatttatttaacgatacatatatttatatatttatc c.*2940
. . . . . . g.36028
aatggggtatctgcagggatgttttgacaccatcttccaggatggagattatttgtgaag c.*3000
. . . . . . g.36088
acttcagtagaatcccaggactaaacgtctaaattttttctccaaacttgactgacttgg c.*3060
. . . . . . g.36148
gaaaaccaggtgaatagaataagagctgaatgttttaagtaataaacgttcaaactgctc c.*3120
. . . . . . g.36208
taagtaaaaaaatgcattttactgcaatgaatttctagaatatttttcccccaaagctat c.*3180
. . . . . . g.36268
gcctcctaacccttaaatggtgaacaactggtttcttgctacagctcactgccatttctt c.*3240
. . . . . . g.36328
cttactatcatcactaggtttcctaagattcactcatacagtattatttgaagattcagc c.*3300
. . . . . . g.36388
tttgttctgtgaatgtcatcttaggattgtgtctatattcttttgcttatttctttttac c.*3360
. . . . . . g.36448
tctgggcctctcatactagtaagattttaaaaagccttttcttctctgtatgtttggctc c.*3420
. . . . . . g.36508
accaaggcgaaatatatattcttctctttttcatttctcaagaataaacctcatctgctt c.*3480
. . . . . . g.36568
ttttgtttttctgtgttttggcttggtactgaatgactcaactgctcggttttaaagttc c.*3540
. . . . . . g.36628
aaagtgtaagtacttagggttagtactgcttatttcaataatgttgacggtgactatctt c.*3600
. . . . . . g.36688
tggaaagcagtaacatgctgtcttagaaatgacattaataatgggcttaaacaaatgaat c.*3660
. . . . . . g.36748
aggggggtccccccactctccttttgtatgcctatgtgtgtctgatttgttaaaagatgg c.*3720
. . . . . . g.36808
acagggaattgattgcagagtgtcgcttccttctaaagtagttttattttgtctactgtt c.*3780
. . . . . . g.36868
agtatttaaagatcctggaggtggacataaggaataaatggaagagaaaagtagatattg c.*3840
. . . . . . g.36928
tatggtggctactaaaaggaaattcaaaaagtcttagaacccgagcacctgagcaaactg c.*3900
. . . . . . g.36988
cagtagtcaaaatatttatctcatgttaaagaaaggcaaatctagtgtaagaaatgagta c.*3960
. . . . . . g.37048
ccatatagggttttgaagttcatatactagaaacacttaaaagatatcatttcagatatt c.*4020
. . . . . . g.37108
acgtttggcattgttcttaagtatttatatctttgagtcaagctgataattaaaaaaaat c.*4080
. . . . . . g.37168
ctgttaatggagtgtatatttcataatgtatcaaaatggtgtctatacctaaggtagcat c.*4140
. . . . . . g.37228
tattgaagagagatatgtttatgtagtaagttattaacataatgagtaacaaataatgtt c.*4200
. . . . . . g.37288
tccagaagaaaggaaaacacattttcagagtgcgtttttatcagaggaagacaaaaatac c.*4260
. . . . . . g.37348
acacccctctccagtagcttatttttacaaagccggcccagtgaattagaaaaacaaagc c.*4320
. . . . . . g.37408
acttggatatgatttttggaaagcccaggtacacttattattcaaaatgcacttttactg c.*4380
. . . . . . g.37468
agtttgaaaagtttcttttatatttaaaataagggttcaaatatgcatattcaattttta c.*4440
. . . . . . g.37528
tagtagttatctatttgcaaagcatatattaactagtaattggctgttaattttatagac c.*4500
. . . . . . g.37588
atggtagccagggaagtatatcaatgacctattaagtattttgacaagcaatttacatat c.*4560
. . . . . . g.37648
ctgatgacctcgtatctctttttcagcaagtcaaatgctatgtaattgttccattgtgtg c.*4620
. . . . . . g.37708
ttgtataaaatgaatcaacacggtaagaaaaaggttagagttattaaaataataaactga c.*4680
. . . . . . g.37768
ctaaaatactcatttgaatttattcagaatgttcataatgctttcaaaggacatagcaga c.*4740
. . . . . . g.37828
gcttttgtggagtatccgcacaacattatttattatctatggactaaatcaattttttga c.*4800
. . . . . . g.37888
agttgctttaaaatttaaaagcacctttgcttaatataaagccctttaattttaactgac c.*4860
. . . . . . g.37948
agatcaattctgaaactttattttgaaaagaaaatggggaagaatctgtgtctttagaat c.*4920
. . . . . . g.38008
taaaagaaatgaaaaaaataaacccgacattctaaaaaaatagaataagaaacctgattt c.*4980
. . . . . . g.38068
ttagtactaatgaaatagcgggtgacaaaatagttgtctttttgattttgatcacaaaaa c.*5040
. . . . . . g.38128
ataaactggtagtgacaggatatgatggagagatttgacatcctggcaaatcactgtcat c.*5100
. . . . g.38170
tgattcaattattctaattctgaataaaagctgtatacagta c.*5142
(downstream sequence)
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