(used for variant description)
(last modified September 4, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000314.4 in the PTEN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007466.2, covering PTEN transcript NM_000314.4.
(upstream sequence)
. g.5011
cctcccctcgc c.-1021
. . . . . . g.5071
ccggcgcggtcccgtccgcctctcgctcgcctcccgcctcccctcggtcttccgaggcgc c.-961
. . . . . . g.5131
ccgggctcccggcgcggcggcggagggggcgggcaggccggcgggcggtgatgtggcggg c.-901
. . . . . . g.5191
actctttatgcgctgcggcaggatacgcgctcggcgctgggacgcgactgcgctcagttc c.-841
. . . . . . g.5251
tctcctctcggaagctgcagccatgatggaagtttgagagttgagccgctgtgaggcgag c.-781
. . . . . . g.5311
gccgggctcaggcgagggagatgagagacggcggcggccgcggcccggagcccctctcag c.-721
. . . . . . g.5371
cgcctgtgagcagccgcgggggcagcgccctcggggagccggccggcctgcggcggcggc c.-661
. . . . . . g.5431
agcggcggcgtttctcgcctcctcttcgtcttttctaaccgtgcagcctcttcctcggct c.-601
. . . . . . g.5491
tctcctgaaagggaaggtggaagccgtgggctcgggcgggagccggctgaggcgcggcgg c.-541
. . . . . . g.5551
cggcggcggcacctcccgctcctggagcgggggggagaagcggcggcggcggcggccgcg c.-481
. . . . . . g.5611
gcggctgcagctccagggagggggtctgagtcgcctgtcaccatttccagggctgggaac c.-421
. . . . . . g.5671
gccggagagttggtctctccccttctactgcctccaacacggcggcggcggcggcggcac c.-361
. . . . . . g.5731
atccagggacccgggccggttttaaacctcccgtccgccgccgccgcaccccccgtggcc c.-301
. . . . . . g.5791
cgggctccggaggccgccggcggaggcagccgttcggaggattattcgtcttctccccat c.-241
. . . . . . g.5851
tccgctgccgccgctgccaggcctctggctgctgaggagaagcaggcccagtcgctgcaa c.-181
. . . . . . g.5911
ccatccagcagccgccgcagcagccattacccggctgcggtccagagccaagcggcggca c.-121
. . . . . . g.5971
gagcgaggggcatcagctaccgccaagtccagagccatttccatcctgcagaagaagccc c.-61
. . . . . . g.6031
cgccaccagcagcttctgccatctctctcctcctttttcttcagccacaggctcccagac c.-1
. . . . . . g.6091
ATGACAGCCATCATCAAAGAGATCGTTAGCAGAAACAAAAGGAGATATCAAGAGGATGGA c.60
M T A I I K E I V S R N K R R Y Q E D G p.20
. | 02 . . . . g.35627
TTCGACTTAGACTTGACCT | ATATTTATCCAAACATTATTGCTATGGGATTTCCTGCAGAA c.120
F D L D L T Y | I Y P N I I A M G F P A E p.40
. . . . | 03 . . g.67090
AGACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAAG | GTTTTTGGATTCAAAG c.180
R L E G V Y R N N I D D V V R | F L D S K p.60
. . | 04 . . . g.72638
CATAAAAACCATTACAAGATATACAATCT | TTGTGCTGAAAGACATTATGACACCGCCAAA c.240
H K N H Y K I Y N L | C A E R H Y D T A K p.80
. | 05 . . . . . g.74621
TTTAATTGCAGAG | TTGCACAATATCCTTTTGAAGACCATAACCCACCACAGCTAGAACTT c.300
F N C R V | A Q Y P F E D H N P P Q L E L p.100
. . . . . . g.74681
ATCAAACCCTTTTGTGAAGATCTTGACCAATGGCTAAGTGAAGATGACAATCATGTTGCA c.360
I K P F C E D L D Q W L S E D D N H V A p.120
. . . . . . g.74741
GCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCATATTTATTA c.420
A I H C K A G K G R T G V M I C A Y L L p.140
. . . . . . g.74801
CATCGGGGCAAATTTTTAAAGGCACAAGAGGCCCTAGATTTCTATGGGGAAGTAAGGACC c.480
H R G K F L K A Q E A L D F Y G E V R T p.160
. | 06 . . . . . g.93727
AGAGACAAAAAG | GGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTAC c.540
R D K K | G V T I P S Q R R Y V Y Y Y S Y p.180
. . . . . . g.93787
CTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTT c.600
L L K N H L D Y R P V A L L F H K M M F p.200
. . . | 07 . . . g.99440
GAAACTATTCCAATGTTCAGTGGCGGAACTTGCA | ATCCTCAGTTTGTGGTCTGCCAGCTA c.660
E T I P M F S G G T C N | P Q F V V C Q L p.220
. . . . . . g.99500
AAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTAC c.720
K V K I Y S S N S G P T R R E D K F M Y p.240
. . . . . . g.99560
TTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAA c.780
F E F P Q P L P V C G D I K V E F F H K p.260
. . | 08 . . . . g.102494
CAGAACAAGATGCTAAAAAAG | GACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATA c.840
Q N K M L K K | D K M F H F W V N T F F I p.280
. . . . . . g.102554
CCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATC c.900
P G P E E T S E K V E N G S L C D Q E I p.300
. . . . . . g.102614
GATAGCATTTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATCTAGTACTTACTTTA c.960
D S I C S I E R A D N D K E Y L V L T L p.320
. . . . . . g.102674
ACAAAAAATGATCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAAT c.1020
T K N D L D K A N K D K A N R Y F S P N p.340
| 09 . . . . . . g.106902
TTTAAG | GTGAAGCTGTACTTCACAAAAACAGTAGAGGAGCCGTCAAATCCAGAGGCTAGC c.1080
F K | V K L Y F T K T V E E P S N P E A S p.360
. . . . . . g.106962
AGTTCAACTTCTGTAACACCAGATGTTAGTGACAATGAACCTGATCATTATAGATATTCT c.1140
S S T S V T P D V S D N E P D H Y R Y S p.380
. . . . . . g.107022
GACACCACTGACTCTGATCCAGAGAATGAACCTTTTGATGAAGATCAGCATACACAAATT c.1200
D T T D S D P E N E P F D E D Q H T Q I p.400
. g.107034
ACAAAAGTCTGA c.1212
T K V X p.403
. . . . . . g.107094
atttttttttatcaagagggataaaacaccatgaaaataaacttgaataaactgaaaatg c.*60
. . . . . . g.107154
gacctttttttttttaatggcaataggacattgtgtcagattaccagttataggaacaat c.*120
. . . . . . g.107214
tctcttttcctgaccaatcttgttttaccctatacatccacagggttttgacacttgttg c.*180
. . . . . . g.107274
tccagttgaaaaaaggttgtgtagctgtgtcatgtatatacctttttgtgtcaaaaggac c.*240
. . . . . . g.107334
atttaaaattcaattaggattaataaagatggcactttcccgttttattccagttttata c.*300
. . . . . . g.107394
aaaagtggagacagactgatgtgtatacgtaggaattttttccttttgtgttctgtcacc c.*360
. . . . . . g.107454
aactgaagtggctaaagagctttgtgatatactggttcacatcctacccctttgcacttg c.*420
. . . . . . g.107514
tggcaacagataagtttgcagttggctaagagaggtttccgaagggttttgctacattct c.*480
. . . . . . g.107574
aatgcatgtattcgggttaggggaatggagggaatgctcagaaaggaaataattttatgc c.*540
. . . . . . g.107634
tggactctggaccatataccatctccagctatttacacacacctttctttagcatgctac c.*600
. . . . . . g.107694
agttattaatctggacattcgaggaattggccgctgtcactgcttgttgtttgcgcattt c.*660
. . . . . . g.107754
ttttttaaagcatattggtgctagaaaaggcagctaaaggaagtgaatctgtattggggt c.*720
. . . . . . g.107814
acaggaatgaaccttctgcaacatcttaagatccacaaatgaagggatataaaaataatg c.*780
. . . . . . g.107874
tcataggtaagaaacacagcaacaatgacttaaccatataaatgtggaggctatcaacaa c.*840
. . . . . . g.107934
agaatgggcttgaaacattataaaaattgacaatgatttattaaatatgttttctcaatt c.*900
. . . . . . g.107994
gtaacgacttctccatctcctgtgtaatcaaggccagtgctaaaattcagatgctgttag c.*960
. . . . . . g.108054
tacctacatcagtcaacaacttacacttattttactagttttcaatcataatacctgctg c.*1020
. . . . . . g.108114
tggatgcttcatgtgctgcctgcaagcttcttttttctcattaaatataaaatattttgt c.*1080
. . . . . . g.108174
aatgctgcacagaaattttcaatttgagattctacagtaagcgttttttttctttgaaga c.*1140
. . . . . . g.108234
tttatgatgcacttattcaatagctgtcagccgttccacccttttgaccttacacattct c.*1200
. . . . . . g.108294
attacaatgaattttgcagttttgcacattttttaaatgtcattaactgttagggaattt c.*1260
. . . . . . g.108354
tacttgaatactgaatacatataatgtttatattaaaaaggacatttgtgttaaaaagga c.*1320
. . . . . . g.108414
aattagagttgcagtaaactttcaatgctgcacacaaaaaaaagacatttgatttttcag c.*1380
. . . . . . g.108474
tagaaattgtcctacatgtgctttattgatttgctattgaaagaatagggtttttttttt c.*1440
. . . . . . g.108534
tttttttttttttttttttaaatgtgcagtgttgaatcatttcttcatagtgctcccccg c.*1500
. . . . . . g.108594
agttgggactagggcttcaatttcacttcttaaaaaaaatcatcatatatttgatatgcc c.*1560
. . . . . . g.108654
cagactgcatacgattttaagcggagtacaactactattgtaaagctaatgtgaagatat c.*1620
. . . . . . g.108714
tattaaaaaggtttttttttccagaaatttggtgtcttcaaattataccttcaccttgac c.*1680
. . . . . . g.108774
atttgaatatccagccattttgtttcttaatggtataaaattccattttcaataacttat c.*1740
. . . . . . g.108834
tggtgctgaaattgttcactagctgtggtctgacctagttaatttacaaatacagattga c.*1800
. . . . . . g.108894
ataggacctactagagcagcatttatagagtttgatggcaaatagattaggcagaacttc c.*1860
. . . . . . g.108954
atctaaaatattcttagtaaataatgttgacacgttttccataccttgtcagtttcattc c.*1920
. . . . . . g.109014
aacaatttttaaatttttaacaaagctcttaggatttacacatttatatttaaacattga c.*1980
. . . . . . g.109074
tatatagagtattgattgattgctcataagttaaattggtaaagttagagacaactattc c.*2040
. . . . . . g.109134
taacacctcaccattgaaatttatatgccaccttgtctttcataaaagctgaaaattgtt c.*2100
. . . . . . g.109194
acctaaaatgaaaatcaacttcatgttttgaagatagttataaatattgttctttgttac c.*2160
. . . . . . g.109254
aatttcgggcaccgcatattaaaacgtaactttattgttccaatatgtaacatggagggc c.*2220
. . . . . . g.109314
caggtcataaataatgacattataatgggcttttgcactgttattatttttcctttggaa c.*2280
. . . . . . g.109374
tgtgaaggtctgaatgagggttttgattttgaatgtttcaatgtttttgagaagccttgc c.*2340
. . . . . . g.109434
ttacattttatggtgtagtcattggaaatggaaaaatggcattatatatattatatatat c.*2400
. . . . . . g.109494
aaatatatattatacatactctccttactttatttcagttaccatccccatagaatttga c.*2460
. . . . . . g.109554
caagaattgctatgactgaaaggttttcgagtcctaattaaaactttatttatggcagta c.*2520
. . . . . . g.109614
ttcataattagcctgaaatgcattctgtaggtaatctctgagtttctggaatattttctt c.*2580
. . . . . . g.109674
agactttttggatgtgcagcagcttacatgtctgaagttacttgaaggcatcacttttaa c.*2640
. . . . . . g.109734
gaaagcttacagttgggccctgtaccatcccaagtcctttgtagctcctcttgaacatgt c.*2700
. . . . . . g.109794
ttgccatacttttaaaagggtagttgaataaatagcatcaccattctttgctgtggcaca c.*2760
. . . . . . g.109854
ggttataaacttaagtggagtttaccggcagcatcaaatgtttcagctttaaaaaataaa c.*2820
. . . . . . g.109914
agtagggtacaagtttaatgtttagttctagaaattttgtgcaatatgttcataacgatg c.*2880
. . . . . . g.109974
gctgtggttgccacaaagtgcctcgtttacctttaaatactgttaatgtgtcatgcatgc c.*2940
. . . . . . g.110034
agatggaaggggtggaactgtgcactaaagtgggggctttaactgtagtatttggcagag c.*3000
. . . . . . g.110094
ttgccttctacctgccagttcaaaagttcaacctgttttcatatagaatatatatactaa c.*3060
. . . . . . g.110154
aaaatttcagtctgttaaacagccttactctgattcagcctcttcagatactcttgtgct c.*3120
. . . . . . g.110214
gtgcagcagtggctctgtgtgtaaatgctatgcactgaggatacacaaaaataccaatat c.*3180
. . . . . . g.110274
gatgtgtacaggataatgcctcatcccaatcagatgtccatttgttattgtgtttgttaa c.*3240
. . . . . . g.110334
caaccctttatctcttagtgttataaactccacttaaaactgattaaagtctcattcttg c.*3300
g.110337
tca c.*3303
(downstream sequence)
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