(used for variant description)
(last modified July 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000548.3 in the TSC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_005895.1, covering TSC2 transcript NM_000548.3.
(upstream sequence)
. . . . g.3729
ccggcggcgtcccggggccaggggggtgcgcctttctccgcgtcgg c.-61
. . . . | 02 . . g.4310
ggcggcccggagcgcggtggcgcggcgcggg | aggggttttctggtgcgtcctggtccacc c.-1
. . . . . . g.4370
ATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGA c.60
M A K P T S K D S G L K E K F K I L L G p.20
. . . . . . g.4430
CTGGGAACACCGAGGCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATC c.120
L G T P R P N P R S A E G K Q T E F I I p.40
. | 03 . . . . g.6136
ACCGCGGAAATACTGAGA | GAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATG c.180
T A E I L R | E L S M E C G L N N R I R M p.60
. . . . | 04 . . g.9051
ATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAG | CACGCAGTGGAAGCA c.240
I G Q I C E V A K T K K F E E | H A V E A p.80
. . . . . . g.9111
CTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCG c.300
L W K A V A D L L Q P E R P L E A R H A p.100
. . . | 05 . . . g.10014
GTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAG | GGCGAGCGTTTGGGGGTCCTCAGA c.360
V L A L L K A I V Q G Q | G E R L G V L R p.120
. . . . . . g.10074
GCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTG c.420
A L F F K V I K D Y P S N E D L H E R L p.140
. . . . . . g.10134
GAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTG c.480
E V F K A L T D N G R H I T Y L E E E L p.160
| 06 . . . . . . g.11155
G | CTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTG c.540
A | D F V L Q W M D V G L S S E F L L V L p.180
. . . . . | 07 g.11891
GTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCA | G c.600
V N L V K F N S C Y L D E Y I A R M V Q | p.200
. . . . | 08 . g.12350
ATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAG | GTCTCCCTGCAG c.660
M I C L L C V R T A S S V D I E | V S L Q p.220
. . . . . . g.12410
GTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATC c.720
V L D A V V C Y N C L P A E S L P L F I p.240
. . . . . | 09 . g.12805
GTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAG | CTGATG c.780
V T L C R T I N V K E L C E P C W K | L M p.260
. . . . . . g.12865
CGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATG c.840
R N L L G T H L G H S A I Y N M C H L M p.280
| 10 . . . . . g.14493
GAGGACAG | AGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGC c.900
E D R | A Y M E D A P L L R G A V F F V G p.300
. . . . . . g.14553
ATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTG c.960
M A L W G A H R L Y S L R N S P T S V L p.320
. | 11 . . . . . g.16409
CCATCATTTTACCAG | GCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTG c.1020
P S F Y Q | A M A C P N E V V S Y E I V L p.340
. . . . . . g.16469
TCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATT c.1080
S I T R L I K K Y R K E L Q V V A W D I p.360
. . . | 12 . . g.17586
CTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAG | ACCTTGGACAGCCCGGAGCTC c.1140
L L N I I E R L L Q Q L Q | T L D S P E L p.380
. . . . . . g.17646
AGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTC c.1200
R T I V H D L L T T V E E L C D Q N E F p.400
. . . . . | 13. g.18194
CACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCT | GAG c.1260
H G S Q E R Y F E L V E R C A D Q R P | E p.420
. . . . . . g.18254
TCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGC c.1320
S S L L N L I S Y R A Q S I H P A K D G p.440
. . . . | 14 . . g.18685
TGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAG | GAGCGAGTCCCGAGGCGCC c.1380
W I Q N L Q A L M E R F F R | S E S R G A p.460
. . . . . . g.18745
GTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTAT c.1440
V R I K V L D V L S F V L L I N R Q F Y p.480
| 15 . . . . . . g.20023
GAG | GAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAA c.1500
E | E E L I N S V V I S Q L S H I P E D K p.500
. . . . . . g.20083
GACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCAC c.1560
D H Q V R K L A T Q L L V D L A E G C H p.520
. . . | 16 . . g.21234
ACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAG | GTGATGGCCCGCTCCCTCTCC c.1620
T H H F N S L L D I I E K | V M A R S L S p.540
. . . . . . g.21294
CCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTG c.1680
P P P E L E E R D V A A Y S A S L E D V p.560
. . . | 17 . . . g.26174
AAGACAGCCGTCCTGGGGCTTCTGGTCATCCTTCAG | ACCAAGCTGTACACCCTGCCTGCA c.1740
K T A V L G L L V I L Q | T K L Y T L P A p.580
. . . . . . g.26234
AGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCAC c.1800
S H A T R V Y E M L V S H I Q L H Y K H p.600
. . . | 18 . . g.27225
AGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAG | GCCTTTGACTTCCTGTTGCTG c.1860
S Y T L P I A S S I R L Q | A F D F L L L p.620
. . . . . . g.27285
CTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTC c.1920
L R A D S L H R L G L P N K D G V V R F p.640
. . | 19 . . . . g.27512
AGCCCCTACTGCGTCTGCGACTACAT | GGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGC c.1980
S P Y C V C D Y M | E P E R G S E K K T S p.660
. . . . . . g.27572
GGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGG c.2040
G P L S P P T G P P G P A P A G P A V R p.680
. . . . . | 20. g.27938
CTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAG | GAG c.2100
L G S V P Y S L L F R V L L Q C L K Q | E p.700
. . . . . . g.27998
TCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAA c.2160
S D W K V L K L V L G R L P E S L R Y K p.720
. . . . . . g.28058
GTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATG c.2220
V L I F T S P C S V D Q L C S A L C S M p.740
| 21 . . . . . . g.28603
| CTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACT c.2280
| L S G P K T L E R L R G A P E G F S R T p.760
. . . . . . g.28663
GACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTG c.2340
D L H L A V V P V L T A L I S Y H N Y L p.780
. | 22 . . . . . g.29939
GACAAAACCAAACAG | CGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGT c.2400
D K T K Q | R E M V Y C L E Q G L I H R C p.800
. . . . . . g.29999
GCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATC c.2460
A S Q C V V A L S I C S V E M P D I I I p.820
. . . . . . g.30059
AAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCC c.2520
K A L P V L V V K L T H I S A T A S M A p.840
. . | 23 . . . . g.31528
GTCCCACTGCTGGAGTTCCTGTCCA | CTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTT c.2580
V P L L E F L S T | L A R L P H L Y R N F p.860
. . . . . | 24 g.31763
GCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAA | G c.2640
A A E Q Y A S V F A I S L P Y T N P S K | p.880
. . . . . . g.31823
TTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGC c.2700
F N Q Y I V C L A H H V I A M W F I R C p.900
. . . . | 25 . . g.32203
CGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAG | GGCCTGCGGTCCAATGTC c.2760
R L P F R K D F V P F I T K | G L R S N V p.920
. . . . . . g.32263
CTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTC c.2820
L L S F D D T P E K D S F R A R S T S L p.940
. | 26. . . . . g.33335
AACGAGAGACCCAAGAG | TCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCT c.2880
N E R P K S | L R I A R P P K Q G L N N S p.960
. . . . . . g.33395
CCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATC c.2940
P P V K E F K E S S A A E A F R C R S I p.980
. . | 27 . . . . g.34760
AGTGTGTCTGAACATGTGGTCCGCAG | CAGGATACAGACGTCCCTCACCAGTGCCAGCTTG c.3000
S V S E H V V R S | R I Q T S L T S A S L p.1000
. . . . . . g.34820
GGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTG c.3060
G S A D E N S V A Q A D D S L K N L H L p.1020
. . . . . . g.34880
GAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCT c.3120
E L T E T C L D M M A R Y V F S N F T A p.1040
. | 28 . . . . . g.35019
GTCCCGAAGAG | GTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGG c.3180
V P K R | S P V G E F L L A G G R T K T W p.1060
. . . . . . g.35079
CTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTA c.3240
L V G N K L V T V T T S V G T G T R S L p.1080
. . . . | 29 . . g.35267
CTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAG | CTCCAGCCCCGGGGTG c.3300
L G L D S G E L Q S G P E S S | S S P G V p.1100
. . . . . . g.35327
CATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTG c.3360
H V R Q T K E A P A K L E S Q A G Q Q V p.1120
. . . | 30. . . g.35882
TCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGG | GGGGCCATGGTCTTCGAGTTGGC c.3420
S R G A R D R V R S M S G | G H G L R V G p.1140
. . . . . . g.35942
GCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACT c.3480
A L D V P A S Q F L G S A T S P G P R T p.1160
. . . . . . g.36002
GCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAG c.3540
A P A A K P E K A S A G T R V P V Q E K p.1180
. . . . . . g.36062
ACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGG c.3600
T N L A A Y V P L L T Q G W A E I L V R p.1200
. | 31 . . . . . g.37339
AGGCCCACAG | GGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCC c.3660
R P T G | N T S W L M S L E N P L S P F S p.1220
. . . . . . g.37399
TCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGC c.3720
S D I N N M P L Q E L S N A L M A A E R p.1240
. . . . . . g.37459
TTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACG c.3780
F K E H R D T A L Y K S L S V P A A S T p.1260
. . . | 32 . . . g.38156
GCCAAACCCCCTCCTCTGCCTCGCTCCAACACAG | TGGCCTCTTTCTCCTCCCTGTACCAG c.3840
A K P P P L P R S N T V | A S F S S L Y Q p.1280
. . . . | 33 . . g.39406
TCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAG | ACTCCGCCGTGGTCATG c.3900
S S C Q G Q L H R S V S W A D | S A V V M p.1300
. . . . . . g.39466
GAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTT c.3960
E E G S P G E V P V L V E P P G L E D V p.1320
. . . . | 34 . . g.39937
GAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGG | TCGTCCTCAGTCTCC c.4020
E A A L G M D R R T D A Y S R | S S S V S p.1340
. . . . . . g.39997
AGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAG c.4080
S Q E E K S L H A E E L V G R G I P I E p.1360
. . . . . . g.40057
CGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAG c.4140
R V V S S E G G R P S V D L S F Q P S Q p.1380
. . . . . . g.40117
CCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGAC c.4200
P L S K S S S S P E L Q T L Q D I L G D p.1400
. . . . . . g.40177
CCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCA c.4260
P G D K A D V G R L S P E V K A R S Q S p.1420
. . . . . . g.40237
GGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAG c.4320
G T L D G E S A A W S A S G E D S R G Q p.1440
. . . . . . g.40297
CCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGT c.4380
P E G P L P S S S P R S P S G L R P R G p.1460
. . . . . . g.40357
TACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTA c.4440
Y T I S D S A P S R R G K R V E R D A L p.1480
. . . . . | 35 . g.40652
AAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAG | TTTCGTG c.4500
K S R A T A S N A E K V P G I N P S | F V p.1500
. . . . . . g.40712
TTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTG c.4560
F L Q L Y H S P F F G D E S N K P I L L p.1520
| 36 . . . . . g.40975
CCCAATGAG | TCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATAC c.4620
P N E | S Q S F E R S V Q L L D Q I P S Y p.1540
. . . . | 37 . . g.41905
GACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAG | AGCAACAGCGAGCTCGCC c.4680
D T H K I A V L Y V G E G Q | S N S E L A p.1560
. . . . . . g.41965
ATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGG c.4740
I L S N E H G S Y R Y T E F L T G L G R p.1580
. . . . . . g.42025
CTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGT c.4800
L I E L K D C Q P D K V Y L G G L D V C p.1600
. . . . | 38 . g.42437
GGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAG | CCGTCTTCCAC c.4860
G E D G Q F T Y C W H D D I M Q A | V F H p.1620
. . . . . . g.42497
ATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCAC c.4920
I A T L M P T K D V D K H R C D K K R H p.1640
. . . . . . g.42557
CTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGC c.4980
L G N D F V S I V Y N D S G E D F K L G p.1660
| 39 . . . . . g.43608
ACCATCAAG | GGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGC c.5040
T I K | G Q F N F V H V I V T P L D Y E C p.1680
. . | 40 . . . g.43774
AACCTGGTGTCCCTGCAGTGCAGGAAAG | ACATGGAGGGCCTTGTGGACACCAGCGTGGCC c.5100
N L V S L Q C R K D | M E G L V D T S V A p.1700
. . . . . . g.43834
AAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAAT c.5160
K I V S D R N L P F V A R Q M A L H A N p.1720
| 41 . . . . . . g.43981
| ATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGG c.5220
| M A S Q V H H S R S N P T D I Y P S K W p.1740
. . . | 42 . . g.44161
ATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGG | ATCTGCGAGGAAGCCGCCTAC c.5280
I A R L R H I K R L R Q R | I C E E A A Y p.1760
. . . . . . g.44221
TCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACT c.5340
S N P S L P L V H P P S H S K A P A Q T p.1780
. . . . . . g.44281
CCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTG c.5400
P A E P T P G Y E V G Q R K R L I S S V p.1800
. . g.44305
GAGGACTTCACCGAGTTTGTGTGA c.5424
E D F T E F V X p.1807
. . . . . . g.44365
ggccggggccctccctcctgcactggccttggacggtattgcctgtcagtgaaataaata c.*60
. . . . g.44407
aagtcctgaccccagtgcacagacatagaggcacagattgca c.*102
(downstream sequence)
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