(used for variant description)
(last modified January 19, 2019)
This file was created to facilitate the description of sequence variants in the TPM3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008621.1, covering TPM3 transcript variant 1 (NM_152263.2). TPM3 transcription is rather complex with transcript variants 2-5 starting from analternative promoter/exon 01b in intron 2, incorporating an alternative exon 6a (transcript variants 2 and 3, derived from intron 5) and using two alternative 3' terminal exons 10b (transcript variants 3 (NM_001043352.1) and 5 (NM_001043353.1)) and 10c (transcript variants 2 (NM_153649.3) and 4 (NM_001043351.1)); this last exon uses also several different poly-A addition sites.
Please note that introns are available by clicking on the exon numbers above thesequence.
(upstream sequence)
. . . . . g.5055
agataaagactcaagtctggggacctcctggtcactcaggcagcagccccttctt c.-61
. . . . . . g.5115
tcttgccccagtctccagttctccagtgttcacaggtgagcctaccaacagccactgctc c.-1
. . . . . . g.5175
ATGATGGAGGCCATCAAGAAAAAGATGCAGATGCTGAAGTTAGACAAGGAGAATGCTCTG c.60
M M E A I K K K M Q M L K L D K E N A L p.20
. . . . . | 02. g.5825
GATCGGGCAGAGCAAGCTGAAGCTGAGCAGAAGCAGGCAGAAGAAAGAAGTAAACAG | CTG c.120
D R A E Q A E A E Q K Q A E E R S K Q | L p.40
. . . . . . g.5885
GAGGATGAGCTGGCAGCCATGCAGAAGAAGCTGAAAGGGACAGAGGATGAGCTGGACAAG c.180
E D E L A A M Q K K L K G T E D E L D K p.60
. . . . . . g.5945
TATTCTGAAGCTTTGAAGGATGCCCAGGAGAAGCTGGAACTGGCAGAGAAGAAGGCTGCT c.240
Y S E A L K D A Q E K L E L A E K K A A p.80
| 03 . . . . . . g.20942
GAT | GCTGAGGCTGAGGTGGCCTCCTTGAACCGTAGGATCCAGCTGGTTGAAGAAGAGCTG c.300
D | A E A E V A S L N R R I Q L V E E E L p.100
^ alternative promoter / exon 01b (encoding amino acids p.82-44 to p.82-1)
. . . . . . g.21002
GACCGTGCTCAGGAGCGCCTGGCCACTGCCCTGCAAAAGCTGGAAGAAGCTGAAAAAGCT c.360
D R A Q E R L A T A L Q K L E E A E K A p.120
. | 04. . . . . g.23975
GCTGATGAGAGTGAGAG | AGGTATGAAGGTTATTGAAAACCGGGCCTTAAAAGATGAAGAA c.420
A D E S E R | G M K V I E N R A L K D E E p.140
. . . . . . g.24035
AAGATGGAACTCCAGGAAATCCAACTCAAAGAAGCTAAGCACATTGCAGAAGAGGCAGAT c.480
K M E L Q E I Q L K E A K H I A E E A D p.160
. | 05 . . . . . g.24200
AGGAAGTATGAAGAG | GTGGCTCGTAAGTTGGTGATCATTGAAGGAGACTTGGAACGCACA c.540
R K Y E E | V A R K L V I I E G D L E R T p.180
. . | 06 . . . . g.25679
GAGGAACGAGCTGAGCTGGCAGAGTC | TAAGTGTTCTGAGCTGGAGGAGGAGCTGAAGAAT c.600
E E R A E L A E S | K C S E L E E E L K N p.200
^ alternative exon 06a (encoding amino acids p.189+1 to p.189+25)
. . . . | 07 . . g.26440
GTCACCAACAACCTCAAGTCTCTTGAGGCTCAGGCGGAGAAG | TACTCTCAAAAAGAAGAT c.660
V T N N L K S L E A Q A E K | Y S Q K E D p.220
. . . . | 08 . . g.26679
AAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG | GCAGAGACCCGTGCT c.720
K Y E E E I K I L T D K L K E | A E T R A p.240
. . . . . | 09 . g.27755
GAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG | ATGAG c.780
E F A E R S V A K L E K T I D D L E D | E p.260
^ alternative
3'-terminal exons 10b and 10c are used by other transcripts, yielding 2
additional alternative C-termini (see downstream sequence)
. . . . . . g.27815
CTCTATGCCCAGAAACTGAAGTACAAGGCCATTAGCGAGGAGCTGGACCACGCCCTCAAT c.840
L Y A Q K L K Y K A I S E E L D H A L N p.280
. | 10 g.29239
GACATGACCTCTAT | ATAA c.858
D M T S I | X p.285
. . . . . . g.29299
ttatcaccgtttctgctctgttctggatctgccccctttactcctcggggaacccaaggc c.*60
. . . . . . g.29359
cccactctcgctctggattccatttgggtcagcctggctggtccccaaggcattaggatg c.*120
. . . . . . g.29419
ggggagcaaaaagcaacttatgtattttcttccacccccaccccaaattaaaatgttaag c.*180
. . . . . . g.29479
ctgctggaaacctcatgccaccctgcatttgtgtcattgacaaagctgttgctgtcccta c.*240
. . . . . . g.29539
agaaggagccttgggggtgtgatgtggggaagagctattgtaggctccccctcctctgac c.*300
. . . . . . g.29599
ttatgtaatcaaagccacttttgtgtgtgtctattttttcttgacatttaaactcagctg c.*360
. . . . . . g.29659
atctgattctaccagagtgatggatttagtacaggttactcaggatagtaattttagtta c.*420
. . . . . . g.29719
tactcctcaagctgaacaagattaaattccttatttccaggttcttaaatcatcctgcct c.*480
. . . . . . g.29779
gcagtgtttccattctctcttcaggtattcctcctttggtgtggtgtcattgagaagcca c.*540
. . . . . . g.29839
ttgaagtgactctcaatacacattctgtacccttttaccggtggttcaaatggtgcatcc c.*600
. . . . . . g.29899
tcagaacacccagtgaacccaatacattattgctaagattgactaattatgtcaactcca c.*660
. . . . . . g.29959
gtcacagaaaaatacacaatggatagaattctggacggtttttttactttttcttcttta c.*720
. . . . . . g.30019
aacctttcttacatatttgagacttgctaccatttgcctgctagtgtgtgactagtggga c.*780
. . . . . . g.30079
tataagataagtgataaattattattgggaaaactaaaatgaccaatcatgcatatttca c.*840
. . . . . . g.30139
aataatgtgcatatgaggctaatgatttattacatacataaatttctgctagtaaaattt c.*900
. . . . . . g.30199
tccttggttcatattgtggaattaaatatcaacattttagaaattcccattataggccgg c.*960
. . . . . . g.30259
gcgtggtagctcacgcctataatcccagcactttgggaggctggggcaggtggatcacct c.*1020
. . . . . . g.30319
gaggtcatgagttcgagaccagctcggccaacatggtgaaaccccgtctctactaaaaat c.*1080
. . . . . . g.30379
acaaaaattagctgggcatggtgggtgggtgcctgtaatcccagctactcgggaggctga c.*1140
. . . . . . g.30439
ggcaggagaatcgcttgcacctgggaggcggaggttgcagtgagcggagatcgcgccact c.*1200
. . . . . . g.30499
gcattccagcctgggcaacagagagactccatctcaaaaaaaaaaaaggaattcgcattc c.*1260
. . . . . . g.30559
caatttacacagcagagatttcttaatagtatagctgtgaattatactaatccaagcacg c.*1320
. . . . . . g.30619
taagtgttgttcacttagtactttagtttcccagcagggtatgtatttaaaatttgcttt c.*1380
. . . . . . g.30679
tcttttagctgggtgcaatggcacttgcctgtactgcctgtagcttcttgggaggctgag c.*1440
. . . . . . g.30739
gcaggaggattgcttgagcccaggagttctgcactgtagtgtgctatgcaggtcagatgt c.*1500
. . . . . . g.30799
cctcactaaatttggcatcagtatggtgacctcctgggagtggagaacaacaaggttgcc c.*1560
. . . . . . g.30859
taagaaggggtgaactggcccaggtcggaaatggagcaggtcaaaattcctgtgctgatc c.*1620
. . . . . . g.30919
agtagtgggattgcacctataaatagccactgtagtactccagcctgggcaacacagcaa c.*1680
. . . . . . g.30979
gattccatctgttaaaaacacttttgctcttcttttaaacagatataatcaggtagggaa c.*1740
. . . . . . g.31039
gttttccttaatctaaaactttaagtcatatcaaattcacgtttccttttgtccattcca c.*1800
. . . . . . g.31099
tttcttactgccgcatagcctttgagattaaggttcagattcatttattcagctgacact c.*1860
. . . . . . g.31159
tcctggtatcttctaggtataggatattaagatggagacagaaataaagatggaggcacc c.*1920
. . . . . . g.31219
attcctactctcaagttgcttagaatctactaggagagaaaacatacataaagctacaga c.*1980
. . . . . . g.31279
tactgtgtgatgaatgccacaaataatagtgttatgggaattgagtagaggggacgagat c.*2040
. . . . . . g.31339
tgatcctagtgggaatgaattggaaaaactcatggaagaaggcatgtaatgggtacttca c.*2100
. . . . . . g.31399
taaacatgttaaaacttttttctttttttctttttttttttttttttgagacggagtttg c.*2160
. . . . . . g.31459
actcttgtcacctaggctggagttcagtggcctgatctcagctcactgcaacctctgcct c.*2220
. . . . . . g.31519
cctgggttcaagcagttctcccacctcagcctcccgagtagctgagatcacaggcgcctg c.*2280
. . . . . . g.31579
ccaccacacccagctaatttttgtattattagtagaggtgaggtttcaccatgttggcca c.*2340
. . . . . . g.31639
ggctggtctggaactcctgacctcaagtgatccacccacctcagcctcccaaagtgatgg c.*2400
. . . . . . g.31699
gattacaggcttgagccactgcgcccagccaacatgttaaacttgcatattcatttttat c.*2460
. . . . . . g.31759
tgggttccaaaagtggatttttgacaagcagagttgggttgtgggatagtgaatattgag c.*2520
. . . . . . g.31819
cattccattatttatttatttttctctttttgagatggagtctcgctctgtcacccaggc c.*2580
. . . . . . g.31879
tggatggagtgcagtggtgagatcatggctcactgcaacctctgcttcttgagttcaagc c.*2640
. . . . . . g.31939
gattctcctgtctcagcttcccgaggagctgtgattacagatacccaccaccatgcccag c.*2700
. . . . . . g.31999
ctgatttttgtatttttagtacggacggggtttcagcatgttggccaggctggtcgcgaa c.*2760
. . . . . . g.32059
ctcctgacctcaagtgatccacccgcctctgcctcccaaagtgttgggattacaggcgtg c.*2820
. . . . . . g.32119
agccactgcacctggcctgagcattccatttaaagagaaacaaaataataaaggcattga c.*2880
. . . . . . g.32179
tagagatgagaaggccacaatagctctaaaggtagatttagacagagtagggaacaggtt c.*2940
. . . . . . g.32239
gtgtcttaaaatgaggctgaggagttataattttacttggagttaatggggatgccactg c.*3000
. . . . . . g.32299
gagattttgaataggatatgttgtgatctgaataacatataagaagaattaatttggtaa c.*3060
. . . . . . g.32359
ctaatttgcagattagcaaagtgattcactaacatggtgtttctcacatttcagccattt c.*3120
. . . . . . g.32419
atgttaccatttttgatggctttttccatattcattgctgcctacattgttttcttcaga c.*3180
. . . . . . g.32479
tctactcatttccagatttattttgttcttacttgacacaattctattttgaaatcaaag c.*3240
. . . . . . g.32539
ttttgatgtgttagtgttttttcctaatcacattaaagtaactatagcagtgaatacacc c.*3300
. . . . . . g.32599
acactttggaaaaaattgggttaggttaatttagttttctaggagagaataatcagggtc c.*3360
. . . . . . g.32659
tgagctagagtagtggcaggagagatagcactaaataaagacaggcattgtgaaaggcct c.*3420
. . . . . . g.32719
ggccacttgatgtgaggaggaaagacaaggatgactggtttttagagtaggagaattagc c.*3480
. . . . . . g.32779
cgggtgcagtggctcatgcctgtaatccctgcactttaggaggctgaggtgagaggattt c.*3540
. . . . . . g.32839
cttgaatccaggagttcgagaccagcctggcaataaagtgagaacctgtctctacaaaat c.*3600
. . . . . . g.32899
ataaaaacttagccaaacatggtggtgcgtgcctgcagtcctatctacttggagggccga c.*3660
. . . . . . g.32959
agccagaggatcctttgagcccaggagtctgaggctgcagcaagctgtgatcacactgct c.*3720
. . . . . . g.33019
gcactccatcctgggtggcagaatgagaccccccccaaaaaaagagtaggaaagtggtgg c.*3780
. . . . . . g.33079
ggttaaagatgtagggagatcatgttgtcctggtttggggagctgggggaagggaaagaa c.*3840
. . . . . . g.33139
gatacggctgacaatctggcaggtatctgggtgaaaacaaaattctagggcgtgaggcag c.*3900
. . . . . . g.33199
agaggttgacataagagagttgggaatccatatggggtacaggtagtttatgccatggag c.*3960
. . . . . . g.33259
gtaaattagaaccatgaaggacaattgcaaatacaaaaaaaagaggccaggcacggtggc c.*4020
. . . . . . g.33319
tcacgcctgtaatcccagcactttgggaggccgaggtgggcggatcacgaggtcaggaga c.*4080
. . . . . . g.33379
tcaagaccatcctggctgacacgttgaaaccccgtctctactaaaaatacaaaaaattag c.*4140
. . . . . . g.33439
ctgggcgtggttgcgggcacctgtagtcccaactacttgggaggctgaggcaggagaatg c.*4200
. . . . . . g.33499
gcgtgaacccgggaggcggagcttgtagtgagctgagattgtgccacggcattccagcct c.*4260
. . . . . . g.33559
gggtgacagagcaagactctgtctcaaaaaaaaattaaacaatgaggaaaacgttatgta c.*4320
. . . . . . g.33619
agaggaggaaccaaatggaactgattggagggaaagaagacggttgagtagttctttaaa c.*4380
. . . . . . g.33679
aagttccgggttggatgctttctagtggtttttcaacagagaggctaagaaggaagataa c.*4440
. . . . . . g.33739
ctgaaaatgggacatgcattgatactttagtaatttgagggtacattttgagtgttaaga c.*4500
. . . . . . g.33799
agtgaagaggaggagtcattttcaggggcaaaagagtgtattggtaggaagattatatag c.*4560
. . . . . . g.33859
gcaatataatttactttagagcagggctttccaacagaacttttggtaatgatgtctagt c.*4620
. . . . . . g.33919
acattagccacatgtggcagtcaagcactcaaaacatggctagtgtggctgaggggctaa c.*4680
. . . . . . g.33979
aatttaattgtatttcattgtagttcatttaaatttggctacctgtggctagtggctatt c.*4740
. . . . . . g.34039
atattggacaatgcatttctaaatattcagatcctgggcagaagttggctttgacatgaa c.*4800
. . . . . . g.34099
gaaagacttcttagaaaggaaggaagtagaccgggcatggtggctcatgcctgtaatccc c.*4860
. . . . . . g.34159
aacactttgggaagccgaggcaggtggatcacaaggtcaagagatcaagaccatcctggc c.*4920
. . . . . . g.34219
caacgtggtgaaaacctgtctctactaaaaatacaaaaattagctggacatggtggcaca c.*4980
. . . . . . g.34279
tgcctgtagtcccaactactcgagaggctgaggcaggagagaaaaaaaagaaggaaataa c.*5040
. . . . . . g.34339
gagggagattgggagaaaagtaaggtgttatagctctgatctgtggtatctcctgttttc c.*5100
. . . . . . g.34399
cttgcggtatgactagtgtgagccaaggatagagaccaacaaactggggtaccaaagtgg c.*5160
. . . . . . g.34459
acaatgaagtactatgtaattagtgctaatgctaaattcattcctttgtttaaggcttaa c.*5220
. . . . . . g.34519
tatccttgcagaagccatcctgtgttacttgagcctggactagtattggggtgaagtcaa c.*5280
. . . . . . g.34579
gcatcagagtaaaacatttgtccccttaatgttaccccctcttaatttctaagaaccaca c.*5340
. . . . . . g.34639
ggcccattttgcccttccttgttaccatcattgagataaggaataagatgtagtaacccc c.*5400
. . . . . . g.34699
aagttatctgataggtacaactgacctattctgtttggcagctttatcttagacctattc c.*5460
. . . . . . g.34759
tgtttggcagctttatcttagccccaaccaaatctcttcctttcacatggtgttggttga c.*5520
. . . . . . g.34819
atactatccaactccatggggttggtttgtgtttttttttttttttttttttgagacgga c.*5580
. . . . . . g.34879
gtcttgctctgttgcccaggctggagtgcggtggtgtgatcttggctcactgcaagctcc c.*5640
. . . . . . g.34939
gcctcctgggtttaagtgatcctcctgcctcagcctcctgaatagctgggattacaggca c.*5700
. . . . . . g.34999
cgtgcaaccaagcccggctaatttttgtgtttttagtagagactaggtttcaacatgtta c.*5760
. . . . . . g.35059
ggctgatctcaaactcctgacctcgtgatctgcccgcctcggccttccaaagtgctgggg c.*5820
. . . . . . g.35119
ttacagacttgagccactgcacctggccatggggttgtttcttaattagatatagctgaa c.*5880
. . . . . . g.35179
aagaacgctagaccaaataggttctctgccttgccttttcgtttgttttgttttagctat c.*5940
. . . . . . g.35239
tatcagggaaccaaaaactttaaggagctagtactggtcttaatttttaataactagaga c.*6000
. . . . . . g.35299
tagcagagttagaaactaagttcaaagtgagagaacagctgcatttgtctttctgacctc c.*6060
. . . . . . g.35359
atgcaattcctaggaaactctgtgttctgtgatttagtcaggcaataaaatgctctcact c.*6120
g.35362
cct c.*6123
(downstream sequence)
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