(used for variant description)
(last modified October 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_024022.2 in the TMPRSS3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011629.1, covering TMPRSS3 transcript NM_024022.2.
(upstream sequence)
. . g.5021
accgggcaccggacggctcgg c.-181
. . . . . . g.5081
gtactttcgttcttaattaggtcatgcccgtgtgagccaggaaagggctgtgtttatggg c.-121
. . . . . . g.5141
aagccagtaacactgtggcctactatctcttccgtggtgccatctacatttttgggactc c.-61
. | 02 . . . . g.5674
gggaattat | gaggtagaggtggaggcggagccggatgtcagaggtcctgaaatagtcacc c.-1
. . . . . . g.5734
ATGGGGGAAAATGATCCGCCTGCTGTTGAAGCCCCCTTCTCATTCCGATCGCTTTTTGGC c.60
M G E N D P P A V E A P F S F R S L F G p.20
. . . | 03 . . . g.11080
CTTGATGATTTGAAAATAAGTCCTGTTGCACCAG | ATGCAGATGCTGTTGCTGCACAGATC c.120
L D D L K I S P V A P D | A D A V A A Q I p.40
. . . . . . g.11140
CTGTCACTGCTGCCATTGAAGTTTTTTCCAATCATCGTCATTGGGATCATTGCATTGATA c.180
L S L L P L K F F P I I V I G I I A L I p.60
. . | 04 . . . . g.12081
TTAGCACTGGCCATTGGTCTGGGCA | TCCACTTCGACTGCTCAGGGAAGTACAGATGTCGC c.240
L A L A I G L G I | H F D C S G K Y R C R p.80
. . . . . . g.12141
TCATCCTTTAAGTGTATCGAGCTGATAGCTCGATGTGACGGAGTCTCGGATTGCAAAGAC c.300
S S F K C I E L I A R C D G V S D C K D p.100
. . | 05 . . . . g.12603
GGGGAGGACGAGTACCGCTGTG | TCCGGGTGGGTGGTCAGAATGCCGTGCTCCAGGTGTTC c.360
G E D E Y R C V | R V G G Q N A V L Q V F p.120
. . . . . . g.12663
ACAGCTGCTTCGTGGAAGACCATGTGCTCCGATGACTGGAAGGGTCACTACGCAAATGTT c.420
T A A S W K T M C S D D W K G H Y A N V p.140
. . | 06 . . . . g.15591
GCCTGTGCCCAACTGGGTTTCCCAAG | CTATGTGAGTTCAGATAACCTCAGAGTGAGCTCG c.480
A C A Q L G F P S | Y V S S D N L R V S S p.160
. . . . . . g.15651
CTGGAGGGGCAGTTCCGGGAGGAGTTTGTGTCCATCGATCACCTCTTGCCAGATGACAAG c.540
L E G Q F R E E F V S I D H L L P D D K p.180
. . . | 07 . . . g.17106
GTGACTGCATTACACCACTCAGTATATGTGAG | GGAGGGATGTGCCTCTGGCCACGTGGTT c.600
V T A L H H S V Y V R | E G C A S G H V V p.200
. | 08 . . . . . g.17937
ACCTTGCAGTGCACAG | CCTGTGGTCATAGAAGGGGCTACAGCTCACGCATCGTGGGTGGA c.660
T L Q C T A | C G H R R G Y S S R I V G G p.220
. . . . . . g.17997
AACATGTCCTTGCTCTCGCAGTGGCCCTGGCAGGCCAGCCTTCAGTTCCAGGGCTACCAC c.720
N M S L L S Q W P W Q A S L Q F Q G Y H p.240
. . . . . . g.18057
CTGTGCGGGGGCTCTGTCATCACGCCCCTGTGGATCATCACTGCTGCACACTGTGTTTAT c.780
L C G G S V I T P L W I I T A A H C V Y p.260
| 09 . . . . . . g.18915
GA | CTTGTACCTCCCCAAGTCATGGACCATCCAGGTGGGTCTAGTTTCCCTGTTGGACAAT c.840
D | L Y L P K S W T I Q V G L V S L L D N p.280
. . . . . . g.18975
CCAGCCCCATCCCACTTGGTGGAGAAGATTGTCTACCACAGCAAGTACAAGCCAAAGAGG c.900
P A P S H L V E K I V Y H S K Y K P K R p.300
. . . . . | 10 . g.20887
CTGGGCAATGACATCGCCCTTATGAAGCTGGCCGGGCCACTCACGTTCAATG | AAATGATC c.960
L G N D I A L M K L A G P L T F N E | M I p.320
. . . . . . g.20947
CAGCCTGTGTGCCTGCCCAACTCTGAAGAGAACTTCCCCGATGGAAAAGTGTGCTGGACG c.1020
Q P V C L P N S E E N F P D G K V C W T p.340
. . | 11 . . . g.24437
TCAGGATGGGGGGCCACAGAGGATGGAG | CAGGTGACGCCTCCCCTGTCCTGAACCACGCG c.1080
S G W G A T E D G A | G D A S P V L N H A p.360
. . . . . . g.24497
GCCGTCCCTTTGATTTCCAACAAGATCTGCAACCACAGGGACGTGTACGGTGGCATCATC c.1140
A V P L I S N K I C N H R D V Y G G I I p.380
. . . . . | 12 . g.25229
TCCCCCTCCATGCTCTGCGCGGGCTACCTGACGGGTGGCGTGGACAGCTGCCAG | GGGGAC c.1200
S P S M L C A G Y L T G G V D S C Q | G D p.400
. . . . . . g.25289
AGCGGGGGGCCCCTGGTGTGTCAAGAGAGGAGGCTGTGGAAGTTAGTGGGAGCGACCAGC c.1260
S G G P L V C Q E R R L W K L V G A T S p.420
. . . . . . g.25349
TTTGGCATCGGCTGCGCAGAGGTGAACAAGCCTGGGGTGTACACCCGTGTCACCTCCTTC c.1320
F G I G C A E V N K P G V Y T R V T S F p.440
. . | 13. . g.28345
CTGGACTGGATCCACGAGCAGATGGAG | AGAGACCTAAAAACCTGA c.1365
L D W I H E Q M E | R D L K T X p.454
. . . . . . g.28405
agaggaaggggacaagtagccacctgagttcctgaggtgatgaagacagcccgatcctcc c.*60
. . . . . . g.28465
cctggactcccgtgtaggaacctgcacacgagcagacacccttggagctctgagttccgg c.*120
. . . . . . g.28525
caccagtagcaggcccgaaagaggcacccttccatctgattccagcacaaccttcaagct c.*180
. . . . . . g.28585
gctttttgttttttgtttttttgagatggagtctcgctctgttgcccaggctggagtgca c.*240
. . . . . . g.28645
gtggcgaaatccctgctcactgcagcctccgcttccctggttcaagcgattctcttgcct c.*300
. . . . . . g.28705
cagcttccccagtagctgggaccacaggtgcccgccaccacacccaactaatttttgtat c.*360
. . . . . . g.28765
ttttagtagagacagggtttcaccatgttggccaggctgctctcaaacccctgacctcaa c.*420
. . . . . . g.28825
atgatgtgcctgcttcagcctcccacagtgctgggattacaggcatgggccaccacgcct c.*480
. . . . . . g.28885
agcctcacgctcctttctgatcttcactaagaacaaaagaagcagcaacttgcaagggcg c.*540
. . . . . . g.28945
gcctttcccactggtccatctggttttctctccaggggtcttgcaaaattcctgacgaga c.*600
. . . . . . g.29005
taagcagttatgtgacctcacgtgcaaagccaccaacagccactcagaaaagacgcacca c.*660
. . . . . . g.29065
gcccagaagtgcagaactgcagtcactgcacgttttcatctctagggaccagaaccaaac c.*720
. . . . . . g.29125
ccaccctttctacttccaagacttattttcacatgtggggaggttaatctaggaatgact c.*780
. . . . . . g.29185
cgtttaaggcctattttcatgatttctttgtagcatttggtgcttgacgtattattgtcc c.*840
. . . g.29220
tttgattccaaataatatgtttccttccctcattg c.*875
(downstream sequence)
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