(used for variant description)
(last modified June 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001128228.2 in the TPRN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027801.1, covering TPRN transcript NM_001128228.2.
(upstream sequence)
. . . . . . g.60
ATGGCCGCCCTGGGGCGGCCGGGCTCGGGGCCGCGCGCTGCGGTGCCCGCTTGGAAGCGT c.60
M A A L G R P G S G P R A A V P A W K R p.20
. . . . . . g.120
GAGATCCTGGAGCGGAAGCGGGCCAAGCTAGCCGCGCTGGGCGGGGGCGCGGGGCCCGGG c.120
E I L E R K R A K L A A L G G G A G P G p.40
. . . . . . g.180
GCGGCGGAGCCCGAGCAGCGGGTGCTGGCCGAGAGCCTGGGCCCGCTGCGCGAGAACCCG c.180
A A E P E Q R V L A E S L G P L R E N P p.60
. . . . . . g.240
TTCATGCTGCTGGAGGCCGAGCGGCGGCGCGGCGGGGGCGCGGCGGGGGCGCGGCTGCTG c.240
F M L L E A E R R R G G G A A G A R L L p.80
. . . . . . g.300
GAGCGGTACCGCCGCGTGCCTGGCGTGCGCGCCCTCCGCGCCGACAGCGTCCTCATCATC c.300
E R Y R R V P G V R A L R A D S V L I I p.100
. . . . . . g.360
GAGACGGTGCCCGGCTTCCCGCCCGCGCCGCCCGCCCCGGGGGCCGCGCAGATCCGCGCC c.360
E T V P G F P P A P P A P G A A Q I R A p.120
. . . . . . g.420
GCCGAGGTGCTGGTGTACGGGGCGCCGCCCGGCCGCGTCAGCCGCCTACTGGAGAGGTTC c.420
A E V L V Y G A P P G R V S R L L E R F p.140
. . . . . . g.480
GACCCGCCCGCCGCGCCGCGCCGCCGCGGGAGCCCCGAGCGCGCCCGCCCCCCGCCGCCG c.480
D P P A A P R R R G S P E R A R P P P P p.160
. . . . . . g.540
CCGCCGCCGCCCGCGCCGCCCCGGCCCCCGCCCGCGGCCCCCAGCCCGCCCGCCGCGCCC c.540
P P P P A P P R P P P A A P S P P A A P p.180
. . . . . . g.600
GGGCCCCGCGGTGGCGGGGCGAGCCCCGGGGCCCGGCGCAGCGACTTCCTCCAGAAGACC c.600
G P R G G G A S P G A R R S D F L Q K T p.200
. . . . . . g.660
GGCAGCAACTCCTTCACCGTCCACCCCCGGGGTCTGCACCGCGGCGCGGGCGCCCGCCTG c.660
G S N S F T V H P R G L H R G A G A R L p.220
. . . . . . g.720
CTCTCCAACGGGCACTCGGCCCCTGAGCCCCGGGCCGGCCCTGCCAACCGCCTCGCGGGC c.720
L S N G H S A P E P R A G P A N R L A G p.240
. . . . . . g.780
TCCCCGCCTGGGTCGGGACAGTGGAAGCCAAAGGTGGAGTCGGGGGATCCCTCCCTCCAC c.780
S P P G S G Q W K P K V E S G D P S L H p.260
. . . . . . g.840
CCGCCCCCCAGCCCCGGGACCCCGAGTGCCACTCCAGCCTCACCCCCTGCCAGTGCCACT c.840
P P P S P G T P S A T P A S P P A S A T p.280
. . . . . . g.900
CCTAGCCAGCGCCAGTGCGTCTCCGCAGCCACCAGCACCAACGACTCCTTCGAGATACGG c.900
P S Q R Q C V S A A T S T N D S F E I R p.300
. . . . . . g.960
CCGGCCCCCAAGCCAGTTATGGAGACCATCCCCTTGGGGGACCTCCAGGCCCGGGCGCTG c.960
P A P K P V M E T I P L G D L Q A R A L p.320
. . . . . . g.1020
GCCAGCCTCCGCGCAAACTCTCGAAATTCTTTCATGGTCATCCCCAAGAGCAAGGCCTCC c.1020
A S L R A N S R N S F M V I P K S K A S p.340
. . . . . . g.1080
GGGGCTCCTCCTCCTGAGGGGAGGCAGTCCGTGGAGCTGCCAAAGGGAGACCTGGGCCCG c.1080
G A P P P E G R Q S V E L P K G D L G P p.360
. . . . . . g.1140
GCCTCCCCGAGCCAGGAGCTCGGATCCCAGCCGGTGCCTGGAGGGGATGGTGCGCCTGCC c.1140
A S P S Q E L G S Q P V P G G D G A P A p.380
. . . . . . g.1200
CTCGGGAAGAGCCCCCTGGAGGTCGAGGCACAGTGGGCAGTCGAGGAGGGGGCCTGTCCC c.1200
L G K S P L E V E A Q W A V E E G A C P p.400
. . . . . . g.1260
AGGACAGCCACCGCCCTCGCTGACCGGGCTATTAGGTGGCAGAGGCCGTCCTCACCGCCC c.1260
R T A T A L A D R A I R W Q R P S S P P p.420
. . . . . . g.1320
CCCTTCCTGCCGGCTGCTTCGGAAGAAGCTGAGCCTGCTGAGGGCCTCAGGGTTCCTGGC c.1320
P F L P A A S E E A E P A E G L R V P G p.440
. . . . . . g.1380
TTGGCCAAGAATAGCCGGGAATATGTGAGGCCGGGGCTGCCTGTCACCTTCATCGATGAG c.1380
L A K N S R E Y V R P G L P V T F I D E p.460
. . . . . . g.1440
GTAGACTCGGAGGAGGCCCCCCAAGCAGCCAAACTACCCTACCTCCCGCACCCTGCCAGG c.1440
V D S E E A P Q A A K L P Y L P H P A R p.480
. . . . . . g.1500
CCTCTGCACCCTGCCAGGCCCGGGTGCGTGGCAGAGCTTCAGCCCCGGGGCAGCAACACC c.1500
P L H P A R P G C V A E L Q P R G S N T p.500
. . . . . . g.1560
TTCACAGTGGTGCCCAAGAGGAAGCCAGGGACTCTGCAGGACCAGCACTTCAGTCAGGCC c.1560
F T V V P K R K P G T L Q D Q H F S Q A p.520
. . . . . . g.1620
AACAGGGAGCCTCGGCCACGGGAGGCCGAGGAGGAGGAGGCTAGTTGCCTCCTGGGGCCC c.1620
N R E P R P R E A E E E E A S C L L G P p.540
. . . . . . g.1680
ACGTTGAAGAAGCGCTACCCCACCGTGCATGAGATCGAGGTGATTGGCGGCTACCTGGCC c.1680
T L K K R Y P T V H E I E V I G G Y L A p.560
. . . . | 02 . . g.8035
CTGCAGAAGTCCTGCCTCACCAAGGCTGGCTCCTCAAGAAAGAAG | ATGAAGATCTCCTTC c.1740
L Q K S C L T K A G S S R K K | M K I S F p.580
. . . . . . g.8095
AACGACAAAAGCCTGCAGACCACATTTGAGTACCCTTCCGAGAGCTCCCTAGAGCAGGAG c.1800
N D K S L Q T T F E Y P S E S S L E Q E p.600
. . . . . . g.8155
GAAGAGGTGGACCAGCAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAAGAGGAGGAA c.1860
E E V D Q Q E E E E E E E E E E E E E E p.620
. . . . . . g.8215
GAGGGATCCGGCTCAGAGGAGAAGCCCTTTGCACTCTTCCTGCCCCGGGCCACGTTTGTG c.1920
E G S G S E E K P F A L F L P R A T F V p.640
. . . . | 03 . . g.8360
AGCAGCGTGAGACCCGAGAGCTCTCGGCTGCCAGAGGGTAGCTCAG | GCCTGTCCAGCTAC c.1980
S S V R P E S S R L P E G S S G | L S S Y p.660
. . . . . . g.8420
ACCCCGAAGCACTCTGTGGCCTTCAGCAAGTGGCAGGAGCAGGCGCTGGAGCAGGCCCCG c.2040
T P K H S V A F S K W Q E Q A L E Q A P p.680
. . . | 04 . . . g.8564
AGGGAGGCAGAGCCCCCGCCCGTGGAGGCCATG | CTCACACCCGCCAGTCAGAATGACCTC c.2100
R E A E P P P V E A M | L T P A S Q N D L p.700
. . . g.8600
TCGGACTTCCGCAGCGAGCCAGCCCTGTATTTCTGA c.2136
S D F R S E P A L Y F X p.711
. . . . . . g.8660
gcccagcactgccaggaccaaggctgagcccagctgtgggagtcccggaagctgggcagt c.*60
. . . . . . g.8720
agccagggactactgcacccgcttctgccttgtttggcctcactgtatcccacccacccc c.*120
. . . . . . g.8780
tcctggccctggaagcagctagggtgcctcctgccatcggggccaggtctgggtctcact c.*180
. . . . . . g.8840
ccccggccctgatttgggagggtccaagggggaagtggggtggggaactgcctgtgggtg c.*240
. . . . . . g.8900
agtgccaggggcctgctgggtggtggccatctgcgacccggcagggggctgtgcagattc c.*300
. . . . . . g.8960
tgcacctggccattccctgtcctgtctcctcagcctgcctcacagtggccatggggtgtc c.*360
. . . . . . g.9020
ggggtgaagggctgtcccagctacttgtcctctgcaggaccctaagcccctgcccgcagc c.*420
. . . . . . g.9080
ccacatgccctctgtgatgagtggcgtctttcctgcctctgatgatggactcaataaaca c.*480
. g.9095
gcactggacaaggct c.*495
(downstream sequence)
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