(used for variant description)
(last modified February 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004817.3 in the TJP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016342.1, covering TJP2 transcript NM_004817.3.
(upstream sequence)
. g.57765
gacgcggttcgccgcagg c.-301
. . . . . . g.57825
agcctcgaaggcgcggcgccggcgagcccttccccggcaggcgcgtgggtggtagcggcc c.-241
. . . . . . g.57885
aatttgacagtttcccgggccgggcggccagcgcggaggcgccacgctcgggtcgggggc c.-181
. . . . . . g.57945
gggctgacgccgccgccgccgcgggaggagggacaaaggggtgggtccccgcgggtcggc c.-121
. . . . . . g.58005
accccggcggttgggctgcgggtcagagcactgtccggtggtgcccaggaggagtaggag c.-61
. . . . . . g.58065
caggagcagaagcagaagcggggtccggagctgcgcgcctacgcgggacctgtgtccgaa c.-1
. . . . . . g.58125
ATGCCGGTGCGAGGAGACCGCGGGTTTCCACCCCGGCGGGAGCTGTCAGGTTGGCTCCGC c.60
M P V R G D R G F P P R R E L S G W L R p.20
| 02 . . . . . | 03 . g.100037
| GCCCCAGGCATGGAAGAGCTGATATGGGAACAGTACACTGTGACCCTACAAAAG | GATTCC c.120
| A P G M E E L I W E Q Y T V T L Q K | D S p.40
. . . . . . g.100097
AAAAGAGGATTTGGAATTGCAGTGTCCGGAGGCAGAGACAACCCCCACTTTGAAAATGGA c.180
K R G F G I A V S G G R D N P H F E N G p.60
. . . . . | 04 g.101950
GAAACGTCAATTGTCATTTCTGATGTGCTCCCGGGTGGGCCTGCTGATGGGCTGCTCCA | A c.240
E T S I V I S D V L P G G P A D G L L Q | p.80
. . . . . . g.102010
GAAAATGACAGAGTGGTCATGGTCAATGGCACCCCCATGGAGGATGTGCTTCATTCGTTT c.300
E N D R V V M V N G T P M E D V L H S F p.100
. . . . | 05 . . g.104597
GCAGTTCAGCAGCTCAGAAAAAGTGGGAAGGTCGCTGCTATT | GTGGTCAAGAGGCCCCGG c.360
A V Q Q L R K S G K V A A I | V V K R P R p.120
. . . . . . g.104657
AAGGTCCAGGTGGCCGCACTTCAGGCCAGCCCTCCCCTGGATCAGGATGACCGGGCTTTT c.420
K V Q V A A L Q A S P P L D Q D D R A F p.140
. . . . . . g.104717
GAGGTGATGGACGAGTTTGATGGCAGAAGTTTCCGGAGTGGCTACAGCGAGAGGAGCCGG c.480
E V M D E F D G R S F R S G Y S E R S R p.160
. . . . . . g.104777
CTGAACAGCCATGGGGGGCGCAGCCGCAGCTGGGAGGACAGCCCGGAAAGGGGGCGTCCC c.540
L N S H G G R S R S W E D S P E R G R P p.180
. . . . . . g.104837
CATGAGCGGGCCCGGAGCCGGGAGCGGGACCTCAGCCGGGACCGGAGCCGTGGCCGGAGC c.600
H E R A R S R E R D L S R D R S R G R S p.200
. . . . . . g.104897
CTGGAGCGGGGCCTGGACCAAGACCATGCGCGCACCCGAGACCGCAGCCGTGGCCGGAGC c.660
L E R G L D Q D H A R T R D R S R G R S p.220
. . . . . . g.104957
CTGGAGCGGGGCCTGGACCACGACTTTGGGCCATCCCGGGACCGGGACCGTGACCGCAGC c.720
L E R G L D H D F G P S R D R D R D R S p.240
. . . . . . g.105017
CGCGGCCGGAGCATTGACCAGGACTACGAGCGAGCCTATCACCGGGCCTACGACCCAGAC c.780
R G R S I D Q D Y E R A Y H R A Y D P D p.260
. . . . . . g.105077
TACGAGCGGGCCTACAGCCCGGAGTACAGGCGCGGGGCCCGCCACGATGCCCGCTCTCGG c.840
Y E R A Y S P E Y R R G A R H D A R S R p.280
. . . . . . g.105137
GGACCCCGAAGCCGCAGCCGCGAGCACCCGCACTCACGGAGCCCCAGCCCCGAGCCTAGG c.900
G P R S R S R E H P H S R S P S P E P R p.300
. . . . . | 06 . g.109004
GGGCGGCCGGGGCCCATCGGGGTCCTCCTGATGAAAAGCAGAGCGAACGAAG | AGTATGGT c.960
G R P G P I G V L L M K S R A N E E | Y G p.320
. . . . . . g.109064
CTCCGGCTTGGGAGTCAGATCTTCGTAAAGGAAATGACCCGAACGGGTCTGGCAACTAAA c.1020
L R L G S Q I F V K E M T R T G L A T K p.340
. . . | 07 . . . g.109738
GATGGCAACCTTCACGAAGGAGACATAATTCTCAAG | ATCAATGGGACTGTAACTGAGAAC c.1080
D G N L H E G D I I L K | I N G T V T E N p.360
. . . . . . g.109798
ATGTCTTTAACGGATGCTCGAAAATTGATAGAAAAGTCAAGAGGAAAACTACAGCTAGTG c.1140
M S L T D A R K L I E K S R G K L Q L V p.380
. . . . . . g.109858
GTGTTGAGAGACAGCCAGCAGACCCTCATCAACATCCCGTCATTAAATGACAGTGACTCA c.1200
V L R D S Q Q T L I N I P S L N D S D S p.400
. | 08 . . . . . g.111507
GAAATAGAAG | ATATTTCAGAAATAGAGTCAAACCGATCATTTTCTCCAGAGGAGAGACGT c.1260
E I E D | I S E I E S N R S F S P E E R R p.420
. . . . . | 09 g.111674
CATCAGTATTCTGATTATGATTATCATTCCTCAAGTGAGAAGCTGAAGGAAAGGCCAAG | T c.1320
H Q Y S D Y D Y H S S S E K L K E R P S | p.440
. . . . . . g.111734
TCCAGAGAGGACACGCCGAGCAGATTGTCCAGGATGGGTGCGACACCCACTCCCTTTAAG c.1380
S R E D T P S R L S R M G A T P T P F K p.460
. . . . . . g.111794
TCCACAGGGGATATTGCAGGCACAGTTGTCCCAGAGACCAACAAGGAACCCAGATACCAA c.1440
S T G D I A G T V V P E T N K E P R Y Q p.480
. | 10 . . . . . g.112923
GAGGACCCCCCAG | CTCCTCAACCAAAAGCAGCCCCGAGAACTTTTCTTCGTCCTAGTCCT c.1500
E D P P A | P Q P K A A P R T F L R P S P p.500
. . | 11 . . . . g.113814
GAAGATGAAGCAATATATGG | CCCTAATACCAAAATGGTAAGGTTCAAGAAGGGAGACAGC c.1560
E D E A I Y G | P N T K M V R F K K G D S p.520
. . . . . . g.113874
GTGGGCCTCCGGTTGGCTGGTGGCAATGATGTCGGGATATTTGTTGCTGGCATTCAAGAA c.1620
V G L R L A G G N D V G I F V A G I Q E p.540
. . . . . | 12 . g.118140
GGGACCTCGGCGGAGCAGGAGGGCCTTCAAGAAGGAGACCAGATTCTGAAG | GTGAACACA c.1680
G T S A E Q E G L Q E G D Q I L K | V N T p.560
. . . . . . g.118200
CAGGATTTCAGAGGATTAGTGCGGGAGGATGCCGTTCTCTACCTGTTAGAAATCCCTAAA c.1740
Q D F R G L V R E D A V L Y L L E I P K p.580
. . . . | 13 . . g.119740
GGTGAAATGGTGACCATTTTAGCTCAGAGCCGAGCCGATG | TGTATAGAGACATCCTGGCT c.1800
G E M V T I L A Q S R A D V | Y R D I L A p.600
. . . . . . g.119800
TGTGGCAGAGGGGATTCGTTTTTTATAAGAAGCCACTTTGAATGTGAGAAGGAAACTCCA c.1860
C G R G D S F F I R S H F E C E K E T P p.620
. . . . . . g.119860
CAGAGCCTGGCCTTCACCAGAGGGGAGGTCTTCCGAGTGGTAGACACACTGTATGACGGC c.1920
Q S L A F T R G E V F R V V D T L Y D G p.640
. . . . . . g.119920
AAGCTGGGCAACTGGCTGGCTGTGAGGATTGGGAACGAGTTGGAGAAAGGCTTAATCCCC c.1980
K L G N W L A V R I G N E L E K G L I P p.660
. | 14 . . . . . g.120690
AACAAGAGCAG | AGCTGAACAAATGGCCAGTGTTCAAAATGCCCAGAGAGACAACGCTGGG c.2040
N K S R | A E Q M A S V Q N A Q R D N A G p.680
. . . . . . g.120750
GACCGGGCAGATTTCTGGAGAATGCGTGGCCAGAGGTCTGGGGTGAAGAAGAACCTGAGG c.2100
D R A D F W R M R G Q R S G V K K N L R p.700
. . . . . . g.120810
AAAAGTCGGGAAGACCTCACAGCTGTTGTGTCTGTCAGCACCAAGTTCCCAGCTTATGAG c.2160
K S R E D L T A V V S V S T K F P A Y E p.720
. | 15 . . . . g.121611
AGGGTTTTGCTGCGAGAAG | CTGGTTTCAAGAGACCTGTGGTCTTATTCGGCCCCATAGCT c.2220
R V L L R E A | G F K R P V V L F G P I A p.740
. . . . . | 16 . g.122407
GATATAGCAATGGAAAAATTGGCTAATGAGTTACCTGACTGGTTTCAAACTGCTA | AAACG c.2280
D I A M E K L A N E L P D W F Q T A K | T p.760
. . . . . . g.122467
GAACCAAAAGATGCAGGATCTGAGAAATCCACTGGAGTGGTCCGGTTAAATACCGTGAGG c.2340
E P K D A G S E K S T G V V R L N T V R p.780
. | 17 . . . . . g.123674
CAAATTATTGAACAG | GATAAGCATGCACTACTGGATGTGACTCCGAAAGCTGTGGACCTG c.2400
Q I I E Q | D K H A L L D V T P K A V D L p.800
. . . . . . g.123734
TTGAATTACACCCAGTGGTTCCCAATTGTGATTTTTTTCAACCCAGACTCCAGACAAGGT c.2460
L N Y T Q W F P I V I F F N P D S R Q G p.820
. . . . . . g.123794
GTCAAAACCATGAGACAAAGGTTAAATCCAACGTCCAACAAAAGTTCTCGAAAGTTATTT c.2520
V K T M R Q R L N P T S N K S S R K L F p.840
. . . . | 18 . . g.130396
GATCAAGCCAACAAGCTTAAAAAAACGTGTGCACACCTTTTTACAG | CTACAATCAACCTA c.2580
D Q A N K L K K T C A H L F T A | T I N L p.860
. . . . . . g.130456
AATTCAGCCAATGATAGCTGGTTTGGCAGCTTAAAGGACACTATTCAGCATCAGCAAGGA c.2640
N S A N D S W F G S L K D T I Q H Q Q G p.880
. . | 19. . . . g.131737
GAAGCGGTTTGGGTCTCTGAAGGAAAG | ATGGAAGGGATGGATGATGACCCCGAAGACCGC c.2700
E A V W V S E G K | M E G M D D D P E D R p.900
. . . . . . g.131797
ATGTCCTACTTAACCGCCATGGGCGCGGACTATCTGAGTTGCGACAGCCGCCTCATCAGT c.2760
M S Y L T A M G A D Y L S C D S R L I S p.920
. . . . . . g.131857
GACTTTGAAGACACGGACGGTGAAGGAGGCGCCTACACTGACAATGAGCTGGATGAGCCA c.2820
D F E D T D G E G G A Y T D N E L D E P p.940
. . . . . . g.131917
GCCGAGGAGCCGCTGGTGTCGTCCATCACCCGCTCCTCGGAGCCGGTGCAGCACGAGGAG c.2880
A E E P L V S S I T R S S E P V Q H E E p.960
| 20 . . . . . . g.133127
| AGCATAAGGAAACCCAGCCCAGAGCCACGAGCTCAGATGAGGAGGGCTGCTAGCAGCGAT c.2940
| S I R K P S P E P R A Q M R R A A S S D p.980
. . . . . | 21 . g.134736
CAACTTAGGGACAATAGCCCGCCCCCAGCATTCAAGCCAGAGCCGCCCAAG | GCCAAAACC c.3000
Q L R D N S P P P A F K P E P P K | A K T p.1000
. . . . . . g.134796
CAGAACAAAGAAGAATCCTATGACTTCTCCAAATCCTATGAATATAAGTCAAACCCCTCT c.3060
Q N K E E S Y D F S K S Y E Y K S N P S p.1020
. . . . . . g.134856
GCCGTTGCTGGTAATGAAACTCCTGGGGCATCTACCAAAGGTTATCCTCCTCCTGTTGCA c.3120
A V A G N E T P G A S T K G Y P P P V A p.1040
. . . . . . g.134916
GCAAAACCTACCTTTGGGCGGTCTATACTGAAGCCCTCCACTCCCATCCCTCCTCAAGAG c.3180
A K P T F G R S I L K P S T P I P P Q E p.1060
. . . . . . g.134976
GGTGAGGAGGTGGGAGAGAGCAGTGAGGAGCAAGATAATGCTCCCAAATCAGTCCTGGGC c.3240
G E E V G E S S E E Q D N A P K S V L G p.1080
. . . . . . g.135036
AAAGTCAAAATATTTGAGAAGATGGATCACAAGGCCAGGTTACAGAGAATGCAGGAGCTC c.3300
K V K I F E K M D H K A R L Q R M Q E L p.1100
. . | 22 . . . . g.136546
CAGGAAGCACAGAATGCAAGG | ATCGAAATTGCCCAGAAGCATCCTGATATCTATGCAGTT c.3360
Q E A Q N A R | I E I A Q K H P D I Y A V p.1120
. . . . | 23. . g.137914
CCAATCAAAACGCACAAGCCAGACCCTGGCACGCCCCAGCACACGAG | TTCCAGACCCCCT c.3420
P I K T H K P D P G T P Q H T S | S R P P p.1140
. . . . . . g.137974
GAGCCACAGAAAGCTCCTTCCAGACCTTATCAGGATACCAGAGGAAGTTATGGCAGTGAT c.3480
E P Q K A P S R P Y Q D T R G S Y G S D p.1160
. . . . . . g.138034
GCCGAGGAGGAGGAGTACCGCCAGCAGCTGTCAGAACACTCCAAGCGCGGTTACTATGGC c.3540
A E E E E Y R Q Q L S E H S K R G Y Y G p.1180
. . . g.138067
CAGTCTGCCCGATACCGGGACACAGAATTATAG c.3573
Q S A R Y R D T E L X p.1190
. . . . . . g.138127
atgtctgagcacggactctcccaggcctgcctgcatggcatcagactagccactcctgcc c.*60
. . . . . . g.138187
aggccgccgggatggttcttctccagttagaatgcaccatggagacgtggtgggactcca c.*120
. . . . . . g.138247
gctcgtgtgtcctcatggagaacccaggggacagctggtgcaaattcagaactgagggct c.*180
. . . . . . g.138307
ctgtttgtgggactgggttagaggagtctgtggctttttgttcagaattaagcagaacac c.*240
. . . . . . g.138367
tgcagtcagatcctgttacttgcttcagtggaccgaaatctgtattctgtttgcgtactt c.*300
. . . . . . g.138427
gtaatatgtatattaagaagcaataactatttttcctcattaatagctgccttcaaggac c.*360
. . . . . . g.138487
tgtttcagtgtgagtcagaatgtgaaaaaggaataaaaaatactgttgggctcaaactaa c.*420
. . . . . . g.138547
attcaaagaagtactttattgcaactcttttaagtgccttggatgagaagtgtcttaaat c.*480
. . . . . . g.138607
tttcttcctttgaagctttaggcagagccataatggactaaaacattttgactaagtttt c.*540
. . . . . . g.138667
tataccagcttaatagctgtagttttccctgcactgtgtcatcttttcaaggcatttgtc c.*600
. . . . . . g.138727
tttgtaatattttccataaatttggactgtctatatcataactatacttgatagtttggc c.*660
. . . . . . g.138787
tataagtgctcaatagcttgaagcccaagaagttggtatcgaaatttgttgtttgtttaa c.*720
. . . . . . g.138847
acccaagtgctgcacaaaagcagatacttgaggaaaacactatttccaaaagcacatgta c.*780
. . . . . g.138901
ttgacaacagttttataatttaataaaaaggaatacattgcaatccgtaatttt c.*834
(downstream sequence)
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