(used for variant description)
(last modified October 13, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001195684.1 in the TGFBR3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027757.1, covering TGFBR3 transcript NM_001195684.1.
(upstream sequence)
. . . . . g.5051
tctttaagatttgtagctactaagaaagaaaggagctttttttccttgggc c.-301
. . . . . . g.5111
cttcaaactgaaagaaccgcatgagcctgaagctgcgcatggtcttaacatcaggctgtg c.-241
. . . . . . g.5171
caggaagaagctatctgcagatggatgccagcacacacaaggaagcagagctctggcaac c.-181
. | 02 . . . . . g.11359
attgag | tcaaagcaaggacacaacatcagagggacggcagagaatccttgtgtgtagatc c.-121
. | 03 . . . . . g.49411
tttggtg | gcagtttgaaaattgcaaggagggactttaagactacttctgatttgcaaaga c.-61
. . . . . . g.49471
ttgtctgtgctctgagcaggctgaagtgactggacgagacgcactgttggagaaataaaa c.-1
. . . . . . g.49531
ATGACTTCCCATTATGTGATTGCCATCTTTGCCCTGATGAGCTCCTGTTTAGCCACTGCA c.60
M T S H Y V I A I F A L M S S C L A T A p.20
| 04 . . . . . . g.113590
G | GTCCAGAGCCTGGTGCACTGTGTGAACTGTCACCTGTCAGTGCCTCCCATCCTGTCCAG c.120
G | P E P G A L C E L S P V S A S H P V Q p.40
. . . . . . g.113650
GCCTTGATGGAGAGCTTCACTGTTTTGTCAGGCTGTGCCAGCAGAGGCACAACTGGGCTG c.180
A L M E S F T V L S G C A S R G T T G L p.60
. . . . . . g.113710
CCACAGGAGGTGCATGTCCTGAATCTCCGCACTGCAGGCCAGGGGCCTGGCCAGCTACAG c.240
P Q E V H V L N L R T A G Q G P G Q L Q p.80
| 05 . . . . . . g.152306
AGAGAG | GTCACACTTCACCTGAATCCCATCTCCTCAGTCCACATCCACCACAAGTCTGTT c.300
R E | V T L H L N P I S S V H I H H K S V p.100
. . . . . . g.152366
GTGTTCCTGCTCAACTCCCCACACCCCCTGGTGTGGCATCTGAAGACAGAGAGACTTGCC c.360
V F L L N S P H P L V W H L K T E R L A p.120
. . | 06 . . . . g.176079
ACTGGGGTCTCCAGACTGTTTTTG | GTGTCTGAGGGTTCTGTGGTCCAGTTTTCATCAGCA c.420
T G V S R L F L | V S E G S V V Q F S S A p.140
. . . . . . g.176139
AACTTCTCCTTGACAGCAGAAACAGAAGAAAGGAACTTCCCCCATGGAAATGAACATCTG c.480
N F S L T A E T E E R N F P H G N E H L p.160
. . . . . . g.176199
TTAAATTGGGCCCGAAAAGAGTATGGAGCAGTTACTTCATTCACCGAACTCAAGATAGCA c.540
L N W A R K E Y G A V T S F T E L K I A p.180
. . | 07 . . . g.181061
AGAAACATTTATATTAAAGTGGGGGAAG | ATCAAGTGTTCCCTCCAAAGTGCAACATAGGG c.600
R N I Y I K V G E D | Q V F P P K C N I G p.200
. . . . . . g.181121
AAGAATTTTCTCTCACTCAATTACCTTGCTGAGTACCTTCAACCCAAAGCAGCAGAAGGG c.660
K N F L S L N Y L A E Y L Q P K A A E G p.220
. . . . . . g.181181
TGTGTGATGTCCAGCCAGCCCCAGAATGAGGAAGTACACATCATCGAGCTAATCACCCCC c.720
C V M S S Q P Q N E E V H I I E L I T P p.240
. | 08. . . . . g.183239
AACTCTAACCCCTACAG | TGCTTTCCAGGTGGATATAACAATTGATATAAGACCTTCTCAA c.780
N S N P Y S | A F Q V D I T I D I R P S Q p.260
. . . . . . g.183299
GAGGATCTTGAAGTGGTCAAAAATCTCATCCTGATCTTGAAGTGCAAAAAGTCTGTCAAC c.840
E D L E V V K N L I L I L K C K K S V N p.280
. . . . | 09 . . g.188873
TGGGTGATCAAATCTTTTGATGTTAAGGGAAGCCTGAAAATTATT | GCTCCTAACAGTATT c.900
W V I K S F D V K G S L K I I | A P N S I p.300
. . . . . . g.188933
GGCTTTGGAAAAGAGAGTGAAAGATCTATGACAATGACCAAATCAATAAGAGATGACATT c.960
G F G K E S E R S M T M T K S I R D D I p.320
. . . . . . g.188993
CCTTCAACCCAAGGGAATCTGGTGAAGTGGGCTTTGGACAATGGCTATAGTCCAATAACT c.1020
P S T Q G N L V K W A L D N G Y S P I T p.340
. . . . . | 10 . g.190780
TCATACACAATGGCTCCTGTGGCTAATAGATTTCATCTTCGGCTTGAAAATAATG | AGGAG c.1080
S Y T M A P V A N R F H L R L E N N E | E p.360
. . . . . . g.190840
ATGGGAGATGAGGAAGTCCACACTATTCCTCCTGAGCTACGGATCCTGCTGGACCCTGGT c.1140
M G D E E V H T I P P E L R I L L D P G p.380
. . . . . . g.190900
GCCCTGCCTGCCCTGCAGAACCCGCCCATCCGGGGAGGGGAAGGCCAAAATGGAGGCCTT c.1200
A L P A L Q N P P I R G G E G Q N G G L p.400
. . . . . . g.190960
CCGTTTCCTTTCCCAGATATTTCCAGGAGAGTCTGGAATGAAGAGGGAGAAGATGGGCTC c.1260
P F P F P D I S R R V W N E E G E D G L p.420
. . . . . . g.191020
CCTCGGCCAAAGGACCCTGTCATTCCCAGCATACAACTGTTTCCTGGTCTCAGAGAGCCA c.1320
P R P K D P V I P S I Q L F P G L R E P p.440
. . . . . . g.191080
GAAGAGGTGCAAGGGAGCGTGGATATTGCCCTGTCTGTCAAATGTGACAATGAGAAGATG c.1380
E E V Q G S V D I A L S V K C D N E K M p.460
. . . | 11 . . . g.191568
ATCGTGGCTGTAGAAAAAGATTCTTTTCAG | GCCAGTGGCTACTCGGGGATGGACGTCACC c.1440
I V A V E K D S F Q | A S G Y S G M D V T p.480
. . . . . . g.191628
CTGTTGGATCCTACCTGCAAGGCCAAGATGAATGGCACACACTTTGTTTTGGAGTCTCCT c.1500
L L D P T C K A K M N G T H F V L E S P p.500
. . . . . . g.191688
CTGAATGGCTGCGGTACTCGGCCCCGGTGGTCAGCCCTTGATGGTGTGGTCTACTATAAC c.1560
L N G C G T R P R W S A L D G V V Y Y N p.520
| 12 . . . . . . g.194351
TCC | ATTGTGATACAGGTTCCAGCCCTTGGGGACAGTAGTGGTTGGCCAGATGGTTATGAA c.1620
S | I V I Q V P A L G D S S G W P D G Y E p.540
. . . . . . g.194411
GATCTGGAGTCAGGTGATAATGGATTTCCGGGAGATATGGATGAAGGAGATGCTTCCCTG c.1680
D L E S G D N G F P G D M D E G D A S L p.560
. . | 13 . . . . g.194644
TTCACCCGACCTGAAATCGTGGTG | TTTAATTGCAGCCTTCAGCAGGTGAGGAACCCCAGC c.1740
F T R P E I V V | F N C S L Q Q V R N P S p.580
. . . . . . g.194704
AGCTTCCAGGAACAGCCCCACGGAAACATCACCTTCAACATGGAGCTATACAACACTGAC c.1800
S F Q E Q P H G N I T F N M E L Y N T D p.600
. . . . . . g.194764
CTCTTTTTGGTGCCCTCCCAGGGCGTCTTCTCTGTGCCAGAGAATGGACACGTTTATGTT c.1860
L F L V P S Q G V F S V P E N G H V Y V p.620
| 14 . . . . . . g.198517
GAG | GTATCTGTTACTAAGGCTGAACAAGAACTGGGATTTGCCATCCAAACGTGCTTTATC c.1920
E | V S V T K A E Q E L G F A I Q T C F I p.640
. . . . . . g.198577
TCTCCATATTCGAACCCTGATAGGATGTCTCATTACACCATTATTGAGAATATTTGTCCT c.1980
S P Y S N P D R M S H Y T I I E N I C P p.660
. . . . . . g.198637
AAAGATGAATCTGTGAAATTCTACAGTCCCAAGAGAGTGCACTTTCCTATCCCGCAAGCT c.2040
K D E S V K F Y S P K R V H F P I P Q A p.680
. . . . . . g.198697
GACATGGATAAGAAGCGATTCAGCTTTGTCTTCAAGCCTGTCTTCAACACCTCACTGCTC c.2100
D M D K K R F S F V F K P V F N T S L L p.700
. . . . . . g.198757
TTTCTACAGTGTGAGCTGACGCTGTGTACGAAGATGGAGAAGCACCCCCAGAAGTTGCCT c.2160
F L Q C E L T L C T K M E K H P Q K L P p.720
| 15 . . . . . . g.202276
AAG | TGTGTGCCTCCTGACGAAGCCTGCACCTCGCTGGACGCCTCGATAATCTGGGCCATG c.2220
K | C V P P D E A C T S L D A S I I W A M p.740
. . . . . . g.202336
ATGCAGAATAAGAAGACGTTCACTAAGCCCCTTGCTGTGATCCACCATGAAGCAGAATCT c.2280
M Q N K K T F T K P L A V I H H E A E S p.760
| 16 . . . . | 17 . . g.215237
AAAG | AAAAAGGTCCAAGCATGAAGGAACCAAATCCAATTTCTCCAC | CAATTTTCCATGGT c.2340
K E | K G P S M K E P N P I S P P | I F H G p.780
. . . . . . g.215297
CTGGACACCCTAACCGTGATGGGCATTGCGTTTGCAGCCTTTGTGATCGGAGCACTCCTG c.2400
L D T L T V M G I A F A A F V I G A L L p.800
. . . | 18 . . . g.227171
ACGGGGGCCTTGTGGTACATCTATTCTCACACAG | GGGAGACAGCAGGAAGGCAGCAAGTC c.2460
T G A L W Y I Y S H T G | E T A G R Q Q V p.820
. . . . . . g.227231
CCCACCTCCCCGCCAGCCTCGGAAAACAGCAGTGCTGCCCACAGCATCGGCAGCACGCAG c.2520
P T S P P A S E N S S A A H S I G S T Q p.840
. . . g.227264
AGCACGCCTTGCTCCAGCAGCAGCACGGCCTAG c.2553
S T P C S S S S T A X p.850
. . . . . . g.227324
cccaacccagcccaacccggcccaacccagcccagcccagctcagctcagctactgccaa c.*60
. . . . . . g.227384
gggcaggaccaatggctgagcctcgtgtccagactcagagggctggattttggttccctt c.*120
. . . . . . g.227444
gtaaagacagagtgaatttcagtataaagatcacccgttgtattcaccccacacccaggg c.*180
. . . . . . g.227504
ctagtataaacatgaccctgggcttctgtaccacactagaattcatgtgagaaagctaaa c.*240
. . . . . . g.227564
atggtggtcttctccaccagcccctcacaggcttgggggttttcaatgtgaaacacatgc c.*300
. . . . . . g.227624
cagtttttaaaatgctgctttgtccaggtgagaacatccataatttggggccctgagttt c.*360
. . . . . . g.227684
tacccagactcaaggagttggtaaagggttaatagccagatagtagaaccagtgaggaga c.*420
. . . . . . g.227744
tgcggccaaagattctttatatctgaaccaagatgtaaaacaagaaatgctttgaggctt c.*480
. . . . . . g.227804
tctaagcgatcctcctgtctaatttgcacctttgtctggatgcacacttctgaccttgct c.*540
. . . . . . g.227864
gccacaacctgtggggtctgatgtgtcccttgatgggtgctgccctcagggactgcaccc c.*600
. . . . . . g.227924
tgacaagtgttaaggcaacattcctttcttgtgccctgggccaaaaccaatgctgatgac c.*660
. . . . . . g.227984
cttatcagcttcctgtttcttcccatacttgcatacaccactgcaaaatgtcttaatgca c.*720
. . . . . . g.228044
aattttgtatttcttacaggcctacagaaattgaaaatgaccaaaatcaggaaccacaga c.*780
. . . . . . g.228104
tttgtgcccattcctaatattttgttctgcaaattaatgtataatttgaggtgaaattca c.*840
. . . . . . g.228164
gttataaagtcaaggacgaatttgcacagtgatatatttctatgtgtatgcaagtacaag c.*900
. . . . . . g.228224
tatataatatgtcacctggcacattcattttctcagttgaagaagagaaaatttgaaaat c.*960
. . . . . . g.228284
gtccttatgcttttagagttgcaacttaagtatatttggtagggtgagtgtttccactca c.*1020
. . . . . . g.228344
aaatatgtcaacttaaaaaaaaataggccctttcataaaaaccaaactgtagcaagatgc c.*1080
. . . . . . g.228404
aaatgcatggcaaatcctgtcggtctccagttggttatctgaatagtgtcaccaattcca c.*1140
. . . . . . g.228464
ccaagacagtgctgagattggaaaagggcactcatttggattgccttacttctcttgcct c.*1200
. . . . . . g.228524
taaatatatcccatatatttaatatgtcaaaaagggcttgaggtgaatttcattaaatgg c.*1260
. . . . . . g.228584
aataatatgatgccactttgcagctaaaataagctcagtgatacctccttgttaaaaaaa c.*1320
. . . . . . g.228644
aaaaaaaaaaaaaagaatgccaggggggaattatcatgctaaattattttactgctgaag c.*1380
. . . . . . g.228704
atagcttcattgcaaattattctttttccagaatttcccccaaacaacttagaattccat c.*1440
. . . . . . g.228764
aagtagaacaagatagattctacccccaaaatattcataagcaaatcccactgcccttaa c.*1500
. . . . . . g.228824
aataaggaagttatgcctggttgtctgtgaatggaacctcagtaggtaatcctgatgaag c.*1560
. . . . . . g.228884
cttaaaaccttagggcagtgtctacatgggaaacaagtatgtggaaattgacaatcattt c.*1620
. . . . . . g.228944
ttaccaaatcgttgagtaataatatgacttacctgatagatatacacattcaataaggaa c.*1680
. . . . . . g.229004
catttttttttttcaataaggaacattttaactaaaacattactttagggctgagatttc c.*1740
. . . . . . g.229064
caggctatctacattgatctactgaaaaatttctagatttccatatacaaacgaagaaga c.*1800
. . . . . . g.229124
catgagtttagagaatttttttcctttaatttttttttaacagaagggtatcagagtgga c.*1860
. . . . . . g.229184
ggacctagattacgctacctgtgtttgaaaatattgcgctttgcctaaccttcggtggaa c.*1920
. . . . . . g.229244
tgtattgtttcagcatattctatgtataaaaaagtttaaagatgtcttcaaagaagacta c.*1980
. . . . . . g.229304
gagtctttaagtcacttatagctatattttactacaaaatttgtgtataaagatatattt c.*2040
. . . . . . g.229364
aagtgttttagataaatttaagttactccatatgaaatgtttaatttcagctactgtgaa c.*2100
. . . . . . g.229424
ttctttcgatcagtcctttgcttttttaaaaaatcttttccatcgtgttaaaaagaaaat c.*2160
. . . . . . g.229484
tagctattaggagatattaaaagattgatgtcttagaaggacagggttaaaaccttctgt c.*2220
. . . . . . g.229544
aatatatttaaatatatatttttaagagagatgctacattgccaatgattttataaataa c.*2280
. . . . . . g.229604
tttaaaattaatttacaaatttatagatgcaaaccaaaagatctttttaaaagagagaga c.*2340
. . . . . . g.229664
gaggaaaaaaatcaccttttatttgtttgggtctcattgtcagaattattattcagatca c.*2400
. . . . . . g.229724
agaaatctgtgtcgataaaacctaatctcatattggagagtgaatgtcgttaagtatttc c.*2460
. . . . . . g.229784
tgaaatgtttctaaaaaatgaacatgaaaaaaataaggtattttctccctagcttctcat c.*2520
. . . . . . g.229844
tacagtatttctaattgcttcacactttacagttttaatacaaagtacaagctctacttt c.*2580
. . . . . . g.229904
tataacgtgtactacaagtttctttaaaagtattgttgtatttcagctgaactcttgtat c.*2640
. . . . . . g.229964
ctgcagtcttttgttatttctgcaggctacacccttaatttgcagaggccattttgttgt c.*2700
. . . . . . g.230024
ttgtttgatgctgaagctgttgttaaaatgccccaaactccaaggcagattgtctgtata c.*2760
. . . . . . g.230084
atacgctatagcttttcaccatgtggtgtttaccagctgttactctgtattttaaaaagc c.*2820
. . . . . . g.230144
cagagatttcttctgtctaaactgtttctatagcattttctaaacaaaaaaaatggtttt c.*2880
. . . . . . g.230204
tttctttgccttgtaataagattgtaaatccatttcctgcttgtgttcttagtgggcatg c.*2940
. . . . . . g.230264
attgtgagtgtgtgtggggtgctcacacgcgtgccagtctttttgtactgtaactacctc c.*3000
. . . . . . g.230324
atggtttgaatgatgattgtactgctggttgtgttaacagagcacattttgttgggtgag c.*3060
. . . . . . g.230384
tcctatgtgatttttttcatgtttgttttatctgggggttgttcatgaaactgacagatg c.*3120
. . . . . . g.230444
tttttctaaaaaggactattatcagtttccaaatacaatacttctctcttctggtttttc c.*3180
. . . . . . g.230504
ctgaatgagcctgattttgttgctggttttcatcatctatgagggtaaaacgagtaccct c.*3240
. . . . . . g.230564
taaaatccctgtggccagtttgaacacccctgttgtattcttttctctgttcagtgtgtc c.*3300
. . . . . . g.230624
agctattttgtgaagatgcttagatgtatagttttgataaccacagttttaaatctttta c.*3360
. . . g.230660
tctgtgcataataaaaagatatatatcagttattaa c.*3396
(downstream sequence)
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