(used for variant description)
(last modified July 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_016562.3 in the TLR7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012569.1, covering TLR7 transcript NM_016562.3.
(upstream sequence)
. g.5019
gaagactccagatatagga c.-121
. . . | 02 . . . g.5436
tcactccatgccatcaagaaag | ttgatgctattgggcccatctcaagctgatcttggcac c.-61
. . . . . . g.5496
ctctcatgctctgctctcttcaaccagacctctacattccattttggaagaagactaaaa c.-1
| 03 . . . . . . g.23486
ATG | GTGTTTCCAATGTGGACACTGAAGAGACAAATTCTTATCCTTTTTAACATAATCCTA c.60
M | V F P M W T L K R Q I L I L F N I I L p.20
. . . . . . g.23546
ATTTCCAAACTCCTTGGGGCTAGATGGTTTCCTAAAACTCTGCCCTGTGATGTCACTCTG c.120
I S K L L G A R W F P K T L P C D V T L p.40
. . . . . . g.23606
GATGTTCCAAAGAACCATGTGATCGTGGACTGCACAGACAAGCATTTGACAGAAATTCCT c.180
D V P K N H V I V D C T D K H L T E I P p.60
. . . . . . g.23666
GGAGGTATTCCCACGAACACCACGAACCTCACCCTCACCATTAACCACATACCAGACATC c.240
G G I P T N T T N L T L T I N H I P D I p.80
. . . . . . g.23726
TCCCCAGCGTCCTTTCACAGACTGGACCATCTGGTAGAGATCGATTTCAGATGCAACTGT c.300
S P A S F H R L D H L V E I D F R C N C p.100
. . . . . . g.23786
GTACCTATTCCACTGGGGTCAAAAAACAACATGTGCATCAAGAGGCTGCAGATTAAACCC c.360
V P I P L G S K N N M C I K R L Q I K P p.120
. . . . . . g.23846
AGAAGCTTTAGTGGACTCACTTATTTAAAATCCCTTTACCTGGATGGAAACCAGCTACTA c.420
R S F S G L T Y L K S L Y L D G N Q L L p.140
. . . . . . g.23906
GAGATACCGCAGGGCCTCCCGCCTAGCTTACAGCTTCTCAGCCTTGAGGCCAACAACATC c.480
E I P Q G L P P S L Q L L S L E A N N I p.160
. . . . . . g.23966
TTTTCCATCAGAAAAGAGAATCTAACAGAACTGGCCAACATAGAAATACTCTACCTGGGC c.540
F S I R K E N L T E L A N I E I L Y L G p.180
. . . . . . g.24026
CAAAACTGTTATTATCGAAATCCTTGTTATGTTTCATATTCAATAGAGAAAGATGCCTTC c.600
Q N C Y Y R N P C Y V S Y S I E K D A F p.200
. . . . . . g.24086
CTAAACTTGACAAAGTTAAAAGTGCTCTCCCTGAAAGATAACAATGTCACAGCCGTCCCT c.660
L N L T K L K V L S L K D N N V T A V P p.220
. . . . . . g.24146
ACTGTTTTGCCATCTACTTTAACAGAACTATATCTCTACAACAACATGATTGCAAAAATC c.720
T V L P S T L T E L Y L Y N N M I A K I p.240
. . . . . . g.24206
CAAGAAGATGATTTTAATAACCTCAACCAATTACAAATTCTTGACCTAAGTGGAAATTGC c.780
Q E D D F N N L N Q L Q I L D L S G N C p.260
. . . . . . g.24266
CCTCGTTGTTATAATGCCCCATTTCCTTGTGCGCCGTGTAAAAATAATTCTCCCCTACAG c.840
P R C Y N A P F P C A P C K N N S P L Q p.280
. . . . . . g.24326
ATCCCTGTAAATGCTTTTGATGCGCTGACAGAATTAAAAGTTTTACGTCTACACAGTAAC c.900
I P V N A F D A L T E L K V L R L H S N p.300
. . . . . . g.24386
TCTCTTCAGCATGTGCCCCCAAGATGGTTTAAGAACATCAACAAACTCCAGGAACTGGAT c.960
S L Q H V P P R W F K N I N K L Q E L D p.320
. . . . . . g.24446
CTGTCCCAAAACTTCTTGGCCAAAGAAATTGGGGATGCTAAATTTCTGCATTTTCTCCCC c.1020
L S Q N F L A K E I G D A K F L H F L P p.340
. . . . . . g.24506
AGCCTCATCCAATTGGATCTGTCTTTCAATTTTGAACTTCAGGTCTATCGTGCATCTATG c.1080
S L I Q L D L S F N F E L Q V Y R A S M p.360
. . . . . . g.24566
AATCTATCACAAGCATTTTCTTCACTGAAAAGCCTGAAAATTCTGCGGATCAGAGGATAT c.1140
N L S Q A F S S L K S L K I L R I R G Y p.380
. . . . . . g.24626
GTCTTTAAAGAGTTGAAAAGCTTTAACCTCTCGCCATTACATAATCTTCAAAATCTTGAA c.1200
V F K E L K S F N L S P L H N L Q N L E p.400
. . . . . . g.24686
GTTCTTGATCTTGGCACTAACTTTATAAAAATTGCTAACCTCAGCATGTTTAAACAATTT c.1260
V L D L G T N F I K I A N L S M F K Q F p.420
. . . . . . g.24746
AAAAGACTGAAAGTCATAGATCTTTCAGTGAATAAAATATCACCTTCAGGAGATTCAAGT c.1320
K R L K V I D L S V N K I S P S G D S S p.440
. . . . . . g.24806
GAAGTTGGCTTCTGCTCAAATGCCAGAACTTCTGTAGAAAGTTATGAACCCCAGGTCCTG c.1380
E V G F C S N A R T S V E S Y E P Q V L p.460
. . . . . . g.24866
GAACAATTACATTATTTCAGATATGATAAGTATGCAAGGAGTTGCAGATTCAAAAACAAA c.1440
E Q L H Y F R Y D K Y A R S C R F K N K p.480
. . . . . . g.24926
GAGGCTTCTTTCATGTCTGTTAATGAAAGCTGCTACAAGTATGGGCAGACCTTGGATCTA c.1500
E A S F M S V N E S C Y K Y G Q T L D L p.500
. . . . . . g.24986
AGTAAAAATAGTATATTTTTTGTCAAGTCCTCTGATTTTCAGCATCTTTCTTTCCTCAAA c.1560
S K N S I F F V K S S D F Q H L S F L K p.520
. . . . . . g.25046
TGCCTGAATCTGTCAGGAAATCTCATTAGCCAAACTCTTAATGGCAGTGAATTCCAACCT c.1620
C L N L S G N L I S Q T L N G S E F Q P p.540
. . . . . . g.25106
TTAGCAGAGCTGAGATATTTGGACTTCTCCAACAACCGGCTTGATTTACTCCATTCAACA c.1680
L A E L R Y L D F S N N R L D L L H S T p.560
. . . . . . g.25166
GCATTTGAAGAGCTTCACAAACTGGAAGTTCTGGATATAAGCAGTAATAGCCATTATTTT c.1740
A F E E L H K L E V L D I S S N S H Y F p.580
. . . . . . g.25226
CAATCAGAAGGAATTACTCATATGCTAAACTTTACCAAGAACCTAAAGGTTCTGCAGAAA c.1800
Q S E G I T H M L N F T K N L K V L Q K p.600
. . . . . . g.25286
CTGATGATGAACGACAATGACATCTCTTCCTCCACCAGCAGGACCATGGAGAGTGAGTCT c.1860
L M M N D N D I S S S T S R T M E S E S p.620
. . . . . . g.25346
CTTAGAACTCTGGAATTCAGAGGAAATCACTTAGATGTTTTATGGAGAGAAGGTGATAAC c.1920
L R T L E F R G N H L D V L W R E G D N p.640
. . . . . . g.25406
AGATACTTACAATTATTCAAGAATCTGCTAAAATTAGAGGAATTAGACATCTCTAAAAAT c.1980
R Y L Q L F K N L L K L E E L D I S K N p.660
. . . . . . g.25466
TCCCTAAGTTTCTTGCCTTCTGGAGTTTTTGATGGTATGCCTCCAAATCTAAAGAATCTC c.2040
S L S F L P S G V F D G M P P N L K N L p.680
. . . . . . g.25526
TCTTTGGCCAAAAATGGGCTCAAATCTTTCAGTTGGAAGAAACTCCAGTGTCTAAAGAAC c.2100
S L A K N G L K S F S W K K L Q C L K N p.700
. . . . . . g.25586
CTGGAAACTTTGGACCTCAGCCACAACCAACTGACCACTGTCCCTGAGAGATTATCCAAC c.2160
L E T L D L S H N Q L T T V P E R L S N p.720
. . . . . . g.25646
TGTTCCAGAAGCCTCAAGAATCTGATTCTTAAGAATAATCAAATCAGGAGTCTGACGAAG c.2220
C S R S L K N L I L K N N Q I R S L T K p.740
. . . . . . g.25706
TATTTTCTACAAGATGCCTTCCAGTTGCGATATCTGGATCTCAGCTCAAATAAAATCCAG c.2280
Y F L Q D A F Q L R Y L D L S S N K I Q p.760
. . . . . . g.25766
ATGATCCAAAAGACCAGCTTCCCAGAAAATGTCCTCAACAATCTGAAGATGTTGCTTTTG c.2340
M I Q K T S F P E N V L N N L K M L L L p.780
. . . . . . g.25826
CATCATAATCGGTTTCTGTGCACCTGTGATGCTGTGTGGTTTGTCTGGTGGGTTAACCAT c.2400
H H N R F L C T C D A V W F V W W V N H p.800
. . . . . . g.25886
ACGGAGGTGACTATTCCTTACCTGGCCACAGATGTGACTTGTGTGGGGCCAGGAGCACAC c.2460
T E V T I P Y L A T D V T C V G P G A H p.820
. . . . . . g.25946
AAGGGCCAAAGTGTGATCTCCCTGGATCTGTACACCTGTGAGTTAGATCTGACTAACCTG c.2520
K G Q S V I S L D L Y T C E L D L T N L p.840
. . . . . . g.26006
ATTCTGTTCTCACTTTCCATATCTGTATCTCTCTTTCTCATGGTGATGATGACAGCAAGT c.2580
I L F S L S I S V S L F L M V M M T A S p.860
. . . . . . g.26066
CACCTCTATTTCTGGGATGTGTGGTATATTTACCATTTCTGTAAGGCCAAGATAAAGGGG c.2640
H L Y F W D V W Y I Y H F C K A K I K G p.880
. . . . . . g.26126
TATCAGCGTCTAATATCACCAGACTGTTGCTATGATGCTTTTATTGTGTATGACACTAAA c.2700
Y Q R L I S P D C C Y D A F I V Y D T K p.900
. . . . . . g.26186
GACCCAGCTGTGACCGAGTGGGTTTTGGCTGAGCTGGTGGCCAAACTGGAAGACCCAAGA c.2760
D P A V T E W V L A E L V A K L E D P R p.920
. . . . . . g.26246
GAGAAACATTTTAATTTATGTCTCGAGGAAAGGGACTGGTTACCAGGGCAGCCAGTTCTG c.2820
E K H F N L C L E E R D W L P G Q P V L p.940
. . . . . . g.26306
GAAAACCTTTCCCAGAGCATACAGCTTAGCAAAAAGACAGTGTTTGTGATGACAGACAAG c.2880
E N L S Q S I Q L S K K T V F V M T D K p.960
. . . . . . g.26366
TATGCAAAGACTGAAAATTTTAAGATAGCATTTTACTTGTCCCATCAGAGGCTCATGGAT c.2940
Y A K T E N F K I A F Y L S H Q R L M D p.980
. . . . . . g.26426
GAAAAAGTTGATGTGATTATCTTGATATTTCTTGAGAAGCCCTTTCAGAAGTCCAAGTTC c.3000
E K V D V I I L I F L E K P F Q K S K F p.1000
. . . . . . g.26486
CTCCAGCTCCGGAAAAGGCTCTGTGGGAGTTCTGTCCTTGAGTGGCCAACAAACCCGCAA c.3060
L Q L R K R L C G S S V L E W P T N P Q p.1020
. . . . . . g.26546
GCTCACCCATACTTCTGGCAGTGTCTAAAGAACGCCCTGGCCACAGACAATCATGTGGCC c.3120
A H P Y F W Q C L K N A L A T D N H V A p.1040
. . . g.26576
TATAGTCAGGTGTTCAAGGAAACGGTCTAG c.3150
Y S Q V F K E T V X p.1049
. . . . . . g.26636
cccttctttgcaaaacacaactgcctagtttaccaaggagaggcctggctgtttaaattg c.*60
. . . . . . g.26696
ttttcatatatatcacaccaaaagcgtgttttgaaattcttcaagaaatgagattgccca c.*120
. . . . . . g.26756
tatttcaggggagccaccaacgtctgtcacaggagttggaaagatggggtttatataatg c.*180
. . . . . . g.26816
catcaagtcttctttcttatctctctgtgtctctatttgcacttgagtctctcacctcag c.*240
. . . . . . g.26876
ctcctgtaaaagagtggcaagtaaaaaacatggggctctgattctcctgtaattgtgata c.*300
. . . . . . g.26936
attaaatatacacacaatcatgacattgagaagaactgcatttctacccttaaaaagtac c.*360
. . . . . . g.26996
tggtatatacagaaatagggttaaaaaaaactcaagctctctctatatgagaccaaaatg c.*420
. . . . . . g.27056
tactagagttagtttagtgaaataaaaaaccagtcagctggccgggcatggtggctcatg c.*480
. . . . . . g.27116
cttgtaatcccagcactttgggaggccgaggcaggtggatcacgaggtcaggagtttgag c.*540
. . . . . . g.27176
accagtctggccaacatggtgaaaccccgtctgtactaaaaatacaaaaattagctgggc c.*600
. . . . . . g.27236
gtggtggtgggtgcctgtaatcccagctacttgggaggctgaggcaggagaatcgcttga c.*660
. . . . . . g.27296
acccgggaggtggaggtggcagtgagccgagatcacgccactgcaatgcagcccgggcaa c.*720
. . . . . . g.27356
cagagctagactgtctcaaaagaacaaaaaaaaaaaaacacaaaaaaactcagtcagctt c.*780
. . . . . . g.27416
cttaaccaattgcttccgtgtcatccagggccccattctgtgcagattgagtgtgggcac c.*840
. . . . . . g.27476
cacacaggtggttgctgcttcagtgcttcctgctctttttccttgggcctgcttctgggt c.*900
. . . . . . g.27536
tccatagggaaacagtaagaaagaaagacacatccttaccataaatgcatatggtccacc c.*960
. . . . . . g.27596
tacaaatagaaaaatatttaaatgatctgcctttatacaaagtgatattctctacctttg c.*1020
. . . . . . g.27656
ataatttacctgcttaaatgtttttatctgcactgcaaagtactgtatccaaagtaaaat c.*1080
. . . . . . g.27716
ttcctcatccaatatctttcaaactgttttgttaactaatgccatatatttgtaagtatc c.*1140
. . . . . . g.27776
tgcacacttgatacagcaacgttagatggttttgatggtaaaccctaaaggaggactcca c.*1200
. . . . . . g.27836
agagtgtgtatttatttatagttttatcagagatgacaattatttgaatgccaattatat c.*1260
. . . . . . g.27896
ggattcctttcattttttgctggaggatgggagaagaaaccaaagtttatagaccttcac c.*1320
. . . . . . g.27956
attgagaaagcttcagttttgaacttcagctatcagattcaaaaacaacagaaagaacca c.*1380
. . . . . . g.28016
agacattcttaagatgcctgtactttcagctgggtataaattcatgagttcaaagattga c.*1440
. . . . . . g.28076
aacctgaccaatttgctttatttcatggaagaagtgatctacaaaggtgtttgtgccatt c.*1500
. . . . . . g.28136
tggaaaacagcgtgcatgtgttcaagccttagattggcgatgtcgtattttcctcacgtg c.*1560
. . . . . . g.28196
tggcaatgccaaaggctttactttacctgtgagtacacactatatgaattatttccaacg c.*1620
. . . . . . g.28256
tacatttaatcaataagggtcacaaattcccaaatcaatctctggaataaatagagaggt c.*1680
. . g.28279
aattaaattgctggagccaacta c.*1703
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 24
©2004-2020 Leiden University Medical Center