(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TLR3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering TLR3 transcript NM_003265.2.(upstream sequence) . . . . g.1041 cactttcgagagtgccgtctatttgccacacacttccctga c.-61 . . . . . . | 02 g.8465 tgaaatgtctggatttggactaaagaaaaaaggaaaggctagcagtcatccaa | cagaatc c.-1 . . . . . . g.8525 ATGAGACAGACTTTGCCTTGTATCTACTTTTGGGGGGGCCTTTTGCCCTTTGGGATGCTG c.60 M R Q T L P C I Y F W G G L L P F G M L p.20 . . . . . . g.8585 TGTGCATCCTCCACCACCAAGTGCACTGTTAGCCATGAAGTTGCTGACTGCAGCCACCTG c.120 C A S S T T K C T V S H E V A D C S H L p.40 . . . . . . g.8645 AAGTTGACTCAGGTACCCGATGATCTACCCACAAACATAACAGTGTTGAACCTTACCCAT c.180 K L T Q V P D D L P T N I T V L N L T H p.60 . . . . . . g.8705 AATCAACTCAGAAGATTACCAGCCGCCAACTTCACAAGGTATAGCCAGCTAACTAGCTTG c.240 N Q L R R L P A A N F T R Y S Q L T S L p.80 . . . . . . g.8765 GATGTAGGATTTAACACCATCTCAAAACTGGAGCCAGAATTGTGCCAGAAACTTCCCATG c.300 D V G F N T I S K L E P E L C Q K L P M p.100 . . . . . . g.8825 TTAAAAGTTTTGAACCTCCAGCACAATGAGCTATCTCAACTTTCTGATAAAACCTTTGCC c.360 L K V L N L Q H N E L S Q L S D K T F A p.120 . . . . . . g.8885 TTCTGCACGAATTTGACTGAACTCCATCTCATGTCCAACTCAATCCAGAAAATTAAAAAT c.420 F C T N L T E L H L M S N S I Q K I K N p.140 . . | 03 . . . . g.10724 AATCCCTTTGTCAAGCAGAAG | AATTTAATCACATTAGATCTGTCTCATAATGGCTTGTCA c.480 N P F V K Q K | N L I T L D L S H N G L S p.160 . . . . . . g.10784 TCTACAAAATTAGGAACTCAGGTTCAGCTGGAAAATCTCCAAGAGCTTCTATTATCAAAC c.540 S T K L G T Q V Q L E N L Q E L L L S N p.180 . . . . . . g.10844 AATAAAATTCAAGCGCTAAAAAGTGAAGAACTGGATATCTTTGCCAATTCATCTTTAAAA c.600 N K I Q A L K S E E L D I F A N S S L K p.200 . . . | 04 . . . g.14192 AAATTAGAGTTGTCATCGAATCAAATTAAAGAG | TTTTCTCCAGGGTGTTTTCACGCAATT c.660 K L E L S S N Q I K E | F S P G C F H A I p.220 . . . . . . g.14252 GGAAGATTATTTGGCCTCTTTCTGAACAATGTCCAGCTGGGTCCCAGCCTTACAGAGAAG c.720 G R L F G L F L N N V Q L G P S L T E K p.240 . . . . . . g.14312 CTATGTTTGGAATTAGCAAACACAAGCATTCGGAATCTGTCTCTGAGTAACAGCCAGCTG c.780 L C L E L A N T S I R N L S L S N S Q L p.260 . . . . . . g.14372 TCCACCACCAGCAATACAACTTTCTTGGGACTAAAGTGGACAAATCTCACTATGCTCGAT c.840 S T T S N T T F L G L K W T N L T M L D p.280 . . . . . . g.14432 CTTTCCTACAACAACTTAAATGTGGTTGGTAACGATTCCTTTGCTTGGCTTCCACAACTA c.900 L S Y N N L N V V G N D S F A W L P Q L p.300 . . . . . . g.14492 GAATATTTCTTCCTAGAGTATAATAATATACAGCATTTGTTTTCTCACTCTTTGCACGGG c.960 E Y F F L E Y N N I Q H L F S H S L H G p.320 . . . . . . g.14552 CTTTTCAATGTGAGGTACCTGAATTTGAAACGGTCTTTTACTAAACAAAGTATTTCCCTT c.1020 L F N V R Y L N L K R S F T K Q S I S L p.340 . . . . . . g.14612 GCCTCACTCCCCAAGATTGATGATTTTTCTTTTCAGTGGCTAAAATGTTTGGAGCACCTT c.1080 A S L P K I D D F S F Q W L K C L E H L p.360 . . . . . . g.14672 AACATGGAAGATAATGATATTCCAGGCATAAAAAGCAATATGTTCACAGGATTGATAAAC c.1140 N M E D N D I P G I K S N M F T G L I N p.380 . . . . . . g.14732 CTGAAATACTTAAGTCTATCCAACTCCTTTACAAGTTTGCGAACTTTGACAAATGAAACA c.1200 L K Y L S L S N S F T S L R T L T N E T p.400 . . . . . . g.14792 TTTGTATCACTTGCTCATTCTCCCTTACACATACTCAACCTAACCAAGAATAAAATCTCA c.1260 F V S L A H S P L H I L N L T K N K I S p.420 . . . . . . g.14852 AAAATAGAGAGTGATGCTTTCTCTTGGTTGGGCCACCTAGAAGTACTTGACCTGGGCCTT c.1320 K I E S D A F S W L G H L E V L D L G L p.440 . . . . . . g.14912 AATGAAATTGGGCAAGAACTCACAGGCCAGGAATGGAGAGGTCTAGAAAATATTTTCGAA c.1380 N E I G Q E L T G Q E W R G L E N I F E p.460 . . . . . . g.14972 ATCTATCTTTCCTACAACAAGTACCTGCAGCTGACTAGGAACTCCTTTGCCTTGGTCCCA c.1440 I Y L S Y N K Y L Q L T R N S F A L V P p.480 . . . . . . g.15032 AGCCTTCAACGACTGATGCTCCGAAGGGTGGCCCTTAAAAATGTGGATAGCTCTCCTTCA c.1500 S L Q R L M L R R V A L K N V D S S P S p.500 . . . . . . g.15092 CCATTCCAGCCTCTTCGTAACTTGACCATTCTGGATCTAAGCAACAACAACATAGCCAAC c.1560 P F Q P L R N L T I L D L S N N N I A N p.520 . . . . . . g.15152 ATAAATGATGACATGTTGGAGGGTCTTGAGAAACTAGAAATTCTCGATTTGCAGCATAAC c.1620 I N D D M L E G L E K L E I L D L Q H N p.540 . . . . . . g.15212 AACTTAGCACGGCTCTGGAAACACGCAAACCCTGGTGGTCCCATTTATTTCCTAAAGGGT c.1680 N L A R L W K H A N P G G P I Y F L K G p.560 . . . . . . g.15272 CTGTCTCACCTCCACATCCTTAACTTGGAGTCCAACGGCTTTGACGAGATCCCAGTTGAG c.1740 L S H L H I L N L E S N G F D E I P V E p.580 . . . . . . g.15332 GTCTTCAAGGATTTATTTGAACTAAAGATCATCGATTTAGGATTGAATAATTTAAACACA c.1800 V F K D L F E L K I I D L G L N N L N T p.600 . . . . . . g.15392 CTTCCAGCATCTGTCTTTAATAATCAGGTGTCTCTAAAGTCATTGAACCTTCAGAAGAAT c.1860 L P A S V F N N Q V S L K S L N L Q K N p.620 . . . . . . g.15452 CTCATAACATCCGTTGAGAAGAAGGTTTTCGGGCCAGCTTTCAGGAACCTGACTGAGTTA c.1920 L I T S V E K K V F G P A F R N L T E L p.640 . . . . . . g.15512 GATATGCGCTTTAATCCCTTTGATTGCACGTGTGAAAGTATTGCCTGGTTTGTTAATTGG c.1980 D M R F N P F D C T C E S I A W F V N W p.660 . . . . . . g.15572 ATTAACGAGACCCATACCAACATCCCTGAGCTGTCAAGCCACTACCTTTGCAACACTCCA c.2040 I N E T H T N I P E L S S H Y L C N T P p.680 . . . . . . g.15632 CCTCACTATCATGGGTTCCCAGTGAGACTTTTTGATACATCATCTTGCAAAGACAGTGCC c.2100 P H Y H G F P V R L F D T S S C K D S A p.700 . . . . . . g.15692 CCCTTTGAACTCTTTTTCATGATCAATACCAGTATCCTGTTGATTTTTATCTTTATTGTA c.2160 P F E L F F M I N T S I L L I F I F I V p.720 . . . . . . g.15752 CTTCTCATCCACTTTGAGGGCTGGAGGATATCTTTTTATTGGAATGTTTCAGTACATCGA c.2220 L L I H F E G W R I S F Y W N V S V H R p.740 . . . . . . g.15812 GTTCTTGGTTTCAAAGAAATAGACAGACAGACAGAACAGTTTGAATATGCAGCATATATA c.2280 V L G F K E I D R Q T E Q F E Y A A Y I p.760 . . . . . . g.15872 ATTCATGCCTATAAAGATAAGGATTGGGTCTGGGAACATTTCTCTTCAATGGAAAAGGAA c.2340 I H A Y K D K D W V W E H F S S M E K E p.780 . . . . . . g.15932 GACCAATCTCTCAAATTTTGTCTGGAAGAAAGGGACTTTGAGGCGGGTGTTTTTGAACTA c.2400 D Q S L K F C L E E R D F E A G V F E L p.800 . . . . . . g.15992 GAAGCAATTGTTAACAGCATCAAAAGAAGCAGAAAAATTATTTTTGTTATAACACACCAT c.2460 E A I V N S I K R S R K I I F V I T H H p.820 . . | 05 . . . . g.16524 CTATTAAAAGACCCATTATGCAAAAG | ATTCAAGGTACATCATGCAGTTCAACAAGCTATT c.2520 L L K D P L C K R | F K V H H A V Q Q A I p.840 . . . . . . g.16584 GAACAAAATCTGGATTCCATTATATTGGTTTTCCTTGAGGAGATTCCAGATTATAAACTG c.2580 E Q N L D S I I L V F L E E I P D Y K L p.860 . . . . . . g.16644 AACCATGCACTCTGTTTGCGAAGAGGAATGTTTAAATCTCACTGCATCTTGAACTGGCCA c.2640 N H A L C L R R G M F K S H C I L N W P p.880 . . . . . . g.16704 GTTCAGAAAGAACGGATAGGTGCCTTTCGTCATAAATTGCAAGTAGCACTTGGATCCAAA c.2700 V Q K E R I G A F R H K L Q V A L G S K p.900 . g.16719 AACTCTGTACATTAA c.2715 N S V H X p.904 . . . . . . g.16779 atttatttaaatattcaattagcaaaggagaaactttctcaatttaaaaagttctatggc c.*60 . . . . . . g.16839 aaatttaagttttccataaaggtgttataatttgtttattcatatttgtaaatgattata c.*120 . . . . . . g.16899 ttctatcacaattacatctcttctaggaaaatgtgtctccttatttcaggcctatttttg c.*180 . . . . g.16944 acaattgacttaattttacccaaaataaaacatataagcacgtaa c.*225 (downstream sequence)Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center