(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_020366.3 in the RPGRIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008933.1, covering RPGRIP1 transcript NM_020366.3.(upstream sequence) . . . . . . g.60 ATGTCACATCTGGTGGACCCTACATCAGGAGACTTGCCAGTTAGAGACATAGATGCTATA c.60 M S H L V D P T S G D L P V R D I D A I p.20 . . | 02 . . . . g.6735 CCTCTGGTGCTACCAGCCTCAAAAG | GTAAGAATATGAAAACTCAACCACCCTTGAGCAGG c.120 P L V L P A S K G | K N M K T Q P P L S R p.40 . . . . . . g.6795 ATGAACCGGGAGGAATTGGAGGACAGTTTCTTTCGACTTCGCGAAGATCACATGTTGGTG c.180 M N R E E L E D S F F R L R E D H M L V p.60 . . . | 03 . . g.13011 AAGGAGCTTTCTTGGAAGCAACAGGATGAGATCAAAAG | GCTGAGGACCACCTTGCTGCGG c.240 K E L S W K Q Q D E I K R | L R T T L L R p.80 . . . . . . g.13071 TTGACCGCTGCTGGCCGGGACCTGCGGGTCGCGGAGGAGGCGGCGCCGCTCTCGGAGACC c.300 L T A A G R D L R V A E E A A P L S E T p.100 . . . . . . g.13131 GCAAGGCGCGGGCAGAAGGCGGGATGGCGGCAGCGCCTCTCCATGCACCAGCGCCCCCAG c.360 A R R G Q K A G W R Q R L S M H Q R P Q p.120 . . . . . . g.13191 ATGCACCGACTGCAAGGGCATTTCCACTGCGTCGGCCCTGCCAGCCCCCGCCGCGCCCAG c.420 M H R L Q G H F H C V G P A S P R R A Q p.140 . . . . . . g.13251 CCTCGCGTCCAAGTGGGACACAGACAGCTCCACACAGCCGGTGCACCGGTGCCGGAGAAA c.480 P R V Q V G H R Q L H T A G A P V P E K p.160 . | 04 . . . . . g.14561 CCCAAGAGGG | GGCCAAGGGACAGGCTGAGCTACACAGCCCCTCCATCGTTTAAGGAGCAT c.540 P K R G | P R D R L S Y T A P P S F K E H p.180 . . . . | 05. . g.15367 GCGACAAATGAAAACAGAGGTGAAGTAGCCAGTAAACCCAGTGAACT | TGTTTCTGGTTCT c.600 A T N E N R G E V A S K P S E L | V S G S p.200 . . . . . . g.15427 AACAGCATAATTTCTTTCAGCAGTGTCATAAGTATGGCTAAACCCATTGGTCTATGCATG c.660 N S I I S F S S V I S M A K P I G L C M p.220 . . . . . . g.15487 CCTAACAGTGCCCACATCATGGCCAGCAATACCATGCAAGTGGAAGAGCCACCCAAGTCT c.720 P N S A H I M A S N T M Q V E E P P K S p.240 . . . . . . g.15547 CCTGAGAAAATGTGGCCTAAAGATGAAAATTTTGAACAGAGAAGCTCATTGGAGTGTGCT c.780 P E K M W P K D E N F E Q R S S L E C A p.260 . . | 06 . . . . g.19794 CAGAAGGCTGCAGAGCTTCG | AGCTTCCATTAAAGAGAAGGTAGAGCTGATTCGACTTAAG c.840 Q K A A E L R | A S I K E K V E L I R L K p.280 . . . . . . g.19854 AAGCTCTTACATGAAAGAAATGCTTCATTGGTTATGACAAAAGCACAATTAACAGAAGTT c.900 K L L H E R N A S L V M T K A Q L T E V p.300 | 07 . . . | 08 . . . g.23877 CAAGAG | GCATACGAAACCTTGCTCCAGAAG | AATCAGGGAATCCTGAGTGCAGCCCATGAG c.960 Q E | A Y E T L L Q K | N Q G I L S A A H E p.320 . . . . . . g.23937 GCCCTCCTCAAGCAAGTGAATGAGCTCAGGGCAGAGCTGAAGGAAGAAAGCAAGAAGGCT c.1020 A L L K Q V N E L R A E L K E E S K K A p.340 . . . . . | 09. g.24459 GTGAGCTTGAAGAGCCAACTGGAAGATGTGTCTATCTTGCAGATGACTCTGAAGGAG | TTT c.1080 V S L K S Q L E D V S I L Q M T L K E | F p.360 . . . . . . g.24519 CAGGAGAGAGTTGAAGATTTGGAAAAAGAACGAAAATTGCTGAATGACAATTATGACAAA c.1140 Q E R V E D L E K E R K L L N D N Y D K p.380 . | 10 . . . . . g.29768 CTCTTAGAAAG | CATGCTGGACAGCAGTGACAGCTCCAGTCAGCCCCACTGGAGCAACGAG c.1200 L L E S | M L D S S D S S S Q P H W S N E p.400 . . . . . . g.29828 CTCATAGCGGAACAGCTACAGCAGCAAGTCTCTCAGCTGCAGGATCAGCTGGATGCTGAG c.1260 L I A E Q L Q Q Q V S Q L Q D Q L D A E p.420 . . . . | 11 . . g.32054 CTGGAGGACAAGAGAAAAGTTTTACTTGAGCTGTCCAGGGAGAAAG | CCCAAAATGAGGAT c.1320 L E D K R K V L L E L S R E K A | Q N E D p.440 . . . . . . g.32114 CTGAAGCTTGAAGTCACCAACATACTTCAGAAGCATAAACAGGAAGTAGAGCTCCTCCAA c.1380 L K L E V T N I L Q K H K Q E V E L L Q p.460 . . . . . . g.32174 AATGCAGCCACAATTTCCCAACCTCCTGACAGGCAATCTGAACCAGCCACTCACCCAGCT c.1440 N A A T I S Q P P D R Q S E P A T H P A p.480 . . | 12. . . . g.33315 GTATTGCAAGAGAACACTCAGATCGAG | CCAAGTGAACCCAAAAACCAAGAAGAAAAGAAA c.1500 V L Q E N T Q I E | P S E P K N Q E E K K p.500 . . . . . . g.33375 CTGTCCCAGGTGCTAAATGAGTTGCAAGTATCACACGCAGAGACCACATTGGAACTAGAA c.1560 L S Q V L N E L Q V S H A E T T L E L E p.520 . . . . . | 13 . g.33886 AAGACCAGGGACATGCTTATTCTGCAGCGCAAAATCAACGTGTGTTATCAG | GAGGAACTG c.1620 K T R D M L I L Q R K I N V C Y Q | E E L p.540 . . . . . . g.33946 GAGGCAATGATGACAAAAGCTGACAATGATAATAGAGATCACAAAGAAAAGCTGGAGAGG c.1680 E A M M T K A D N D N R D H K E K L E R p.560 . . . . . . g.34006 TTGACTCGACTACTAGACCTCAAGAATAACCGTATCAAGCAGCTGGAAGGTATTTTAAGA c.1740 L T R L L D L K N N R I K Q L E G I L R p.580 . . | 14 . . . . g.36679 AGCCATGACCTTCCAACATCTG | AACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTG c.1800 S H D L P T S E | Q L K D V A Y G T R P L p.600 . . . . . . g.36739 TCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTG c.1860 S L C L E T L P A H G D E D K V D I S L p.620 . . . . . . g.36799 CTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCC c.1920 L H Q G E N L F E L H I H Q A F L T S A p.640 . . . . . . g.36859 GCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGAC c.1980 A L A Q A G D T Q P T T F C T Y S F Y D p.660 . . . . . . g.36919 TTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCC c.2040 F E T H C T P L S V G P Q P L Y D F T S p.680 . . . . . . g.36979 CAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGG c.2100 Q Y V M E T D S L F L H Y L Q E A S A R p.700 . . . . . . g.37039 CTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGC c.2160 L D I H Q A M A S E H S T L A A G W I C p.720 . . . . . | 15 . g.37260 TTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTG | GAGCT c.2220 F D R V L E T V E K V H G L A T L I G | A p.740 . . . . . . g.37320 GGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCC c.2280 G G E E F G V L E Y W M R L R F P I K P p.760 . . . . . . g.37380 AGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTT c.2340 S L Q A C N K R K K A Q V Y L S T D V L p.780 . . | 16. . . . g.37887 GGAGGCCGGAAGGCCCAGGAAGAGGAG | TTCAGATCGGAGTCTTGGGAACCTCAGAACGAG c.2400 G G R K A Q E E E | F R S E S W E P Q N E p.800 . . . . . . g.37947 CTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCC c.2460 L W I E I T K C C G L R S R W L G T Q P p.820 . . . . . . g.38007 AGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCA c.2520 S P Y A V Y R F F T F S D H D T A I I P p.840 . . . . . . g.38067 GCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGAC c.2580 A S N N P Y F R D Q A R F P V L V T S D p.860 . . . . . . g.38127 CTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTA c.2640 L D H Y L R R E A L S I H V F D D E D L p.880 . . . . . . g.38187 GAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAA c.2700 E P G S Y L G R A R V P L L P L A K N E p.900 . | 17 . . . . . g.39696 TCTATCAAAG | GTGATTTTAACCTCACTGACCCTGCAGAGAAACCCAACGGATCTATTCAA c.2760 S I K G | D F N L T D P A E K P N G S I Q p.920 . . . . . . g.39756 GTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTCCTGAAACCAGAAGCT c.2820 V Q L D W K F P Y I P P E S F L K P E A p.940 . . . . . . g.39816 CAGACTAAGGGGAAGGATACCAAGGACAGTTCAAAGATCTCATCTGAAGAGGAAAAGGCT c.2880 Q T K G K D T K D S S K I S S E E E K A p.960 . | 18 . . . . . g.40492 TCATTTCCTTCCCAG | GATCAGATGGCATCTCCTGAGGTTCCCATTGAAGCTGGCCAGTAT c.2940 S F P S Q | D Q M A S P E V P I E A G Q Y p.980 . . . . . . g.40552 CGATCTAAGAGAAAACCTCCTCATGGGGGAGAAAGAAAGGAGAAGGAGCACCAGGTTGTG c.3000 R S K R K P P H G G E R K E K E H Q V V p.1000 . . . . . . g.40612 AGCTACTCAAGAAGAAAACATGGCAAAAGAATAGGTGTTCAAGGAAAGAATAGAATGGAG c.3060 S Y S R R K H G K R I G V Q G K N R M E p.1020 . . . | 19 . . g.42293 TATCTTAGCCTTAACATCTTAAATGGAAATACACCAGAG | CAGGTGAATTACACTGAGTGG c.3120 Y L S L N I L N G N T P E | Q V N Y T E W p.1040 . . . . . . g.42353 AAGTTCTCAGAGACTAACAGCTTCATAGGTGATGGCTTTAAAAATCAGCACGAGGAAGAG c.3180 K F S E T N S F I G D G F K N Q H E E E p.1060 . . . . . | 20 g.46630 GAAATGACATTATCCCATTCAGCACTGAAACAGAAGGAACCTCTACATCCTGTAAATG | AC c.3240 E M T L S H S A L K Q K E P L H P V N D | p.1080 . . . . . . g.46690 AAAGAATCCTCTGAACAAGGTTCTGAAGTCAGTGAAGCACAAACTACCGACAGTGATGAT c.3300 K E S S E Q G S E V S E A Q T T D S D D p.1100 . . . | 21 . . g.55080 GTCATAGTGCCACCCATGTCTCAGAAATATCCTAAGGCA | GATTCAGAGAAGATGTGCATT c.3360 V I V P P M S Q K Y P K A | D S E K M C I p.1120 . . . . . . g.55140 GAAATTGTCTCCCTGGCCTTCTACCCAGAGGCAGAAGTGATGTCTGATGAGAACATAAAA c.3420 E I V S L A F Y P E A E V M S D E N I K p.1140 . . . . . . g.55200 CAGGTGTATGTGGAGTACAAATTCTACGACCTACCCTTGTCGGAGACAGAGACTCCAGTG c.3480 Q V Y V E Y K F Y D L P L S E T E T P V p.1160 . . . . . | 22 . g.57144 TCCCTAAGGAAGCCTAGGGCAGGAGAAGAAATCCACTTTCACTTTAGCAAGG | TAATAGAC c.3540 S L R K P R A G E E I H F H F S K V | I D p.1180 . . . . . . g.57204 CTGGACCCACAGGAGCAGCAAGGCCGAAGGCGGTTTCTGTTCGACATGCTGAATGGACAA c.3600 L D P Q E Q Q G R R R F L F D M L N G Q p.1200 . | 23. . . . . g.60238 GATCCTGATCAAGGACA | TTTAAAGTTTACAGTGGTAAGTGATCCTCTGGATGAAGAAAAG c.3660 D P D Q G H | L K F T V V S D P L D E E K p.1220 . . . . . . g.60298 AAAGAATGTGAAGAAGTGGGATATGCATATCTTCAACTGTGGCAGATCCTGGAGTCAGGA c.3720 K E C E E V G Y A Y L Q L W Q I L E S G p.1240 . . | 24 . . . g.63159 AGAGATATTCTAGAGCAAGAGCTAGACA | TTGTTAGCCCTGAAGATCTGGCTACCCCAATA c.3780 R D I L E Q E L D I | V S P E D L A T P I p.1260 . . . . . . g.63219 GGAAGGCTGAAGGTTTCCCTTCAAGCAGCTGCTGTCCTCCATGCTATTTACAAGGAGATG c.3840 G R L K V S L Q A A A V L H A I Y K E M p.1280 . . g.63240 ACTGAAGATTTGTTTTCATGA c.3861 T E D L F S X p.1286 . . . . . . g.63300 aggaacaagtgctattccaatctaaaagtctctgagggaaccatagtaaaaagtctctta c.*60 . . g.63325 taaagttagcttgctataacatgaa c.*85 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center