(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