(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004698.2 in the PRPF3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008245.1, covering PRPF3 transcript NM_004698.2.
(upstream sequence)
. . . . g.5042
gacagcggcgtggcggcggcggtggcggtagcgacggcacgc c.-121
. . . . . . g.5102
cgtagggcggtcagaaggtttccggttccggtgtaacgttcgggctccgtctcaggggct c.-61
. . | 02 . . . . g.8473
gaagtttgtgag | gtgtagtattgagtcctgtttgagctattgttctctttttcctgaaaa c.-1
. . . . . . g.8533
ATGGCACTGTCAAAGAGGGAGCTGGATGAGCTGAAACCATGGATAGAGAAGACAGTGAAG c.60
M A L S K R E L D E L K P W I E K T V K p.20
. . . . . . g.8593
AGGGTCCTGGGTTTCTCAGAGCCTACGGTGGTCACAGCAGCATTGAACTGTGTGGGGAAG c.120
R V L G F S E P T V V T A A L N C V G K p.40
. . | 03 . . . . g.9316
GGCATGGACAAGAAGAAGGCAGCCG | ATCATCTGAAACCTTTTCTTGATGATTCTACTCTC c.180
G M D K K K A A D | H L K P F L D D S T L p.60
. . . . . . g.9376
CGATTTGTGGACAAACTGTTTGAGGCTGTGGAGGAAGGCCGAAGCTCTAGGCATTCCAAG c.240
R F V D K L F E A V E E G R S S R H S K p.80
. . . | 04 . . . g.11875
TCTAGCAGTGACAGGAGCAGAAAACGAGAGCTAAAG | GAGGTGTTTGGTGATGACTCTGAG c.300
S S S D R S R K R E L K | E V F G D D S E p.100
. . . . . . g.11935
ATCTCTAAAGAATCATCAGGAGTAAAGAAGCGACGAATACCCCGTTTTGAGGAGGTGGAA c.360
I S K E S S G V K K R R I P R F E E V E p.120
. . . . . . g.11995
GAAGAGCCAGAGGTGATCCCTGGGCCTCCATCAGAGAGCCCTGGCATGCTGACTAAGCTC c.420
E E P E V I P G P P S E S P G M L T K L p.140
| 05 . . . . . . g.16284
CAG | ATCAAACAGATGATGGAGGCAGCAACACGACAAATCGAGGAGAGGAAAAAACAGCTG c.480
Q | I K Q M M E A A T R Q I E E R K K Q L p.160
. . | 06. . . . g.16555
AGCTTCATTAGCCCCCCTACACCTCAG | CCAAAGACTCCTTCTTCCTCCCAACCAGAACGA c.540
S F I S P P T P Q | P K T P S S S Q P E R p.180
. . . . . . g.16615
CTTCCTATTGGCAACACTATTCAGCCCTCCCAGGCTGCCACTTTCATGAATGATGCCATT c.600
L P I G N T I Q P S Q A A T F M N D A I p.200
. . . . . . g.16675
GAGAAGGCAAGGAAAGCAGCTGAACTGCAAGCTCGAATCCAAGCCCAGCTGGCACTGAAG c.660
E K A R K A A E L Q A R I Q A Q L A L K p.220
. . . . . . g.16735
CCAGGACTCATCGGCAATGCCAACATGGTGGGCCTGGCTAATCTCCATGCCATGGGCATT c.720
P G L I G N A N M V G L A N L H A M G I p.240
| 07 . . . . . g.18530
GCTCCCCC | GAAGGTGGAGTTAAAAGACCAAACGAAACCTACACCACTGATCCTGGATGAG c.780
A P P | K V E L K D Q T K P T P L I L D E p.260
. . . . . . g.18590
CAAGGGCGCACTGTAGATGCAACAGGCAAGGAGATTGAGCTGACACACCGCATGCCTACT c.840
Q G R T V D A T G K E I E L T H R M P T p.280
. . . . . . g.18650
CTGAAAGCCAATATTCGTGCTGTGAAGAGGGAACAATTCAAGCAACAACTAAAGGAAAAG c.900
L K A N I R A V K R E Q F K Q Q L K E K p.300
. . . . . . g.18710
CCATCAGAAGACATGGAATCCAATACCTTTTTTGACCCCCGAGTCTCCATTGCCCCTTCC c.960
P S E D M E S N T F F D P R V S I A P S p.320
. . . . . . g.18770
CAGCGCCAGAGACGCACTTTTAAATTCCATGACAAGGGCAAATTTGAGAAGATTGCTCAG c.1020
Q R Q R R T F K F H D K G K F E K I A Q p.340
. | 08 . . . . . g.21753
CGATTACGGACAAAG | GCTCAACTGGAGAAGCTACAGGCAGAGATTTCACAAGCAGCTCGA c.1080
R L R T K | A Q L E K L Q A E I S Q A A R p.360
. . . . . . g.21813
AAAACAGGCATCCATACTTCGACTAGGCTTGCCCTCATTGCTCCTAAGAAGGAGCTAAAG c.1140
K T G I H T S T R L A L I A P K K E L K p.380
. . . . . . g.21873
GAAGGAGATATTCCTGAAATTGAGTGGTGGGACTCTTACATAATCCCCAATGGCTTTGAT c.1200
E G D I P E I E W W D S Y I I P N G F D p.400
| 09 . . . . . . g.24004
CT | TACAGAGGAAAATCCCAAGAGAGAAGATTATTTTGGAATCACAAATCTTGTTGAACAT c.1260
L | T E E N P K R E D Y F G I T N L V E H p.420
. . | 10 . . . . g.26895
CCAGCCCAGCTCAATCCTCCAG | TTGACAATGACACACCAGTTACTCTGGGAGTATATCTT c.1320
P A Q L N P P V | D N D T P V T L G V Y L p.440
. . . . . . g.26955
ACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTA c.1380
T K K E Q K K L R R Q T R R E A Q K E L p.460
. . . . | 11 . . g.27724
CAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAG | TGAGAATTTCTAAT c.1440
Q E K V R L G L M P P P E P K V | R I S N p.480
. . . . . . g.27784
TTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTC c.1500
L M R V L G T E A V Q D P T K V E A H V p.500
. . | 12 . . . . g.28016
AGAGCTCAGATGGCAAAAAGACAGAA | AGCGCATGAAGAGGCCAACGCTGCCCGAAAACTC c.1560
R A Q M A K R Q K | A H E E A N A A R K L p.520
. . . . . . g.28076
ACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGG c.1620
T A E Q R K V K K I K K L K E D I S Q G p.540
. . | 13 . . . . g.29606
GTACACATATCTGTATATAG | AGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATT c.1680
V H I S V Y R | V R N L S N P A K K F K I p.560
. . . . . . g.29666
GAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAAC c.1740
E A N A G Q L Y L T G V V V L H K D V N p.580
. | 14 . . . . g.29997
GTGGTAGTAGTGGAAGGGG | GCCCCAAGGCCCAGAAGAAATTTAAGCGTCTTATGCTGCAT c.1800
V V V V E G G | P K A Q K K F K R L M L H p.600
. . . . | 15 . . g.32722
CGGATAAAGTGGGATGAACAGACATCTAACACAAAGGGAGATG | ATGATGAGGAGTCTGAT c.1860
R I K W D E Q T S N T K G D D | D E E S D p.620
. . . . | 16 . . g.36396
GAGGAAGCTGTGAAGAAAACCAACAAATGTGTACTAGTCTGGGAG | GGTACAGCCAAAGAC c.1920
E E A V K K T N K C V L V W E | G T A K D p.640
. . . . . . g.36456
CGGAGCTTTGGAGAGATGAAGTTTAAACAGTGTCCTACAGAGAACATGGCTCGTGAGCAT c.1980
R S F G E M K F K Q C P T E N M A R E H p.660
. . . . . . g.36516
TTCAAAAAGCATGGGGCTGAACACTACTGGGACCTTGCGCTGAGTGAATCTGTGTTAGAG c.2040
F K K H G A E H Y W D L A L S E S V L E p.680
. g.36528
TCCACTGATTGA c.2052
S T D X p.683
. . . . . . g.36588
gactactgcaagcccttgcctctcctcccttgcctttgtctcttcagtcctctcacttat c.*60
. . . . . . g.36648
tctatttcccaaccccctcccacttgtttgtgtgatctcagaactgtgccaagcagacac c.*120
. . . . . . g.36708
tgggacaaagggagaatatcttgctcccctcctgagtcagcctggtgttgccctttattc c.*180
. . . . . . g.36768
cccttatgtgcatatgattaaagagttatttttaaacttggtgtgatatttttcacacat c.*240
g.36777
tcgtaagta c.*249
(downstream sequence)
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