(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_012469.3 in the PRPF6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029719.1, covering PRPF6 transcript NM_012469.3.
(upstream sequence)
. . . . g.5048
gggcggggcgtgtgcggactgagcgctctgcttccggggcgcgggtga c.-121
. . . . . . g.5108
cgcgacgacggcgacactttgctacggagtgcatcggacgtcgaagcctagagtctctgc c.-61
. . . . . . g.5168
gtctttccctcttccgctgcctcattcctttccttcctagccttggtcgtcgccgccacc c.-1
. . . . . . g.5228
ATGAACAAGAAGAAGAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGG c.60
M N K K K K P F L G M P A P L G Y V P G p.20
. | 02 . . . . . g.7018
CTGGGCCGGGG | CGCCACTGGCTTCACCACGCGGTCAGACATTGGGCCCGCCCGTGATGCA c.120
L G R G | A T G F T T R S D I G P A R D A p.40
. . . . . . g.7078
AATGACCCTGTGGATGATCGCCATGCACCCCCAGGCAAGAGAACCGTTGGGGACCAGATG c.180
N D P V D D R H A P P G K R T V G D Q M p.60
. . . . . . g.7138
AAGAAAAATCAGGCTGCTGACGATGACGACGAGGATCTAAATGACACCAATTACGATGAG c.240
K K N Q A A D D D D E D L N D T N Y D E p.80
| 03 . . . . . . g.8889
| TTTAATGGCTATGCTGGGAGCCTCTTCTCAAGTGGACCCTACGAGAAAGATGATGAGGAA c.300
| F N G Y A G S L F S S G P Y E K D D E E p.100
. . . . . | 04 g.17330
GCAGATGCTATCTATGCAGCCCTGGATAAAAGGATGGATGAAAGAAGAAAAGAAAGACG | G c.360
A D A I Y A A L D K R M D E R R K E R R | p.120
. . . . . . g.17390
GAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCCCAAAATCCAACAG c.420
E Q R E K E E I E K Y R M E R P K I Q Q p.140
. | 05 . . . . g.18880
CAGTTCTCAGACCTCAAG | AGGAAGTTGGCAGAAGTCACAGAAGAAGAGTGGCTGAGCATC c.480
Q F S D L K | R K L A E V T E E E W L S I p.160
. . . . . . g.18940
CCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAACCCACGCTATGAGAAGCTGACC c.540
P E V G D A R N K R Q R N P R Y E K L T p.180
. . . . . . g.19000
CCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGTG c.600
P V P D S F F A K H L Q T G E N H T S V p.200
. | 06 . . . . . g.19294
GATCCCCGACAAACT | CAATTTGGAGGTCTTAACACACCCTATCCAGGTGGACTAAACACT c.660
D P R Q T | Q F G G L N T P Y P G G L N T p.220
. . . . . . g.19354
CCATACCCAGGTGGAATGACGCCAGGACTGATGACACCTGGCACAGGTGAGCTGGACATG c.720
P Y P G G M T P G L M T P G T G E L D M p.240
. . . . . | 07 . g.22976
AGGAAGATTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAG | GTGTCTGAC c.780
R K I G Q A R N T L M D M R L S Q | V S D p.260
. . . . . . g.23036
TCCGTGAGTGGACAGACCGTCGTTGACCCCAAAGGCTACCTGACGGATTTAAATTCCATG c.840
S V S G Q T V V D P K G Y L T D L N S M p.280
. . | 08 . . . . g.23559
ATCCCGACACACGGAGGAGACATCAA | TGATATCAAGAAGGCGCGACTGCTCCTCAAGTCT c.900
I P T H G G D I N | D I K K A R L L L K S p.300
. . . . . . g.23619
GTTCGGGAGACGAACCCTCATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAA c.960
V R E T N P H H P P A W I A S A R L E E p.320
. . . . . . g.23679
GTCACTGGGAAGCTACAAGTAGCTCGGAACCTTATCATGAAGGGGACGGAGATGTGCCCC c.1020
V T G K L Q V A R N L I M K G T E M C P p.340
| 09 . . . . . . g.25056
AAG | AGTGAAGATGTCTGGCTGGAAGCAGCCAGGTTGCAGCCTGGGGACACAGCCAAGGCC c.1080
K | S E D V W L E A A R L Q P G D T A K A p.360
. . . . . . g.25116
GTGGTAGCCCAAGCTGTCCGTCATCTCCCACAGTCTGTCAGGATTTACATCAGAGCCGCA c.1140
V V A Q A V R H L P Q S V R I Y I R A A p.380
. . . . | 10 . . g.34136
GAGCTGGAAACGGACATTCGTGCAAAGAAGCGGGTTCTTCGGAAAG | CCCTCGAGCATGTT c.1200
E L E T D I R A K K R V L R K A | L E H V p.400
. . . . . . g.34196
CCAAACTCGGTTCGCTTGTGGAAAGCAGCCGTTGAGCTGGAAGAACCTGAAGATGCTAGA c.1260
P N S V R L W K A A V E L E E P E D A R p.420
. . . . | 11 . . g.35222
ATCATGCTGAGCCGAGCTGTGGAGTGCTGCCCCACCAGCGTGGAG | CTCTGGCTTGCTCTG c.1320
I M L S R A V E C C P T S V E | L W L A L p.440
. . . . . . g.35282
GCAAGGCTGGAGACCTATGAAAATGCCCGCAAGGTCTTGAACAAGGCGCGGGAGAACATT c.1380
A R L E T Y E N A R K V L N K A R E N I p.460
. . . . . . g.35342
CCTACAGACCGACATATCTGGATCACGGCTGCTAAGCTGGAGGAAGCCAATGGGAACACG c.1440
P T D R H I W I T A A K L E E A N G N T p.480
. . . . . . g.35402
CAGATGGTGGAGAAGATCATCGACCGAGCCATCACCTCGCTGCGGGCCAACGGTGTGGAG c.1500
Q M V E K I I D R A I T S L R A N G V E p.500
. . | 12 . . . . g.40681
ATCAACCGTGAGCAGTGGATCCAG | GATGCCGAGGAATGTGACAGGGCTGGGAGTGTGGCC c.1560
I N R E Q W I Q | D A E E C D R A G S V A p.520
. . . . . . g.40741
ACCTGCCAGGCCGTCATGCGTGCCGTGATTGGGATTGGGATTGAGGAGGAAGATCGGAAG c.1620
T C Q A V M R A V I G I G I E E E D R K p.540
. . | 13. . . . g.46712
CATACCTGGATGGAGGATGCTGACAGT | TGTGTAGCCCACAATGCCCTGGAGTGTGCACGA c.1680
H T W M E D A D S | C V A H N A L E C A R p.560
. . . . . . g.46772
GCCATCTACGCCTACGCCCTGCAGGTGTTCCCCAGCAAGAAGAGTGTGTGGCTGCGCGCC c.1740
A I Y A Y A L Q V F P S K K S V W L R A p.580
. . | 14 . . . g.48508
GCGTACTTCGAGAAGAACCATGGCACTCG | GGAGTCCCTGGAAGCACTCCTGCAGAGGGCT c.1800
A Y F E K N H G T R | E S L E A L L Q R A p.600
. . . . . . g.48568
GTGGCCCACTGCCCCAAAGCAGAGGTGCTGTGGCTCATGGGCGCCAAGTCCAAGTGGCTG c.1860
V A H C P K A E V L W L M G A K S K W L p.620
. . . . | 15 . g.49873
GCAGGGGATGTGCCTGCAGCAAGGAGCATCCTGGCCCTGGCCTTCCAG | GCCAACCCCAAC c.1920
A G D V P A A R S I L A L A F Q | A N P N p.640
. . . . . . g.49933
AGTGAGGAGATCTGGCTGGCAGCCGTGAAGCTGGAGTCCGAGAATGATGAGTACGAGCGG c.1980
S E E I W L A A V K L E S E N D E Y E R p.660
. . . . | 16 . g.50916
GCCCGGAGGCTGCTGGCCAAGGCGCGGAGCAGTGCCCCCACCGCCCGG | GTGTTCATGAAG c.2040
A R R L L A K A R S S A P T A R | V F M K p.680
. . . . . . g.50976
TCTGTGAAGCTGGAGTGGGTGCAAGACAACATCAGGGCAGCCCAAGATCTGTGCGAGGAG c.2100
S V K L E W V Q D N I R A A Q D L C E E p.700
. . . . . . g.51036
GCCCTGCGGCACTATGAGGACTTCCCCAAGCTGTGGATGATGAAGGGGCAGATCGAGGAG c.2160
A L R H Y E D F P K L W M M K G Q I E E p.720
. . . . | 17 . . g.51540
CAGAAGGAGATGATGGAGAAGGCGCGGGAAGCCTATAACCAGGGG | TTGAAGAAGTGTCCC c.2220
Q K E M M E K A R E A Y N Q G | L K K C P p.740
. . . . . . g.51600
CACTCCACACCCCTGTGGCTTTTGCTCTCTCGGCTGGAGGAGAAGATTGGGCAGCTTACT c.2280
H S T P L W L L L S R L E E K I G Q L T p.760
. . . . . | 18 g.52401
CGAGCACGGGCCATTTTGGAAAAGTCTCGTCTGAAGAACCCAAAGAACCCTGGGCTGTG | G c.2340
R A R A I L E K S R L K N P K N P G L W | p.780
. . . . . . g.52461
TTGGAGTCCGTGCGGCTGGAGTACCGTGCGGGGCTGAAGAACATCGCAAATACACTCATG c.2400
L E S V R L E Y R A G L K N I A N T L M p.800
. . . | 19 . . . g.53328
GCCAAGGCGCTGCAGGAGTGCCCCAACTCCG | GTATCCTGTGGTCTGAGGCCATCTTCCTC c.2460
A K A L Q E C P N S G | I L W S E A I F L p.820
. . . . . . g.53388
GAGGCAAGGCCCCAGAGGAGGACCAAGAGCGTGGATGCCCTGAAGAAGTGTGAGCATGAC c.2520
E A R P Q R R T K S V D A L K K C E H D p.840
. . | 20 . . . . g.55874
CCCCATGTGCTCCTGGCCGTGGCCAA | GCTGTTTTGGAGTCAGCGGAAGATCACCAAGGCC c.2580
P H V L L A V A K | L F W S Q R K I T K A p.860
. . . . . . g.55934
AGGGAGTGGTTCCACCGCACTGTGAAGATTGACTCGGACCTGGGGGATGCCTGGGCCTTC c.2640
R E W F H R T V K I D S D L G D A W A F p.880
. . . | 21 . . . g.56790
TTCTACAAGTTTGAGCTGCAGCATGGCACTGAG | GAGCAGCAGGAGGAGGTGAGGAAGCGC c.2700
F Y K F E L Q H G T E | E Q Q E E V R K R p.900
. . . . . . g.56850
TGTGAGAGTGCAGAGCCTCGGCATGGGGAGCTGTGGTGCGCCGTGTCCAAGGACATCGCC c.2760
C E S A E P R H G E L W C A V S K D I A p.920
. . . . . . g.56910
AACTGGCAGAAGAAGATCGGGGACATCCTTAGGCTGGTGGCCGGCCGCATCAAGAACACC c.2820
N W Q K K I G D I L R L V A G R I K N T p.940
g.56916
TTCTGA c.2826
F X p.941
. . . . . . g.56976
ttgagcggttgccatggccggtctccgtggggcagggttgggccgcatgtggaagggctc c.*60
. . . . g.57023
tgagctgtgtcctccttcattaaaagtttttatgtctcgtgtcagaa c.*107
(downstream sequence)
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