(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015629.3 in the PRPF31 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009759.1, covering PRPF31 transcript NM_015629.3.
(upstream sequence)
. . . g.5036
tagtttcctgtttccggcttcgcttcggcccacccc c.-361
. . . . . . g.5096
cacgtccaccccgaatccctgcttaaaggccttgctttcttgtctaacgccgcaaccagt c.-301
. . . . . . g.5156
cctctgagttgccaacgtctttcttcttgtctcgacgccccgtcgtccggccacagcgat c.-241
. . . . . . g.5216
tctctgcttagcaggatcggtccacagcgggacgtgagtccctttcctcctcgcggctta c.-181
. . . . . . g.5276
ccgcctctctccgcctagtgccaggtgctaataaagttgttgtttcaaatgcggccagga c.-121
. . . . . . g.5336
acatcgcgagcggggaccaatcagagagtagctttgcctctataacggcgcgagagtgag c.-61
. . . . . . | 02 g.7869
acgtcatcggtgagcgactaacgctagaaacagtggtgcgcggagaggagag | gcctcggg c.-1
. . . . . . g.7929
ATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGA c.60
M S L A D E L L A D L E E A A E E E E G p.20
. . . . . . g.7989
GGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAG c.120
G S Y G E E E E E P A I E D V Q E E T Q p.40
. . . . . | 03. g.8166
CTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATG | TTT c.180
L D L S G D S V K T I A K L W D S K M | F p.60
. . . . . | 04 g.11451
GCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAG | TG c.240
A E I M M K I E E Y I S K Q A K A S E V | p.80
. . . . . . g.11511
ATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACC c.300
M G P V E A A P E Y R V I V D A N N L T p.100
. . | 05 . . . . g.12124
GTGGAGATCGAAAACGAGCTGA | ACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAG c.360
V E I E N E L N | I I H K F I R D K Y S K p.120
. . . . . . g.12184
AGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAG c.420
R F P E L E S L V P N A L D Y I R T V K p.140
| 06 . . . . . . g.13103
| GAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACC c.480
| E L G N S L D K C K N N E N L Q Q I L T p.160
. . . . | 07. . g.13351
AATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGG | GCAGCAGCTGTCG c.540
N A T I M V V S V T A S T T Q G | Q Q L S p.180
. . . . . . g.13411
GAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCC c.600
E E E L E R L E E A C D M A L E L N A S p.200
. . . . . . g.13471
AAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCC c.660
K H R I Y E Y V E S R M S F I A P N L S p.220
. . . | 08. . . g.14111
ATCATTATCGGGGCATCCACGGCCGCCAAGATCATGG | GTGTGGCCGGCGGCCTGACCAAC c.720
I I I G A S T A A K I M G | V A G G L T N p.240
. . . . . . g.14171
CTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCG c.780
L S K M P A C N I M L L G A Q R K T L S p.260
. . . . . . g.14231
GGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTG c.840
G F S S T S V L P H T G Y I Y H S D I V p.280
. | 09 . . . . . g.16158
CAGTCCCTGCCACCG | GATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACA c.900
Q S L P P | D L R R K A A R L V A A K C T p.300
. . . . | 10 . . g.17673
CTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAG | GTGGGCTACGAACTG c.960
L A A R V D S F H E S T E G K | V G Y E L p.320
. . . . . . g.17733
AAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTG c.1020
K D E I E R K F D K W Q E P P P V K Q V p.340
. . . . . | 11 . g.17897
AAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAG | GTACCGC c.1080
K P L P A P L D G Q R K K R G G R R | Y R p.360
. . . . . . g.17957
AAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTC c.1140
K M K E R L G L T E I R K Q A N R M S F p.380
| 12 . . . . . . g.18696
GGAGAG | ATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGC c.1200
G E | I E E D A Y Q E D L G F S L G H L G p.400
. . . . . . g.18756
AAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATC c.1260
K S G S G R V R Q T Q V N E A T K A R I p.420
. | 13 . . . . . g.18902
TCCAAGACGCTGCAG | CGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACC c.1320
S K T L Q | R T L Q K Q S V V Y G G K S T p.440
. . . . . | 14 . g.20954
ATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAG | GGCCTG c.1380
I R D R S S G T A S S V A F T P L Q | G L p.460
. . . . . . g.21014
GAGATTGTGAACCCACAGGCGGCAGAGAAGAAGGTGGCTGAGGCCAACCAGAAGTATTTC c.1440
E I V N P Q A A E K K V A E A N Q K Y F p.480
. . . . . . g.21074
TCCAGCATGGCTGAGTTCCTCAAGGTCAAGGGCGAGAAGAGTGGCCTTATGTCCACCTGA c.1500
S S M A E F L K V K G E K S G L M S T X p.499
. . . . . . g.21134
atgactgcgtgtgtccaaggtggcttcccactgaagggacacagaggtccagtccttctg c.*60
. . . . . . g.21194
aagggctaggatcgggttctggcagggagaacctgccctgccactggccccattgctggg c.*120
. . . . . . g.21254
actgcccagggaggaggccttggaagagtccggcctggcctcccccaggaccgagatcac c.*180
. . . . . . g.21314
cgcccagtatgggctagagcaggtcttcatcatgccttgtcttttttaactgagaaagga c.*240
. . . . g.21361
gattttttgaaaagagtacaattaaaaggacattgtcaagatctgtc c.*287
(downstream sequence)
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