(used for variant description)
(last modified February 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001015880.1 in the PAPSS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012150.1, covering PAPSS2 transcript NM_001015880.1.
(upstream sequence)
. . g.5023
ctaggcggcggcggccgggtccc c.-241
. . . . . . g.5083
caaggctgggcgctgcttgcggaaccgacggggcggagaggagcgtggcgggaggaggag c.-181
. . . . . . g.5143
taggagaagggggctggtcaagggaagtgcgacgtgtctgcggagcctttttatacctcc c.-121
. . . . . . g.5203
ttcccgggagtccggcagccgctgctgctgctgctgctgctgctgccgccgccgccgccg c.-61
. . . . . . g.5263
ccgtccctgcgtccttcggtctctgctcccgggacccgggctccgccgcagccagccagc c.-1
. . | 02. . . . g.54510
ATGTCGGGGATCAAGAAGCAAAAGACG | GAGAACCAGCAGAAATCCACCAATGTAGTCTAT c.60
M S G I K K Q K T | E N Q Q K S T N V V Y p.20
. . . . . . g.54570
CAGGCCCACCATGTGAGCAGGAATAAGAGAGGGCAAGTGGTTGGAACAAGGGGTGGGTTC c.120
Q A H H V S R N K R G Q V V G T R G G F p.40
. . | 03 . . . . g.58391
CGAGGATGTACCGTGTGGCTAACAG | GTCTCTCTGGTGCTGGAAAAACAACGATAAGTTTT c.180
R G C T V W L T G | L S G A G K T T I S F p.60
. . . . . . g.58451
GCCCTGGAGGAGTACCTTGTCTCCCATGCCATCCCTTGTTACTCCCTGGATGGGGACAAT c.240
A L E E Y L V S H A I P C Y S L D G D N p.80
. . . . . . g.58511
GTCCGTCATGGCCTTAACAGAAATCTCGGATTCTCTCCTGGGGACAGAGAGGAAAATATC c.300
V R H G L N R N L G F S P G D R E E N I p.100
. . . . . . g.58571
CGCCGGATTGCTGAGGTGGCTAAGCTGTTTGCTGATGCTGGTCTGGTCTGCATTACCAGC c.360
R R I A E V A K L F A D A G L V C I T S p.120
. . | 04 . . . . g.59364
TTTATTTCTCCATTCGCAAAG | GATCGTGAGAATGCCCGCAAAATACATGAATCAGCAGGG c.420
F I S P F A K | D R E N A R K I H E S A G p.140
. . . . . . g.59424
CTGCCATTCTTTGAAATATTTGTAGATGCACCTCTAAATATTTGTGAAAGCAGAGACGTA c.480
L P F F E I F V D A P L N I C E S R D V p.160
. . . . | 05 . . g.60046
AAAGGCCTCTATAAAAGGGCCAGAGCTGGGGAGATTAAAG | GATTTACAGGTATTGATTCT c.540
K G L Y K R A R A G E I K G | F T G I D S p.180
. . . . . . g.60106
GATTATGAGAAACCTGAAACTCCTGAGCGTGTGCTTAAAACCAATTTGTCCACAGTGAGT c.600
D Y E K P E T P E R V L K T N L S T V S p.200
. . . | 06 . . g.60287
GACTGTGTCCACCAGGTAGTGGAACTTCTGCAAGAGCAG | AACATTGTACCCTATACTATA c.660
D C V H Q V V E L L Q E Q | N I V P Y T I p.220
. . . . . . g.60347
ATCAAAGATATCCACGAACTCTTTGTGCCGGAAAACAAACTTGACCACGTCCGAGCTGAG c.720
I K D I H E L F V P E N K L D H V R A E p.240
. . . | 07 . . . g.61040
GCTGAAACTCTCCCTTCATTATCAATTACTAAG | CTGGATCTCCAGTGGGTCCAGGTTTTG c.780
A E T L P S L S I T K | L D L Q W V Q V L p.260
. . . . . . g.61100
AGCGAAGGCTGGGCCACTCCCCTCAAAGGTTTCATGCGGGAGAAGGAGTACTTACAGGTT c.840
S E G W A T P L K G F M R E K E Y L Q V p.280
. . | 08 . . | 09 . . g.72585
ATGCACTTTGACACCCTGCTAGATG | GCATGGCCCTTCCTG | ATGGCGTGATCAACATGAGC c.900
M H F D T L L D G | M A L P D | G V I N M S p.300
. . . . . . g.72645
ATCCCCATTGTACTGCCCGTCTCTGCAGAGGATAAGACACGGCTGGAAGGGTGCAGCAAG c.960
I P I V L P V S A E D K T R L E G C S K p.320
. . . . . . g.72705
TTTGTCCTGGCACATGGTGGACGGAGGGTAGCTATCTTACGAGACGCTGAATTCTATGAA c.1020
F V L A H G G R R V A I L R D A E F Y E p.340
. . . . . . g.72765
CACAGAAAAGAGGAACGCTGTTCCCGTGTTTGGGGGACAACATGTACAAAACACCCCCAT c.1080
H R K E E R C S R V W G T T C T K H P H p.360
| 10 . . . . . . g.86570
ATCAAA | ATGGTGATGGAAAGTGGGGACTGGCTGGTTGGTGGAGACCTTCAGGTGCTGGAG c.1140
I K | M V M E S G D W L V G G D L Q V L E p.380
. . . . . . g.86630
AAAATAAGATGGAATGATGGGCTGGACCAATACCGTCTGACACCTCTGGAGCTCAAACAG c.1200
K I R W N D G L D Q Y R L T P L E L K Q p.400
. . | 11 . . . . g.88692
AAATGTAAAGAAATGAATGCTG | ATGCGGTGTTTGCATTCCAGTTGCGCAATCCTGTCCAC c.1260
K C K E M N A D | A V F A F Q L R N P V H p.420
. . . . . . g.88752
AATGGCCATGCCCTGTTGATGCAGGACACTCGCCGCAGGCTCCTAGAGAGGGGCTACAAG c.1320
N G H A L L M Q D T R R R L L E R G Y K p.440
. . . . . . g.88812
CACCCGGTCCTCCTACTACACCCTCTGGGCGGCTGGACCAAGGATGACGATGTGCCTCTA c.1380
H P V L L L H P L G G W T K D D D V P L p.460
. . . . . . g.88872
GACTGGCGGATGAAGCAGCACGCGGCTGTGCTCGAGGAAGGGGTCCTGGATCCCAAGTCA c.1440
D W R M K Q H A A V L E E G V L D P K S p.480
. . . . . | 12 . g.90292
ACCATTGTTGCCATCTTTCCGTCTCCCATGTTATATGCTGGCCCCACAGAG | GTCCAGTGG c.1500
T I V A I F P S P M L Y A G P T E | V Q W p.500
. . . . . . g.90352
CACTGCAGGTCCCGGATGATTGCGGGTGCCAATTTCTACATTGTGGGGAGGGACCCTGCA c.1560
H C R S R M I A G A N F Y I V G R D P A p.520
. . . . . . g.90412
GGAATGCCCCATCCTGAAACCAAGAAGGATCTGTATGAACCCACTCATGGGGGCAAGGTC c.1620
G M P H P E T K K D L Y E P T H G G K V p.540
. . . . . . g.90472
TTGAGCATGGCCCCTGGCCTCACCTCTGTGGAAATCATTCCATTCCGAGTGGCTGCCTAC c.1680
L S M A P G L T S V E I I P F R V A A Y p.560
. . . . | 13 . . g.91132
AACAAAGCCAAAAAAGCCATGGACTTCTATGATCCAGCAAG | GCACAATGAGTTTGACTTC c.1740
N K A K K A M D F Y D P A R | H N E F D F p.580
. . . . . . g.91192
ATCTCAGGAACTCGAATGAGGAAGCTCGCCCGGGAAGGAGAGAATCCCCCAGATGGCTTC c.1800
I S G T R M R K L A R E G E N P P D G F p.600
. . . . . . g.91252
ATGGCCCCCAAAGCATGGAAGGTCCTGACAGATTATTACAGGTCCCTGGAGAAGAACTAA c.1860
M A P K A W K V L T D Y Y R S L E K N X p.619
. . . . . . g.91312
gcctttggctccagagtttctttctgaagtgctctttgattaccttttctatttttatga c.*60
. . . . . . g.91372
ttagatgctttgtattaaattgcttctcaatgatgcattttaatcttttataatgaagta c.*120
. . . . . . g.91432
aaagttgtgtctataattaaaaaaaaatatatatatatacacacacacatatacatacaa c.*180
. . . . . . g.91492
agtcaaactgaagaccaaatcttagcaggtaaaagcaatattcttatacatttcataata c.*240
. . . . . . g.91552
aaattagctctatgtattttctactgcacctgagcaggcaggtcccagatttcttaaggc c.*300
. . . . . . g.91612
tttgtttgaccatgtgtctagttacttgctgaaaagtgaatatattttccagcatgtctt c.*360
. . . . . . g.91672
gacaacctgtactcttccaatgtcatttatcagttgtaaaatatatcagattgtgtcctc c.*420
. . . . . . g.91732
ttctgtacaattgacaaaaaaaaaaatttttttttctcactctaaaagaggtgtggctca c.*480
. . . . . . g.91792
catcaagattcttcctgatattttacctcatgctgtacaaagccttaatgttgtaatcat c.*540
. . . . . . g.91852
atcttacgtgttgaagacctgactggagaaacaaaatgtgcaataacgtgaattttatct c.*600
. . . . . . g.91912
tagagatctgtgcagcctatttctgtcacaaaagttatattgtctaataagagaagtctt c.*660
. . . . . . g.91972
aatggcctctgtgaataatgtaactccagttacacggtgacttttaatagcatacagtga c.*720
. . . . . . g.92032
tttgatgaaaggacgtcaaacaatgtggcgatgtcgtggaaagttatctttcccgctctt c.*780
. . . . . . g.92092
tgctgtggtcattgtgtcttgcagaaaggatggccctgatgcagcagcagcgccagctgt c.*840
. . . . . . g.92152
aataaaaaataattcacactatcagactagcaaggcactagaactggaaaagaccacaga c.*900
. . . . . . g.92212
aaacaaagaatccaaccctttcatcttacaggtgaacaaactgtgatgatgcacatgtat c.*960
. . . . . . g.92272
gtgttttgtaagctgtgagcaccgtaacaaaatgtaaatttgccattattaggaagtgct c.*1020
. . . . . . g.92332
ggtggcagtgaagaagcacccaggccacttgactcccagtctggtgccctgtctacacca c.*1080
. . . . . . g.92392
gacaacacaggagctgggtcagattcccctcagctgcttaacaaagttcctcgaacagaa c.*1140
. . . . . . g.92452
agtgcttacaaagctgccttctcggatactgaaaggtcgagttttctgaactgcactgat c.*1200
. . . . . . g.92512
tttattgcagttgaaaaaaaaaaaaagctattccaaagatttcaagctgttctgagacat c.*1260
. . . . . . g.92572
cttctgatggctttacttcctgagaggcaatgtttttactttatgcataattcattgttg c.*1320
. . . . . . g.92632
ccaaggaataaagtgaagaaacagcaccttttaatatataggtctctctggaagagacct c.*1380
. . . . . . g.92692
aaattagaaagagaaaactgtgacaattttcatattctcattcttaaaaaacactaatct c.*1440
. . . . . . g.92752
taactaacaaaagttcttttgagaataagttacacacaatggccacagcagtttgtcttt c.*1500
. . . . . . g.92812
aatagtatagtgcctatactcatgtaatcggttactcactactgcctttaaaaaaaaaaa c.*1560
. . . . . . g.92872
ccagcatatttattgaaaacatgagacaggattatagtgccttaaccgatatattttgtg c.*1620
. . . . . . g.92932
acttaaaaaatacatttaaaactgctcttctgctctagtaccatgcttagtgcaaatgat c.*1680
. . . . . g.92987
tatttctatgtacaactgatgcttgttcttattttaataaatttatcagagtgaa c.*1735
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21b
©2004-2019 Leiden University Medical Center