(used for variant description)
(last modified October 31, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_019042.3 in the PUS7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering PUS7 transcript NM_019042.3.
(upstream sequence)
. . . g.5039
gtgcgagcccggccgccggtgagtcggctggagcgcatc c.-181
. . . . . . g.5099
tggtcctccgcgcggaaagcgctgcttttgcctggccgccctagccgctggctcatccaa c.-121
. . . . . . g.5159
gtggccttcgccgctctcttgcgtcccaaccagagcgctggccacctcgccgcccagctc c.-61
. . . | 02. . . g.18726
acgccgcgcccgcgctcccaggctccgg | gttttcttaaatgttttcttggagccttaaag c.-1
. . . . . . g.18786
ATGGAGATGACAGAAATGACTGGTGTGTCGCTGAAACGTGGGGCACTGGTTGTCGAAGAT c.60
M E M T E M T G V S L K R G A L V V E D p.20
. . . . . . g.18846
AATGACAGTGGAGTCCCAGTTGAAGAGACAAAAAAACAGAAGCTGTCGGAATGCAGTCTA c.120
N D S G V P V E E T K K Q K L S E C S L p.40
. . . . . . g.18906
ACCAAAGGTCAAGATGGGCTACAGAATGACTTTCTGTCCATCAGTGAAGACGTGCCTCGG c.180
T K G Q D G L Q N D F L S I S E D V P R p.60
. . . . . . g.18966
CCTCCTGACACTGTCAGTACTGGGAAAGGTGGAAAGAATTCTGAGGCTCAGTTGGAAGAT c.240
P P D T V S T G K G G K N S E A Q L E D p.80
. . . . . . g.19026
GAGGAAGAAGAGGAGGAAGATGGACTTTCAGAGGAGTGCGAGGAGGAGGAATCAGAGAGT c.300
E E E E E E D G L S E E C E E E E S E S p.100
. . . . . . g.19086
TTTGCAGACATGATGAAGCATGGACTCACTGAGGCTGACGTAGGCATCACCAAGTTTGTG c.360
F A D M M K H G L T E A D V G I T K F V p.120
. . . | 03 . . g.20987
AGTTCTCATCAAGGGTTCTCGGGAATCTTAAAAGAAAG | ATACTCCGACTTCGTTGTTCAT c.420
S S H Q G F S G I L K E R | Y S D F V V H p.140
. . . . . . g.21047
GAAATAGGAAAAGATGGACGGATCAGCCATTTGAATGACTTGTCCATTCCAGTGGATGAG c.480
E I G K D G R I S H L N D L S I P V D E p.160
| 04 . . . . . . g.21239
GAG | GACCCTTCAGAAGACATATTTACAGTTTTGACAGCTGAAGAAAAGCAGCGATTGGAA c.540
E | D P S E D I F T V L T A E E K Q R L E p.180
. . . . | 05 . . g.24689
GAGCTCCAGCTGTTCAAAAATAAGGAAACCAGTGTTGCCATTGAG | GTTATCGAGGACACC c.600
E L Q L F K N K E T S V A I E | V I E D T p.200
. . . . . . g.24749
AAAGAGAAAAGAACCATCATCCATCAGGCTATCAAATCTCTGTTTCCAGGATTAGAGACA c.660
K E K R T I I H Q A I K S L F P G L E T p.220
. . . . . . g.24809
AAAACAGAGGATAGGGAGGGGAAGAAATACATTGTAGCCTACCACGCAGCTGGGAAAAAG c.720
K T E D R E G K K Y I V A Y H A A G K K p.240
. | 06 . . . . . g.32035
GCTTTGGCAA | ATCCAAGAAAACATTCTTGGCCAAAATCTAGGGGAAGTTACTGCCACTTC c.780
A L A N | P R K H S W P K S R G S Y C H F p.260
. . . . . . g.32095
GTACTATATAAGGAAAACAAAGACACCATGGATGCTATTAATGTACTCTCCAAATACTTA c.840
V L Y K E N K D T M D A I N V L S K Y L p.280
| 07 . . . . . . g.35679
AG | AGTCAAGCCAAATATATTCTCCTACATGGGAACCAAAGATAAAAGGGCTATAACAGTT c.900
R | V K P N I F S Y M G T K D K R A I T V p.300
. . | 08 . . . . g.44838
CAAGAAATTGCTGTTCTCAA | AATAACTGCACAAAGACTTGCCCACCTGAATAAGTGCTTG c.960
Q E I A V L K | I T A Q R L A H L N K C L p.320
. . . . . . g.44898
ATGAACTTTAAGCTAGGGAATTTCAGCTATCAAAAAAACCCACTGAAATTGGGAGAGCTT c.1020
M N F K L G N F S Y Q K N P L K L G E L p.340
. . | 09 . . . g.46092
CAAGGAAACCACTTCACTGTTGTTCTCAG | AAATATAACAGGAACTGATGACCAAGTACAG c.1080
Q G N H F T V V L R | N I T G T D D Q V Q p.360
. . . . . . g.46152
CAAGCTATGAACTCTCTCAAGGAGATTGGATTTATTAACTACTATGGAATGCAAAGATTT c.1140
Q A M N S L K E I G F I N Y Y G M Q R F p.380
. . . | 10 . . . g.55070
GGAACCACAGCTGTCCCTACGTATCAGGTTGGAAG | AGCTATACTACAAAATTCCTGGACA c.1200
G T T A V P T Y Q V G R | A I L Q N S W T p.400
. . . | 11. . . g.56413
GAAGTCATGGATTTAATATTGAAACCCCGCTCTGGAG | CTGAAAAGGGCTACTTGGTTAAA c.1260
E V M D L I L K P R S G A | E K G Y L V K p.420
. . . . . . g.56473
TGCAGAGAAGAATGGGCAAAGACCAAAGACCCAACTGCTGCCCTCAGAAAACTACCTGTC c.1320
C R E E W A K T K D P T A A L R K L P V p.440
. . . . . . g.56533
AAAAGGTGTGTGGAAGGGCAGCTGCTTCGAGGACTTTCAAAATATGGAATGAAGAATATA c.1380
K R C V E G Q L L R G L S K Y G M K N I p.460
. | 12 . . . . g.58817
GTCTCTGCATTTGGCATA | ATACCCAGAAATAATCGCTTAATGTATATTCATAGCTACCAA c.1440
V S A F G I | I P R N N R L M Y I H S Y Q p.480
. . . . . . g.58877
AGCTATGTGTGGAATAACATGGTAAGCAAGAGGATAGAAGACTATGGACTAAAACCTGTT c.1500
S Y V W N N M V S K R I E D Y G L K P V p.500
. . | 13 . . . . g.61859
CCAGGGGACCTCGTTCTCAAAGGAG | CCACAGCCACCTATATTGAGGAAGATGATGTTAAT c.1560
P G D L V L K G A | T A T Y I E E D D V N p.520
. . . . . . g.61919
AATTACTCTATCCATGATGTGGTAATGCCCTTGCCTGGTTTCGATGTTATCTACCCAAAG c.1620
N Y S I H D V V M P L P G F D V I Y P K p.540
| 14. . . . . . g.64541
CATAAAA | TTCAAGAAGCCTACAGGGAAATGCTCACAGCTGACAATCTTGATATTGACAAC c.1680
H K I | Q E A Y R E M L T A D N L D I D N p.560
. . . . . . g.64601
ATGAGACACAAAATTCGAGATTATTCCTTGTCAGGGGCCTACCGAAAGATCATTATTCGT c.1740
M R H K I R D Y S L S G A Y R K I I I R p.580
. | 15. . . . . g.68022
CCTCAGAATGTTAGCTG | GGAAGTCGTTGCATATGATGATCCCAAAATTCCACTTTTCAAC c.1800
P Q N V S W | E V V A Y D D P K I P L F N p.600
. . . . | 16 . g.69323
ACAGATGTGGACAACCTAGAAGGGAAGACACCACCAGTTTTTGCTTCTG | AAGGCAAATAC c.1860
T D V D N L E G K T P P V F A S E | G K Y p.620
. . . . . . g.69383
AGGGCTCTGAAAATGGATTTTTCTCTACCCCCTTCTACTTACGCCACCATGGCCATTCGA c.1920
R A L K M D F S L P P S T Y A T M A I R p.640
. . . . . . g.69443
GAAGTGCTAAAAATGGATACCAGTATCAAGAACCAGACGCAGCTGAATACAACCTGGCTT c.1980
E V L K M D T S I K N Q T Q L N T T W L p.660
g.69449
CGCTGA c.1986
R X p.661
. . . . . . g.69509
gcagtaccttgtccacagattagaaaacgtacacaagtgtttgcttcctggctccctgtg c.*60
. . . . . . g.69569
catttttgtcttagttcagactcatatatggatttcaaatctttgtaataaaaattattt c.*120
. . . . . . g.69629
gtatttttaagtttttattagcttaaagaaataatttgcaatatttgtacatgtacacaa c.*180
. . . . . . g.69689
atcctgaggttcttaattttagctcagaatataaattagtcaaaatacacttcaggtgct c.*240
. . . . . . g.69749
taaatcagagtaaaatgtcagctttacaataataaaaaaaggactttggtttaaagtagc c.*300
. . . . . . g.69809
aggtttaggttttgctacattctcaaaagacagcaggagtatttgacacatctgtgatgg c.*360
. . . . . . g.69869
agtatacaacaatgcattttaagagcaaatgcaacaaaacaaatctggactatggataaa c.*420
. . . . . . g.69929
taatttgagagctgccacccacaaatataaatacagtactcatgctgactgaaataataa c.*480
. . . . . . g.69989
gacatctacaaatttataaacaaaaagtgattgtcattatcctgcttatgtactagattc c.*540
. . . . . . g.70049
aggcaagcattatagactttttggttgcggtggcttttgcatttatattatcaatgcctt c.*600
. . . . . . g.70109
gcaggaacgttgcattgataggcccattttatttttttattttttttttcgagacaggat c.*660
. . . . . . g.70169
ctcactctgtagcacaggctggattgcagtgcaatcctgcaattctcaatcttgcactgc c.*720
. . . . . . g.70229
agcctcgacctcccaggctccagtgactctcccacctcagcctcctaagtagctgggagt c.*780
. . . . . . g.70289
acaggcgcgcaccaccacgcctagctgatttttgtatttttttgtagagacgggggtttg c.*840
. . . . . . g.70349
gccatgttgccgaggctaactcctgggattacaggcatgagctgtgctggccgggttttt c.*900
. . . . . . g.70409
ttttcttgatgtaaacgtgtacagctgttttattagttaaggtctaatttttactctagg c.*960
. . . . . . g.70469
tgccttttatgttcagaactctttccactggactggtatttgctcaaaaataaataatgg c.*1020
. . . . . . g.70529
tagagaagaaaactataaaaatggacaaggctttcttctatcagtagcgtttaccctttg c.*1080
. . . . . . g.70589
tcaccagtggctttggtatttccatgtctggcattgcataaacttctctggtgtgaaagg c.*1140
. . . . . . g.70649
ataaatatgcctttctaaagttgtatatcaaaattgtatcaatttttattttctatgatt c.*1200
. . . . . . g.70709
tctagaaacaaatgtaataaatatttttaaaatctcctttctactggttatgtaaataaa c.*1260
. g.70728
tcaaataaatatatcaaaa c.*1279
(downstream sequence)
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