(used for mutation description)
(last modified April 17, 2009)
This file was created to facilitate the description of sequence variants in the ZMPSTE24 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008695.1, covering ZMPSTE24 transcript NM_005857.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5031
agaaactaggagggactagggagagtctgca c.-181
. . . . . . g.5091
aggggaagagtgtgtctgtgacactgccagcagcgcgcagagggagggatgggggcgggt c.-121
. . . . . . g.5151
atcggcgtaggggccctcggaaagaacggatattgctgtgacaccgcggggacgctctga c.-61
. . . . . . g.5211
agggacgagtgtcggtgtggcaccggtgcacgctgaaggagccggcggaaccgggtggcc c.-1
. . . . . . g.5271
ATGGGGATGTGGGCATCGCTGGACGCTTTGTGGGAGATGCCGGCCGAGAAGCGTATCTTC c.60
M G M W A S L D A L W E M P A E K R I F p.20
. . . . . . g.5331
GGGGCCGTGCTGCTCTTTTCCTGGACAGTGTATCTTTGGGAGACCTTCCTAGCACAGCGG c.120
G A V L L F S W T V Y L W E T F L A Q R p.40
| 02 . . . . . . g.7835
CAG | AGAAGGATATATAAAACAACAACTCATGTACCACCGGAGTTAGGACAGATCATGGAT c.180
Q | R R I Y K T T T H V P P E L G Q I M D p.60
. . . . . . g.7895
TCTGAAACATTTGAGAAATCTCGACTCTATCAACTGGATAAAAGCACTTTCAGCTTCTGG c.240
S E T F E K S R L Y Q L D K S T F S F W p.80
. . . | 03 . . . g.14755
TCAGGACTCTATTCAGAGACTGAAGGCACT | CTTATTCTTCTCTTTGGAGGAATACCTTAT c.300
S G L Y S E T E G T | L I L L F G G I P Y p.100
. . . . . | 04. g.15361
CTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAG | ATC c.360
L W R L S G R F C G Y A G F G P E Y E | I p.120
. . . . . . g.15421
ACTCAGTCCCTGGTGTTTCTGCTGTTGGCTACACTTTTCAGTGCATTGACTGGTTTGCCA c.420
T Q S L V F L L L A T L F S A L T G L P p.140
. . . . . | 05 . g.16920
TGGAGTCTTTATAATACTTTTGTGATAGAAGAAAAACATGGCTTCAATCAACAG | ACTTTG c.480
W S L Y N T F V I E E K H G F N Q Q | T L p.160
. . . . . . g.16980
GGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCT c.540
G F F M K D A I K K F V V T Q C I L L P p.180
. . . . . . g.17040
GTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCC c.600
V S S L L L Y I I K I G G D Y F F I Y A p.200
. . | 06. . . . g.18866
TGGCTGTTCACATTAGTTGTGTCTCTG | GTTCTTGTCACAATCTATGCTGATTATATTGCC c.660
W L F T L V V S L | V L V T I Y A D Y I A p.220
. . . . . . g.18926
CCTTTATTTGACAAATTCACACCTCTGCCTGAGGGAAAGCTTAAAGAAGAAATTGAAGTA c.720
P L F D K F T P L P E G K L K E E I E V p.240
. . . . | 07 . g.28293
ATGGCAAAGAGTATTGACTTTCCTTTGACGAAGGTGTATGTTGTGGAAG | GATCTAAACGC c.780
M A K S I D F P L T K V Y V V E G | S K R p.260
. . . . . . g.28353
TCTTCCCACAGCAATGCTTATTTTTATGGCTTCTTCAAGAACAAGCGAATAGTTTTGTTT c.840
S S H S N A Y F Y G F F K N K R I V L F p.280
. . . . . . g.28413
GACACTCTACTAGAAGAGTACTCTGTACTAAACAAAGACATCCAGGAGGATTCTGGCATG c.900
D T L L E E Y S V L N K D I Q E D S G M p.300
. . . . . | 08 . g.32870
GAACCCCGCAATGAGGAAGAAGGGAACAGTGAAGAAATAAAAGCTAAAGTTAAA | AATAAG c.960
E P R N E E E G N S E E I K A K V K | N K p.320
. . . . . . g.32930
AAACAAGGATGTAAAAATGAGGAGGTACTCGCTGTACTAGGCCATGAACTGGGGCACTGG c.1020
K Q G C K N E E V L A V L G H E L G H W p.340
. . . | 09 . . g.37814
AAGTTGGGACATACAGTCAAAAATATCATTATTAGCCAG | ATGAATTCTTTCCTGTGTTTT c.1080
K L G H T V K N I I I S Q | M N S F L C F p.360
. . . . . . g.37874
TTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTTTTATGAT c.1140
F L F A V L I G R K E L F A A F G F Y D p.380
. . . . . . g.37934
AGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAAT c.1200
S Q P T L I G L L I I F Q F I F S P Y N p.400
| 10 . . . . . . g.39441
GAG | GTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCA c.1260
E | V L S F C L T V L S R R F E F Q A D A p.420
. . . . . . g.39501
TTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAA c.1320
F A K K L G K A K D L Y S A L I K L N K p.440
. . . . . . g.39561
GATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCT c.1380
D N L G F P V S D W L F S M W H Y S H P p.460
. . . . g.39609
CCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGA c.1428
P L L E R L Q A L K T M K Q H X p.475
. . . . . . g.39669
gatgtccaggatctgtgactgaagacatttctgattatttctgtcctggcagcatgttcc c.*60
. . . . . . g.39729
agctcttgatgtttttaaacttttttttagaagaaaaattaagtacagaaaagcccagat c.*120
. . . . . . g.39789
ttaaatacatttaatatgtcattttaaaaatgattttaataattcatttcttaaaacact c.*180
. . . . . . g.39849
gaatgaattttgaagcttaatgtttttaaaggcatagttttatctttgacatctaattta c.*240
. . . . . . g.39909
ccatcaagttgtaaaattatttggaaaaatacagaactcgttttatttgtatacttatat c.*300
. . . . . . g.39969
ggaatctgcatgtgaggtgtttgagggcatatgtttgaaagagggagcatcaccacagga c.*360
. . . . . . g.40029
atcctttctgtgaggtggaaacagtggtcctgaatcattgtgctcacacctaacttgaaa c.*420
. . . . . . g.40089
tctggtcttactttcatgctgttatgatttcacctggtgaatcagtgttttaaataagaa c.*480
. . . . . . g.40149
aggtaatagttggtaaggccaatgttatttaaatgaaagtagttagaaaaatgctctcct c.*540
. . . . . . g.40209
attctaccaaatttttaatttctttcttccctttcttgctacacagtgatcaagagtttc c.*600
. . . . . . g.40269
tcatagtgctttgaagttagaaattatgtataggatattttaaatcattgagttttgtgg c.*660
. . . . . . g.40329
ggtttttttgtttgtttgtttcttttgttttttggaaaatccgtgtctttatcttttttt c.*720
. . . . . . g.40389
cccacgtggtagatatgatcccattggaggtaaattgtagcttcttctcattcatgcagt c.*780
. . . . . . g.40449
aaataatacatcctttcactcagcagagatggccatattaaacacgttttgctatgttaa c.*840
. . . . . . g.40509
aagtggcagaacaggaaagacgaattaaaaataacattttttaagcgacataaggatgaa c.*900
. . . . . . g.40569
atactgatgaatctctgtgacattacagggaaaaaaatatagttttctatctctttcaag c.*960
. . . . . . g.40629
ggcagaagagttttcatttttatttttgtaattttatctgtaagtcataaatattactta c.*1020
. . . . . . g.40689
atcaggcctgattctacttttgaaaattacagttcttgaaatgcagataatgtttacttt c.*1080
. . . . . . g.40749
gaaaacaaatgtcatgaatgatttccagtttttaaagctatatgtttcactgcttcatat c.*1140
. . . . . . g.40809
ctctgtccactttctgaatgagaacttattttgtgcctagagctctcactcactgataat c.*1200
. . . . . . g.40869
gcttattaccttctgggcatttattccaaagtgggatcaactgtacgcctttggtatctg c.*1260
. . . . . . g.40929
accataaagtcttttgctccgctgacatttgggtgatgtcttcacatggaaatataataa c.*1320
. . . . . . g.40989
aaataaaaatctagtttaatactgcattatttattttcctaaggctaaagaggagcagtc c.*1380
. . . . . . g.41049
ctatgcttttattcagcatcctttatctgtgacttcatgctctgataactgcctttcctt c.*1440
. . . . . . g.41109
ccttctgtgcctttgaatacaaatttcagttctgcaaaagtgaaacattaaacattgcca c.*1500
. g.41124
acgcaaatgtatgta c.*1515
(downstream sequence)
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