(used for variant description)
(last modified December 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005857.4 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_005857.4.
(upstream sequence)
. . . . g.5042
gcttttcctgtagaaactaggagggactagggagagtctgca c.-181
. . . . . . g.5102
aggggaagagtgtgtctgtgacactgccagcagcgcgcagagggagggatgggggcgggt c.-121
. . . . . . g.5162
atcggcgtaggggccctcggaaagaacggatattgctgtgacaccgcggggacgctctga c.-61
. . . . . . g.5222
agggacgagtgtcggtgtggcaccggtgcacgctgaaggagccggcggaaccgggtggcc c.-1
. . . . . . g.5282
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.5342
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.7846
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.7906
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.14766
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.15372
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.15432
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.16931
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.16991
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.17051
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.18877
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.18937
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.28304
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.28364
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.28424
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.32881
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.32941
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.37825
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.37885
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.37945
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.39452
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.39512
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.39572
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.39620
CCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGA c.1428
P L L E R L Q A L K T M K Q H X p.475
. . . . . . g.39680
gatgtccaggatctgtgactgaagacatttctgattatttctgtcctggcagcatgttcc c.*60
. . . . . . g.39740
agctcttgatgtttttaaacttttttttagaagaaaaattaagtacagaaaagcccagat c.*120
. . . . . . g.39800
ttaaatacatttaatatgtcattttaaaaatgattttaataattcatttcttaaaacact c.*180
. . . . . . g.39860
gaatgaattttgaagcttaatgtttttaaaggcatagttttatctttgacatctaattta c.*240
. . . . . . g.39920
ccatcaagttgtaaaattatttggaaaaatacagaactcgttttatttgtatacttatat c.*300
. . . . . . g.39980
ggaatctgcatgtgaggtgtttgagggcatatgtttgaaagagggagcatcaccacagga c.*360
. . . . . . g.40040
atcctttctgtgaggtggaaacagtggtcctgaatcattgtgctcacacctaacttgaaa c.*420
. . . . . . g.40100
tctggtcttactttcatgctgttatgatttcacctggtgaatcagtgttttaaataagaa c.*480
. . . . . . g.40160
aggtaatagttggtaaggccaatgttatttaaatgaaagtagttagaaaaatgctctcct c.*540
. . . . . . g.40220
attctaccaaatttttaatttctttcttccctttcttgctacacagtgatcaagagtttc c.*600
. . . . . . g.40280
tcatagtgctttgaagttagaaattatgtataggatattttaaatcattgagttttgtgg c.*660
. . . . . . g.40340
ggtttttttgtttgtttgtttcttttgttttttggaaaatccgtgtctttatcttttttt c.*720
. . . . . . g.40400
cccacgtggtagatatgatcccattggaggtaaattgtagcttcttctcattcatgcagt c.*780
. . . . . . g.40460
aaataatacatcctttcactcagcagagatggccatattaaacacgttttgctatgttaa c.*840
. . . . . . g.40520
aagtggcagaacaggaaagacgaattaaaaataacattttttaagcgacataaggatgaa c.*900
. . . . . . g.40580
atactgatgaatctctgtgacattacagggaaaaaaatatagttttctatctctttcaag c.*960
. . . . . . g.40640
ggcagaagagttttcatttttatttttgtaattttatctgtaagtcataaatattactta c.*1020
. . . . . . g.40700
atcaggcctgattctacttttgaaaattacagttcttgaaatgcagataatgtttacttt c.*1080
. . . . . . g.40760
gaaaacaaatgtcatgaatgatttccagtttttaaagctatatgtttcactgcttcatat c.*1140
. . . . . . g.40820
ctctgtccactttctgaatgagaacttattttgtgcctagagctctcactcactgataat c.*1200
. . . . . . g.40880
gcttattaccttctgggcatttattccaaagtgggatcaactgtacgcctttggtatctg c.*1260
. . . . . . g.40940
accataaagtcttttgctccgctgacatttgggtgatgtcttcacatggaaatataataa c.*1320
. . . . . . g.41000
aaataaaaatctagtttaatactgcattatttattttcctaaggctaaagaggagcagtc c.*1380
. . . . . . g.41060
ctatgcttttattcagcatcctttatctgtgacttcatgctctgataactgcctttcctt c.*1440
. . . . . . g.41120
ccttctgtgcctttgaatacaaatttcagttctgcaaaagtgaaacattaaacattgcca c.*1500
. g.41135
acgcaaatgtatgta c.*1515
(downstream sequence)
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