(used for variant description)
(last modified May 3, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_012082.3 in the ZFPM2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011723.1, covering ZFPM2 transcript NM_012082.3.
(upstream sequence)
. . g.5023
cagcggcagcagccgccgccgag c.-1
. . . . | 02 . . g.105245
ATGTCCCGGCGAAAGCAAAGCAAACCCCGGCAGATCAAAC | GGCCGCTTGAAGATGCCATT c.60
M S R R K Q S K P R Q I K R | P L E D A I p.20
. . . . . . g.105305
GAAGATGAGGAAGAAGAATGTCCATCAGAGGAAACAGACATCATCTCCAAAGGAGACTTT c.120
E D E E E E C P S E E T D I I S K G D F p.40
. . . . . . g.105365
CCATTGGAGGAAAGCTTTTCCACAGAATTTGGGCCTGAAAATCTGAGCTGCGAAGAAGTG c.180
P L E E S F S T E F G P E N L S C E E V p.60
. | 03 . . . . g.130402
GAATACTTTTGTAACAAAG | GTGATGATGAAGGAATCCAGGAGACAGCAGAATCAGATGGG c.240
E Y F C N K G | D D E G I Q E T A E S D G p.80
. . . . . . g.130462
GACACACAGTCAGAGAAACCGGGGCAACCTGGAGTTGAGACAGACGACTGGGATGGACCA c.300
D T Q S E K P G Q P G V E T D D W D G P p.100
| 04 . . . . . . g.247503
G | GAGAGCTGGAGGTGTTTCAGAAAGATGGGGAACGAAAAATTCAGAGTCGACAGCAACTT c.360
G | E L E V F Q K D G E R K I Q S R Q Q L p.120
. . . . . . g.247563
CCAGTGGGAACAACCTGGGGGCCGTTTCCTGGGAAGATGGACTTGAATAATAATTCTTTG c.420
P V G T T W G P F P G K M D L N N N S L p.140
| 05 . . . . . . g.320387
| AAGACAAAGGCTCAGGTCCCAATGGTGCTGACTGCTGGTCCCAAGTGGTTGCTGGATGTG c.480
| K T K A Q V P M V L T A G P K W L L D V p.160
. . . . . | 06 . g.474807
ACTTGGCAAGGAGTGGAAGACAACAAAAACAACTGCATTGTGTACAGCAAAG | GGGGTCAG c.540
T W Q G V E D N K N N C I V Y S K G | G Q p.180
. . . . . . g.474867
CTTTGGTGTACAACTACGAAGGCCATCTCTGAGGGTGAAGAGCTAATTGCCTTTGTGGTG c.600
L W C T T T K A I S E G E E L I A F V V p.200
. . . . . . g.474927
GATTTTGACTCAAGGCTACAAGCTGCCAGTCAGATGACTCTCACAGAAGGGATGTACCCT c.660
D F D S R L Q A A S Q M T L T E G M Y P p.220
. . . . . . g.474987
GCACGCCTGCTGGACTCAATTCAGCTGCTTCCTCAGCAAGCTGCCATGGCTTCTATTTTG c.720
A R L L D S I Q L L P Q Q A A M A S I L p.240
. | 07 . . . . g.484846
CCCACAGCTATTGTCAATA | AGGATATATTCCCTTGCAAGTCCTGTGGCATCTGGTATCGG c.780
P T A I V N K | D I F P C K S C G I W Y R p.260
. . . . . . g.484906
AGTGAGCGGAATCTGCAGGCCCATTTGATGTACTACTGCAGTGGGAGGCAAAGAGAAGCT c.840
S E R N L Q A H L M Y Y C S G R Q R E A p.280
. . . . . . g.484966
GCTCCGGTGTCAGAGGAAAATGAAGACAGTGCCCATCAGATTTCCAGCCTGTGCCCCTTC c.900
A P V S E E N E D S A H Q I S S L C P F p.300
. . . . . . g.485026
CCACAGTGCACCAAGAGCTTTTCAAATGCTCGAGCTCTAGAAATGCACCTGAATTCACAC c.960
P Q C T K S F S N A R A L E M H L N S H p.320
| 08 . . . . . . g.487184
AGTG | GAGTGAAAATGGAAGAATTCCTGCCCCCTGGTGCTAGTCTAAAATGCACCGTCTGT c.1020
S G | V K M E E F L P P G A S L K C T V C p.340
. . . . . . g.487244
AGCTACACTGCTGATTCCGTGATCAACTTTCACCAACACCTGTTCTCCCATCTCACTCAA c.1080
S Y T A D S V I N F H Q H L F S H L T Q p.360
. . . . . . g.487304
GCTGCCTTCCGATGTAATCACTGCCATTTCGGCTTCCAGACTCAGAGGGAGTTATTGCAG c.1140
A A F R C N H C H F G F Q T Q R E L L Q p.380
. . . . . . g.487364
CACCAGGAGCTCCATGTCCCTAGCGGCAAACTTCCCAGAGAAAGTGACATGGAACACTCT c.1200
H Q E L H V P S G K L P R E S D M E H S p.400
. . . . . . g.487424
CCAAGTGCAACTGAAGACAGCTTACAGCCAGCCACAGACTTATTGACCAGAAGCGAACTT c.1260
P S A T E D S L Q P A T D L L T R S E L p.420
. . . . . . g.487484
CCCCAGAGCCAAAAGGCCATGCAGACTAAAGATGCGAGCTCTGACACAGAGCTGGACAAG c.1320
P Q S Q K A M Q T K D A S S D T E L D K p.440
. . . . . . g.487544
TGTGAGAAAAAGACTCAGCTCTTTCTCACGAACCAGAGACCAGAGATACAGCCTACAACA c.1380
C E K K T Q L F L T N Q R P E I Q P T T p.460
. . . . . . g.487604
AATAAACAAAGCTTTTCTTACACAAAAATAAAGTCTGAGCCCTCTAGCCCAAGACTTGCC c.1440
N K Q S F S Y T K I K S E P S S P R L A p.480
. . . . . . g.487664
TCATCTCCAGTTCAGCCTAATATTGGGCCTTCTTTCCCTGTGGGCCCTTTCCTATCTCAG c.1500
S S P V Q P N I G P S F P V G P F L S Q p.500
. . . . . . g.487724
TTTTCTTTCCCCCAAGATATCACCATGGTCCCTCAAGCTTCAGAGATCTTAGCTAAGATG c.1560
F S F P Q D I T M V P Q A S E I L A K M p.520
. . . . . . g.487784
TCTGAACTGGTGCATCGGCGACTGAGGCATGGCAGTAGTAGCTACCCTCCCGTCATTTAC c.1620
S E L V H R R L R H G S S S Y P P V I Y p.540
. . . . . . g.487844
AGCCCTTTGATGCCCAAGGGGGCTACTTGTTTTGAGTGTAACATAACATTCAATAATTTG c.1680
S P L M P K G A T C F E C N I T F N N L p.560
. . . . . . g.487904
GATAATTATCTAGTGCACAAAAAGCATTATTGCAGCAGCCGATGGCAGCAGATGGCTAAG c.1740
D N Y L V H K K H Y C S S R W Q Q M A K p.580
. . . . . . g.487964
TCCCCAGAGTTCCCTAGTGTGTCAGAAAAGATGCCTGAAGCTTTGAGTCCCAACACTGGC c.1800
S P E F P S V S E K M P E A L S P N T G p.600
. . . . . . g.488024
CAAACCTCCATAAACCTTCTCAACCCAGCTGCTCATTCTGCTGATCCTGAGAATCCACTT c.1860
Q T S I N L L N P A A H S A D P E N P L p.620
. . . . . . g.488084
CTTCAAACATCTTGCATCAATTCTTCCACTGTCTTAGATTTAATTGGGCCAAATGGGAAG c.1920
L Q T S C I N S S T V L D L I G P N G K p.640
. . . . . . g.488144
GGCCATGACAAGGACTTTTCCACTCAAACTAAGAAGCTCTCCACCTCCAGTAACAATGAT c.1980
G H D K D F S T Q T K K L S T S S N N D p.660
. . . . . . g.488204
GACAAAATTAATGGAAAACCTGTTGATGTGAAAAATCCCAGTGTCCCCTTAGTGGATGGG c.2040
D K I N G K P V D V K N P S V P L V D G p.680
. . . . . . g.488264
GAAAGTGACCCAAATAAGACTACCTGTGAAGCTTGCAACATTACCTTCAGCCGGCACGAA c.2100
E S D P N K T T C E A C N I T F S R H E p.700
. . . . . . g.488324
ACATACATGGTCCACAAACAGTATTACTGTGCTACACGCCACGACCCTCCACTGAAGAGG c.2160
T Y M V H K Q Y Y C A T R H D P P L K R p.720
. . . . . . g.488384
TCTGCTTCCAACAAAGTGCCTGCCATGCAGAGAACCATGCGCACACGCAAGCGCAGAAAG c.2220
S A S N K V P A M Q R T M R T R K R R K p.740
. . . . . . g.488444
ATGTATGAGATGTGCCTACCTGAGCAGGAACAAAGGCCTCCACTGGTTCAGCAGAGATTT c.2280
M Y E M C L P E Q E Q R P P L V Q Q R F p.760
. . . . . . g.488504
CTTGACGTAGCCAACCTCAATAATCCTTGTACCTCCACTCAAGAACCCACAGAAGGGCTA c.2340
L D V A N L N N P C T S T Q E P T E G L p.780
. . . . . . g.488564
GGAGAGTGCTACCACCCAAGATGTGATATCTTTCCAGGAATTGTCTCTAAACACTTGGAA c.2400
G E C Y H P R C D I F P G I V S K H L E p.800
. . . . . . g.488624
ACTTCTCTGACGATCAACAAGTGTGTTCCAGTTTCCAAATGTGATACTACTCATTCCAGT c.2460
T S L T I N K C V P V S K C D T T H S S p.820
. . . . . . g.488684
GTTTCCTGCCTAGAGATGGACGTGCCCATAGATCTCAGCAAAAAGTGTTTATCTCAGTCT c.2520
V S C L E M D V P I D L S K K C L S Q S p.840
. . . . . . g.488744
GAGCGGACGACCACGTCTCCCAAAAGGCTGCTGGACTATCACGAGTGCACTGTGTGCAAG c.2580
E R T T T S P K R L L D Y H E C T V C K p.860
. . . . . . g.488804
ATCAGTTTCAATAAGGTAGAAAACTATCTGGCCCACAAGCAGAATTTCTGCCCGGTTACT c.2640
I S F N K V E N Y L A H K Q N F C P V T p.880
. . . . . . g.488864
GCACATCAGCGTAATGACCTGGGTCAACTGGACGGCAAAGTGTTTCCGAATCCAGAAAGC c.2700
A H Q R N D L G Q L D G K V F P N P E S p.900
. . . . . . g.488924
GAACGAAACAGCCCTGATGTCAGCTACGAAAGAAGCATAATAAAATGTGAGAAAAATGGG c.2760
E R N S P D V S Y E R S I I K C E K N G p.920
. . . . . . g.488984
AATTTGAAGCAGCCTTCCCCCAATGGAAACTTATTTTCATCCCACCTAGCAACCCTGCAA c.2820
N L K Q P S P N G N L F S S H L A T L Q p.940
. . . . . . g.489044
GGCTTGAAGGTCTTTAGTGAAGCTGCTCAGCTCATTGCTACAAAAGAAGAAAACAGACAT c.2880
G L K V F S E A A Q L I A T K E E N R H p.960
. . . . . . g.489104
TTGTTTCTTCCACAATGCCTTTACCCTGGAGCAATAAAGAAAGCAAAAGGAGCCGACCAG c.2940
L F L P Q C L Y P G A I K K A K G A D Q p.980
. . . . . . g.489164
CTTTCTCCATATTATGGAATCAAGCCAAGTGATTATATTTCTGGTTCTCTTGTCATCCAT c.3000
L S P Y Y G I K P S D Y I S G S L V I H p.1000
. . . . . . g.489224
AACACTGACATCGAGCAAAGCAGAAATGCAGAAAATGAATCTCCTAAAGGCCAGGCTTCC c.3060
N T D I E Q S R N A E N E S P K G Q A S p.1020
. . . . . . g.489284
TCAAATGGGTGTGCTGCGCTGAAGAAAGATTCTCTGCCATTGTTGCCCAAAAATCGAGGA c.3120
S N G C A A L K K D S L P L L P K N R G p.1040
. . . . . . g.489344
ATGGTAATAGTGAATGGTGGACTGAAACAAGATGAGAGACCTGCTGCCAACCCACAGCAA c.3180
M V I V N G G L K Q D E R P A A N P Q Q p.1060
. . . . . . g.489404
GAGAACATTTCCCAGAATCCTCAGCACGAAGACGACCACAAATCTCCCTCGTGGATCTCT c.3240
E N I S Q N P Q H E D D H K S P S W I S p.1080
. . . . . . g.489464
GAGAACCCATTAGCTGCCAATGAGAATGTCTCACCAGGAATTCCCTCAGCAGAGGAACAG c.3300
E N P L A A N E N V S P G I P S A E E Q p.1100
. . . . . . g.489524
TTGTCTAGTATAGCAAAAGGTGTGAATGGTTCCAGCCAGGCTCCAACCAGTGGGAAATAT c.3360
L S S I A K G V N G S S Q A P T S G K Y p.1120
. . . . . . g.489584
TGCCGGCTATGTGATATCCAGTTCAACAACCTTTCAAACTTTATAACTCACAAGAAGTTT c.3420
C R L C D I Q F N N L S N F I T H K K F p.1140
. . . g.489620
TATTGCTCATCACATGCAGCAGAACATGTCAAATGA c.3456
Y C S S H A A E H V K X p.1151
. . . . . . g.489680
actaactaaacatcagtcacctttggtatcagtgtttagtatgttgttctaaccagtcca c.*60
. . . . . . g.489740
gaaaaaaaaataagctgtttgaattacatctgggcaatcaggagataattcattatggct c.*120
. . . . . . g.489800
gagttgaagacttaaggtgtaatttcattacagtccattagtaaagtgtattattggtgc c.*180
. . . . . . g.489860
cattttcaaaaaaattaatttattttaccagcagtattcatagctgtggttatgttattt c.*240
. . . . . . g.489920
tttatttaaaaactttatattaaagtcatttgtaatgttattgtatagttattgtgtagc c.*300
. . . . . . g.489980
acatatggtttgcactgtatagtagcttttaaagaaaatagtcacaatacagaaaagcat c.*360
. . . . . . g.490040
tttagaaatagcttcaaaagcacttgtgtatcttgattttttcttatatgctgttgcaga c.*420
. . . . . . g.490100
tatatgtatatgctaaaatataacttgcaaagatgttctaaatacacatgctataagttc c.*480
. . . . . . g.490160
gccttaagatttcaattcttggataatcaggctctgtttgcactttatattttagcagat c.*540
. . . . . . g.490220
acagtctcttagtcactaggctttgcatttgtatgtagctgtatgtttccgtccattttc c.*600
. . . . . . g.490280
ttaatcctgaacctgtatgttaaatgaagatggcaatttttttcttgtatagtacttgta c.*660
. . . . . . g.490340
ttttctttcgctgatgcagctctgtctcaatttttaaacctttgctgttaaatgcaatac c.*720
. . . . . . g.490400
tttataaagaatgaacaaaattactggaagcagtattgtaagtaatgaggtagtattaat c.*780
. . . . . . g.490460
cagttttatcttttgaaaggcacagtctaaatcgaaaccctaaactcaatgctgcaagta c.*840
. . . . . . g.490520
tgaatttaattcatatataagatctatttaaatataagagtagcaatactgcacctggtg c.*900
. . . . . . g.490580
atcacaaagataatgttctacttctgatagaaataatttctcaacaaatgttgttactat c.*960
. . . . g.490621
gcatgtatatggatggaataaaattccagattgttggagaa c.*1001
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21c
©2004-2019 Leiden University Medical Center