(used for variant description)
(last modified May 4, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_022095.3 in the ZNF335 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering ZNF335 transcript NM_022095.3.
(upstream sequence)
g.5003
cgc c.-121
. . . . . . g.5063
agcggaggaaagaggatggcgacctcgtcgatgccggagtcagagaggaacgtggctacg c.-61
. | 02 . . . . g.5784
aaagcctcgg | agtgaagttcccagaccctacgccccgctgtcaggcagcccgccgatcag c.-1
. . . . . . g.5844
ATGGAGGAGAACGAGGTGGAGAGCAGCAGCGACGCGGCCCCTGGGCCTGGCCGGCCCGAG c.60
M E E N E V E S S S D A A P G P G R P E p.20
. . . . . . g.5904
GAGCCCTCTGAGAGCGGCCTGGGTGTGGGCACCTCAGAAGCCGTGTCCGCCGACAGCAGC c.120
E P S E S G L G V G T S E A V S A D S S p.40
. . . . . . g.5964
GACGCCGCGGCCGCCCCGGGGCAGGCAGAGGCCGATGACTCTGGCGTGGGGCAAAGCTCG c.180
D A A A A P G Q A E A D D S G V G Q S S p.60
. . | 03 . . . . g.7542
GACCGCGGCAGCCGTTCTCAG | GAGGAGGTATCTGAGAGCAGCTCGAGCGCAGACCCCCTG c.240
D R G S R S Q | E E V S E S S S S A D P L p.80
. . . . . . g.7602
CCTAATAGCTACCTCCCTGATTCATCGTCTGTGTCTCATGGGCCAGTGGCAGGGGTGACA c.300
P N S Y L P D S S S V S H G P V A G V T p.100
. . . . . . g.7662
GGCGGTCCCCCAGCACTTGTGCACTCTAGTGCACTCCCAGACCCCAACATGCTGGTGTCC c.360
G G P P A L V H S S A L P D P N M L V S p.120
. . . . . . g.7722
GACTGCACAGCTTCCTCCTCGGACCTGGGCTCGGCCATCGACAAGATCATCGAGTCCACC c.420
D C T A S S S D L G S A I D K I I E S T p.140
. . | 04 . . . . g.8870
ATCGGGCCCGACCTCATCCAGA | ACTGCATCACTGTGACCAGTGCTGAGGATGGCGGGGCC c.480
I G P D L I Q N | C I T V T S A E D G G A p.160
. . . . | 05 . . g.9187
GAGACCACACGGTACCTGATCCTACAGGGCCCAGATGATG | GAGCCCCCATGACATCACCA c.540
E T T R Y L I L Q G P D D G | A P M T S P p.180
. . . . . . g.9247
ATGTCCAGTTCCACCTTGGCCCACAGCCTAGCAGCCATTGAGGCCCTGGCAGATGGCCCC c.600
M S S S T L A H S L A A I E A L A D G P p.200
. . . . . . g.9307
ACATCCACATCCACATGCCTGGAGGCACAGGGTGGGCCCAGCTCCCCGGTGCAGCTGCCC c.660
T S T S T C L E A Q G G P S S P V Q L P p.220
. . . . . . g.9367
CCAGCCTCCGGTGCCGAAGAGCCGGACCTGCAGAGCCTGGAGGCCATGATGGAGGTGGTG c.720
P A S G A E E P D L Q S L E A M M E V V p.240
. . . . . . g.9427
GTGGTGCAGCAGTTCAAATGCAAGATGTGCCAGTACCGGAGCAGCACCAAGGCCACACTG c.780
V V Q Q F K C K M C Q Y R S S T K A T L p.260
. . . | 06 . . . g.9586
CTGCGCCACATGCGGGAACGCCACTTCCGTCCAG | TAGCAGCAGCCGCAGCAGCAGCTGGT c.840
L R H M R E R H F R P V | A A A A A A A G p.280
. . . . . . g.9646
AAAAAAGGACGTCTACGGAAGTGGAGCACCTCCACCAAGAGCCAAGAGGAAGAGGGACCA c.900
K K G R L R K W S T S T K S Q E E E G P p.300
. . . . . | 07 . g.11425
GAGGAGGAGGACGATGATGACATTGTAGACGCTGGAGCCATTGATGACCTGGAGG | AGGAT c.960
E E E D D D D I V D A G A I D D L E E | D p.320
. . . . . . g.11485
AGCGACTATAATCCAGCTGAGGATGAGCCCCGAGGCCGGCAGCTTCGGCTCCAGCGCCCC c.1020
S D Y N P A E D E P R G R Q L R L Q R P p.340
. . . . . . g.11545
ACCCCCAGTACCCCAAGGCCCCGAAGGAGACCTGGCCGGCCCCGGAAGCTGCCCCGCCTG c.1080
T P S T P R P R R R P G R P R K L P R L p.360
. . | 08 . . . . g.13242
GAGATCTCAGACCTCCCAGATG | GTGTGGAAGGAGAGCCTCTAGTGAGTTCCCAGAGTGGA c.1140
E I S D L P D G | V E G E P L V S S Q S G p.380
. . . . . . g.13302
CAGAGCCCTCCAGAGCCACAGGATCCCGAGGCTCCCAGCTCCTCAGGCCCAGGACACCTG c.1200
Q S P P E P Q D P E A P S S S G P G H L p.400
. . . . . . g.13362
GTGGCCATGGGCAAGGTGAGCAGGACCCCTGTGGAAGCTGGTGTGAGCCAGTCAGATGCA c.1260
V A M G K V S R T P V E A G V S Q S D A p.420
. . . . . . g.13422
GAGAACGCAGCCCCCTCCTGCCCGGATGAGCATGACACTCTGCCCCGGCGCCGAGGTCGA c.1320
E N A A P S C P D E H D T L P R R R G R p.440
. . . | 09 . . . g.13569
CCTTCCAGGCGCTTCCTAGGCAAGAAATACCGCAA | GTACTATTACAAGTCGCCCAAACCA c.1380
P S R R F L G K K Y R K | Y Y Y K S P K P p.460
. . . . . . g.13629
CTTTTGAGGCCCTTCCTGTGCCGCATCTGTGGTTCTCGCTTTCTGTCCCACGAGGACCTG c.1440
L L R P F L C R I C G S R F L S H E D L p.480
. . . . . . g.13689
CGCTTCCACGTCAACTCCCATGAGGCTGGCGATCCCCAGCTCTTCAAGTGCCTGCAGTGC c.1500
R F H V N S H E A G D P Q L F K C L Q C p.500
. . . | 10 . . . g.15039
AGCTATCGTTCCCGCCGCTGGTCCTCGCTCAAG | GAGCACATGTTCAACCACGTGGGCAGC c.1560
S Y R S R R W S S L K | E H M F N H V G S p.520
. . . . . . g.15099
AAGCCCTACAAGTGTGACGAGTGCAGCTACACCAGTGTCTACCGGAAGGACGTCATTCGG c.1620
K P Y K C D E C S Y T S V Y R K D V I R p.540
. . | 11 . . | 12 . . g.16477
CACGCCGCTGTGCACAGCCGGGACCG | GAAGAAGAGGCCAGATCCG | ACTCCAAAGCTGAGC c.1680
H A A V H S R D R | K K R P D P | T P K L S p.560
. . . . . . g.16537
TCTTTCCCCTGCCCTGTGTGTGGCCGTGTGTACCCCATGCAGAAAAGACTCACGCAGCAC c.1740
S F P C P V C G R V Y P M Q K R L T Q H p.580
. . . . | 13 . . g.16687
ATGAAGACGCACAGCACTGAGAAGCCCCACATGTGTGACAAG | TGTGGAAAGTCCTTTAAG c.1800
M K T H S T E K P H M C D K | C G K S F K p.600
. . . . . | 14 g.16827
AAGCGCTACACCTTCAAAATGCACCTGCTCACGCACATCCAGGCTGTTGCCAACCGCAG | G c.1860
K R Y T F K M H L L T H I Q A V A N R R | p.620
. . . . . . g.16887
TTCAAGTGTGAGTTCTGTGAGTTTGTTTGTGAAGACAAGAAGGCACTGCTGAACCACCAG c.1920
F K C E F C E F V C E D K K A L L N H Q p.640
. . . . . . g.16947
TTGTCCCACGTCAGTGACAAGCCCTTCAAATGCAGCTTTTGTCCCTACCGCACCTTCCGA c.1980
L S H V S D K P F K C S F C P Y R T F R p.660
. . . . | 15 . . g.17781
GAGGACTTCTTGCTGTCCCATGTGGCTGTCAAGCACACAG | GGGCCAAGCCCTTCGCCTGT c.2040
E D F L L S H V A V K H T G | A K P F A C p.680
. . . . . . g.17841
GAGTACTGCCACTTCAGCACACGGCACAAGAAGAACCTGCGCCTGCACGTACGGTGCCGA c.2100
E Y C H F S T R H K K N L R L H V R C R p.700
. . . . . . g.17901
CACGCAAGCAGCTTCGAGGAATGGGGGAGGCGCCACCCTGAGGAGCCCCCCTCCCGCCGT c.2160
H A S S F E E W G R R H P E E P P S R R p.720
. . . . . . g.17961
CGCCCCTTCTTCTCTCTGCAGCAGATTGAGGAGCTGAAGCAGCAGCACAGTGCGGCCCCT c.2220
R P F F S L Q Q I E E L K Q Q H S A A P p.740
. . . | 16 . . . g.19293
GGACCACCTCCCAGTTCCCCAGGACCTCCTGAG | ATACCCCCAGAGGCGACAACTTTCCAG c.2280
G P P P S S P G P P E | I P P E A T T F Q p.760
. . . . . . g.19353
TCATCTGAGGCTCCCTCATTGCTCTGTTCTGACACCCTGGGCGGCGCCACCATCATCTAC c.2340
S S E A P S L L C S D T L G G A T I I Y p.780
| 17. . . . . . g.19567
CAGCAAG | GAGCTGAGGAGTCGACAGCGATGGCCACGCAGACAGCCTTGGATCTTCTGCTG c.2400
Q Q G | A E E S T A M A T Q T A L D L L L p.800
. . . . | 18 . . g.23264
AACATGAGTGCTCAGCGGGAACTGGGGGGCACAGCCCTGCAG | GTGGCTGTGGTGAAGTCG c.2460
N M S A Q R E L G G T A L Q | V A V V K S p.820
. . . . . . g.23324
GAAGATGTGGAAGCAGGGTTAGCATCCCCTGGTGGGCAGCCCTCCCCTGAAGGTGCCACT c.2520
E D V E A G L A S P G G Q P S P E G A T p.840
. . . . . . g.23384
CCACAGGTGGTCACCCTCCACGTGGCAGAGCCAGGGGGCGGTGCAGCAGCCGAGAGCCAG c.2580
P Q V V T L H V A E P G G G A A A E S Q p.860
. . . . . . g.23444
CTAGGCCCTCCTGACCTACCGCAGATCACCCTGGCACCTGGTCCATTTGGTGGGACTGGC c.2640
L G P P D L P Q I T L A P G P F G G T G p.880
. . . . . . g.23504
TACAGTGTCATCACAGCACCCCCTATGGAGGAGGGAACATCAGCTCCTGGCACACCTTAC c.2700
Y S V I T A P P M E E G T S A P G T P Y p.900
| 19 . . . . . . g.24543
AG | CGAGGAGCCCGCAGGAGAGGCAGCCCAGGCTGTGGTTGTGAGTGACACCCTAAAAGAA c.2760
S | E E P A G E A A Q A V V V S D T L K E p.920
. . . . . | 20 . g.24679
GCTGGCACCCACTACATCATGGCTACTGATGGTACCCAGTTGCACCACATTGAG | CTCACC c.2820
A G T H Y I M A T D G T Q L H H I E | L T p.940
. . . . . . g.24739
GCAGATGGCTCCATCTCCTTCCCAAGTCCAGATGCTCTGGCCTCTGGTGCCAAATGGCCC c.2880
A D G S I S F P S P D A L A S G A K W P p.960
. . . . . . g.24799
CTGCTGCAGTGTGGGGGACTGCCCAGAGACGGCCCTGAGCCCCCATCTCCAGCCAAGACC c.2940
L L Q C G G L P R D G P E P P S P A K T p.980
. . . . . . g.24859
CACTGCGTAGGGGACTCCCAGAGCTCTGCCTCCTCACCTCCTGCAACCAGCAAAGCCCTG c.3000
H C V G D S Q S S A S S P P A T S K A L p.1000
. . . . . . g.24919
GGCCTGGCAGTGCCCCCGTCACCGCCATCTGCAGCCACTGCTGCATCAAAGAAGTTTTCC c.3060
G L A V P P S P P S A A T A A S K K F S p.1020
. . . . . . g.24979
TGCAAGATCTGTGCCGAGGCCTTCCCTGGCCGAGCTGAGATGGAGAGTCACAAGCGGGCC c.3120
C K I C A E A F P G R A E M E S H K R A p.1040
. . . . . . g.25039
CACGCTGGGCCTGGTGCCTTCAAGTGCCCCGACTGCCCCTTCAGTGCCCGCCAGTGGCCC c.3180
H A G P G A F K C P D C P F S A R Q W P p.1060
| 21 . . . . . g.26650
GAGGTCCGG | GCGCACATGGCACAGCACTCAAGCCTACGGCCCCACCAGTGTAGCCAGTGC c.3240
E V R | A H M A Q H S S L R P H Q C S Q C p.1080
. . . . . . g.26710
AGCTTTGCCTCCAAGAACAAGAAGGACCTGCGTCGGCACATGCTGACTCACACAAAGGAG c.3300
S F A S K N K K D L R R H M L T H T K E p.1100
. . . | 22 . . . g.26849
AAGCCTTTTGCATGCCACCTCTGCGGGCAGCG | TTTCAACCGTAACGGGCACCTCAAGTTC c.3360
K P F A C H L C G Q R | F N R N G H L K F p.1120
. . . . . . g.26909
CACATCCAGCGGCTGCACAGTCCTGATGGGAGGAAGTCAGGAACCCCTACAGCCCGGGCC c.3420
H I Q R L H S P D G R K S G T P T A R A p.1140
. . . . . . g.26969
CCTACCCAGACCCCAACCCAGACCATCATCCTGAACAGTGATGACGAAACACTGGCCACC c.3480
P T Q T P T Q T I I L N S D D E T L A T p.1160
| 23. . . . . . g.27178
CTGCACA | CTGCACTCCAGTCCAGTCACGGGGTCCTGGGCCCAGAGCGGCTACAGCAGGCA c.3540
L H T | A L Q S S H G V L G P E R L Q Q A p.1180
. . . . . | 24 . g.27326
CTGAGCCAGGAACACATCATCGTTGCCCAGGAACAGACAGTGACCAATCAG | GAGGAAGCC c.3600
L S Q E H I I V A Q E Q T V T N Q | E E A p.1200
. . . . . . g.27386
GCCTACATCCAAGAGATCACCACGGCAGATGGCCAGACCGTACAGCACCTGGTGACCTCC c.3660
A Y I Q E I T T A D G Q T V Q H L V T S p.1220
| 25 . . . . . g.27677
GACAACCAG | GTGCAGTATATCATCTCCCAGGATGGTGTCCAGCACCTGCTCCCCCAGGAA c.3720
D N Q | V Q Y I I S Q D G V Q H L L P Q E p.1240
. . . | 26 . . . g.27823
TATGTTGTGGTCCCTGAAGGCCATCACATCCAG | GTACAGGAGGGCCAGATCACACACATC c.3780
Y V V V P E G H H I Q | V Q E G Q I T H I p.1260
. . . | 27 . . g.27964
CAGTATGAACAAGGAGCCCCGTTCCTTCAGGAGTCCCAG | ATCCAGTATGTGCCTGTGTCC c.3840
Q Y E Q G A P F L Q E S Q | I Q Y V P V S p.1280
. . . . . . g.28024
CCAGGCCAGCAGCTTGTCACACAGGCTCAACTTGAGGCTGCAGCACACTCAGCTGTCACA c.3900
P G Q Q L V T Q A Q L E A A A H S A V T p.1300
| 28 . . . . . . g.28173
G | CAGTGGCTGATGCTGCCATGGCCCAAGCCCAGGGCCTGTTTGGTACAGACGAGACAGTG c.3960
A | V A D A A M A Q A Q G L F G T D E T V p.1320
. . . . . . g.28233
CCCGAACACATTCAACAGCTGCAGCACCAGGGCATCGAGTACGACGTCATCACCCTGGCC c.4020
P E H I Q Q L Q H Q G I E Y D V I T L A p.1340
g.28242
GATGACTGA c.4029
D D X p.1342
. . . . . . g.28302
gccccgagggcccaacacagatcatggatttgcggccagctctcctgggggtagggggcc c.*60
. . . . . . g.28362
accaggactcacctccctcttcatttaggatctccagatactggatagccagcatcctct c.*120
. . . . . . g.28422
cattcccagggagccagacctgtgctgttggggttaggggcagccatgggccccagccag c.*180
. . . . . . g.28482
gacatgctgggtgccccagcctgcaggcaggctttgggagagaaatttatttttgtttgg c.*240
. . . . . . g.28542
gtggacccactggcctgtcagtctcaataaagggaccggagtccagtcctgaacagctta c.*300
(downstream sequence)
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