(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_021120.3 in the DLG3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering DLG3 transcript NM_021120.3.
(upstream sequence)
. . . . g.5047
ggggaccagagcagaagcggtcctcacagcacccattctctgcttga c.-301
. . . . . . g.5107
gctcccgcttcttctttgccgctgggcctcggcccagaagccacgacgggcgacacggag c.-241
. . . . . . g.5167
ccgccagtgctggagggggagccgtgggtgcggggcagcgtgggggccgaggccccggga c.-181
. . . . . . g.5227
cgcccgcccggccccaggccccgctcagcccgggcgcccccacgggtgccccccccttct c.-121
. . . . . . g.5287
tggtccgagcagtgtgagtgtgccagggagcccggcggcggcggcggcggtggtggcggc c.-61
. . . . . . g.5347
ggtggcggcggcgtggaatccggcgtgggctggggggtccgagccgcggggggcagtgcc c.-1
. . . . . . g.5407
ATGCACAAGCACCAGCACTGCTGTAAGTGCCCTGAGTGCTATGAGGTGACCCGCCTGGCC c.60
M H K H Q H C C K C P E C Y E V T R L A p.20
. . . . . . g.5467
GCCCTGCGGCGCCTCGAGCCTCCGGGCTACGGCGACTGGCAAGTCCCCGACCCTTACGGG c.120
A L R R L E P P G Y G D W Q V P D P Y G p.40
. . . . . . g.5527
CCAGGTGGGGGCAACGGCGCCAGCGCGGGTTATGGGGGCTACAGCTCGCAGACCTTGCCC c.180
P G G G N G A S A G Y G G Y S S Q T L P p.60
. . . . . . g.5587
TCGCAGGCGGGGGCCACCCCCACCCCTCGCACCAAGGCCAAGCTCATCCCCACCGGCCGG c.240
S Q A G A T P T P R T K A K L I P T G R p.80
. . . . . . g.5647
GATGTGGGGCCGGTGCCTCCTAAGCCAGTCCCGGGCAAGAGCACCCCCAAACTCAACGGC c.300
D V G P V P P K P V P G K S T P K L N G p.100
. . . . . | 02. g.9061
AGCGGCCCCAGCTGGTGGCCAGAGTGCACCTGTACCAACCGGGACTGGTATGAGCAG | GTG c.360
S G P S W W P E C T C T N R D W Y E Q | V p.120
. . . . | 03 . g.9516
AATGGCAGTGATGGCATGTTCAAATATGAGGAAATCGTACTTGAGAGG | GGCAACTCTGGC c.420
N G S D G M F K Y E E I V L E R | G N S G p.140
. . . . . . g.9576
CTGGGCTTCAGTATCGCAGGTGGCATCGACAATCCCCATGTCCCTGATGACCCTGGCATC c.480
L G F S I A G G I D N P H V P D D P G I p.160
. . . . . | 04 . g.9842
TTTATTACCAAGATTATCCCTGGTGGAGCAGCTGCCATGGATGGGAGGCTGGG | GGTGAAT c.540
F I T K I I P G G A A A M D G R L G | V N p.180
. . . . . . g.9902
GACTGTGTGCTGCGGGTGAATGAGGTGGACGTGTCGGAGGTGGTACACAGCCGGGCGGTG c.600
D C V L R V N E V D V S E V V H S R A V p.200
. . . . . . g.9962
GAGGCGCTGAAGGAGGCAGGCCCTGTGGTGCGATTGGTGGTGCGGAGGCGACAGCCTCCA c.660
E A L K E A G P V V R L V V R R R Q P P p.220
. . . . | 05 . . g.10331
CCCGAGACCATCATGGAGGTCAACCTGCTCAAAGGGCCCAAAG | GCCTGGGTTTCAGCATT c.720
P E T I M E V N L L K G P K G | L G F S I p.240
. . . . . . g.10391
GCTGGGGGTATTGGCAACCAGCACATCCCAGGAGACAACAGCATCTACATCACCAAGATC c.780
A G G I G N Q H I P G D N S I Y I T K I p.260
. . . . . . g.10451
ATTGAGGGGGGTGCTGCTCAGAAGGATGGACGCCTACAGATTGGGGACCGGCTGCTGGCG c.840
I E G G A A Q K D G R L Q I G D R L L A p.280
| 06 . . . . . . g.10844
| GTGAACAACACCAATCTGCAGGATGTGAGGCACGAGGAAGCTGTGGCCTCACTGAAGAAC c.900
| V N N T N L Q D V R H E E A V A S L K N p.300
. . . . . . g.10904
ACATCTGATATGGTGTATTTGAAGGTGGCCAAGCCAGGCAGCCTCCACCTCAACGACATG c.960
T S D M V Y L K V A K P G S L H L N D M p.320
. . | 07 . . . . g.12047
TACGCTCCCCCTGACTACGCCAGCA | CTTTTACTGCCTTGGCTGACAACCACATAAGCCAT c.1020
Y A P P D Y A S T | F T A L A D N H I S H p.340
. . . . . . g.12107
AATTCCAGCCTGGGTTATCTCGGGGCTGTGGAGAGCAAGGTCAGCTACCCTGCTCCTCCT c.1080
N S S L G Y L G A V E S K V S Y P A P P p.360
. . . . . . g.12167
CAGGTTCCCCCCACCCGCTACTCTCCTATTCCCAGGCACATGCTGGCTGAGGAGGACTTC c.1140
Q V P P T R Y S P I P R H M L A E E D F p.380
| 08 . . . . . . g.13837
ACCAG | AGAGCCTCGCAAGATCATCCTGCACAAAGGCTCCACAGGCCTGGGCTTCAACATC c.1200
T R | E P R K I I L H K G S T G L G F N I p.400
. . . . . . g.13897
GTAGGAGGAGAGGATGGAGAAGGCATTTTTGTCTCCTTCATCCTGGCAGGAGGCCCAGCT c.1260
V G G E D G E G I F V S F I L A G G P A p.420
. . . . | 09 . . g.14377
GACCTGAGTGGGGAGCTGCGCAGGGGAGACCGGATCTTATCG | GTGAATGGAGTGAATCTG c.1320
D L S G E L R R G D R I L S | V N G V N L p.440
. . . . . . g.14437
AGGAATGCAACTCATGAGCAGGCTGCAGCTGCTCTGAAACGGGCCGGCCAGTCAGTCACC c.1380
R N A T H E Q A A A A L K R A G Q S V T p.460
. . | 10 . . . . g.39330
ATTGTGGCCCAGTACAGACCTGAAG | AATACAGTCGCTTTGAATCGAAGATACATGACTTA c.1440
I V A Q Y R P E E | Y S R F E S K I H D L p.480
. . . . . . g.39390
CGAGAACAAATGATGAACAGCAGCATGAGCTCTGGGTCTGGGTCCCTCCGAACAAGTGAA c.1500
R E Q M M N S S M S S G S G S L R T S E p.500
. . | 11 . . . . g.52292
AAGAGGTCCTTGTATGTCAG | GGCCCTGTTTGATTATGATCGGACTCGGGACAGCTGCCTG c.1560
K R S L Y V R | A L F D Y D R T R D S C L p.520
. . . . . . g.52352
CCAAGCCAGGGGCTCAGCTTCTCTTATGGTGACATTCTGCATGTCATTAATGCCTCTGAT c.1620
P S Q G L S F S Y G D I L H V I N A S D p.540
. . . . . . g.52412
GATGAGTGGTGGCAGGCAAGGCTGGTGACCCCACACGGAGAAAGTGAGCAGATCGGTGTG c.1680
D E W W Q A R L V T P H G E S E Q I G V p.560
. | 12. . . . . g.52709
ATCCCCAGTAAGAAGAG | GGTGGAAAAGAAAGAAAGAGCTCGATTGAAAACTGTGAAGTTC c.1740
I P S K K R | V E K K E R A R L K T V K F p.580
. . . | 13 . . . g.55580
CATGCCAGGACGGGGATGATTGAGTCTAACAGG | GACTTCCCGGGGTTAAGTGACGATTAT c.1800
H A R T G M I E S N R | D F P G L S D D Y p.600
. | 14 . . . . g.58706
TATGGAGCAAAGAACCTGA | AAGGACAAGAGGATGCTATTTTGTCATATGAGCCAGTGACA c.1860
Y G A K N L K | G Q E D A I L S Y E P V T p.620
. | 15 . . . . . g.59371
CGGCAAGAAA | TTCACTATGCAAGGCCTGTGATCATCCTGGGCCCAATGAAGGACCGAGTC c.1920
R Q E I | H Y A R P V I I L G P M K D R V p.640
. . . . . | 16 . g.60030
AATGATGACCTGATCTCCGAATTTCCACATAAATTTGGATCCTGTGTGCCAC | ATACTACC c.1980
N D D L I S E F P H K F G S C V P H | T T p.660
. . . . . . g.60090
CGGCCTCGACGTGATAATGAGGTGGATGGACAAGACTACCACTTTGTGGTGTCCCGAGAA c.2040
R P R R D N E V D G Q D Y H F V V S R E p.680
. . . . . . g.60150
CAAATGGAGAAAGATATTCAGGACAACAAGTTCATCGAGGCGGGCCAATTTAATGATAAC c.2100
Q M E K D I Q D N K F I E A G Q F N D N p.700
. . . . | 17 . . g.60631
CTCTATGGGACCAGCATCCAGTCAGTGCGGGCAGTTGCAGAGAGG | GGCAAGCACTGCATC c.2160
L Y G T S I Q S V R A V A E R | G K H C I p.720
. . . . . . g.60691
TTAGATGTTTCCGGCAATGCTATCAAGAGACTGCAGCAAGCACAACTTTACCCCATTGCC c.2220
L D V S G N A I K R L Q Q A Q L Y P I A p.740
. . . | 18 . . . g.61068
ATTTTCATCAAGCCCAAGTCCATTGAAGCCCTTAT | GGAAATGAACCGAAGGCAGACATAT c.2280
I F I K P K S I E A L M | E M N R R Q T Y p.760
. . . . . . g.61128
GAACAAGCAAATAAGATCTATGACAAAGCCATGAAACTGGAGCAGGAATTTGGAGAGTAC c.2340
E Q A N K I Y D K A M K L E Q E F G E Y p.780
| 19. . . . . . g.62361
TTTACAG | CCATTGTACAGGGTGACTCACTGGAAGAGATTTATAACAAAATCAAACAAATC c.2400
F T A | I V Q G D S L E E I Y N K I K Q I p.800
. . . . . g.62415
ATTGAGGACCAGTCTGGGCACTACATTTGGGTCCCATCCCCTGAAAAACTCTGA c.2454
I E D Q S G H Y I W V P S P E K L X p.817
. . . . . . g.62475
agaatcccctccaaccattctcttgtgaacagaagaaatcaagtccctcttccctcctcc c.*60
. . . . . . g.62535
ctcttcattcctgtccccatggggagaacaaatgctactgttcttgtccccttttttaga c.*120
. . . . . . g.62595
tatgtcaaaaaaaattaagttttctagtcctgttctttttttttttttaagtttttgttt c.*180
. . . . . . g.62655
gtttcagtttattttttgggatgatgccatctcattcatcatgtgactgtgcccattcct c.*240
. . . . . . g.62715
gcatggacctttcccaagcgctagcacaggtgcaaaatccatcagagccattgttttcat c.*300
. . . . . . g.62775
aaaaaccaagcagaagtgaagagaaaagaggaggactgatggaaagacagactctggaca c.*360
. . . . . . g.62835
gctgcacggcttgtgaagtgagctaaatgcaccacatgatgagatgctcctgggcatttc c.*420
. . . . . . g.62895
tccctatctgtactgctgtcttgcagctctgaacggtgcaacgtaatggcgacagaaagt c.*480
. . . . . . g.62955
atcttatttatatatagatatatatatgtaatttatataaaatatatagaaattattata c.*540
. . . . . . g.63015
tatatatattatacactctcatataatatatatatattcacacacatttgggttagaaaa c.*600
. . . . . . g.63075
tctatggagacttcatcaatggtactatgttattagagaaatgctttaattttcatattc c.*660
. . . . . . g.63135
caatcagatggcatcttctatcccagctggttgggaagggattgaagatggtagcaagtg c.*720
. . . . . . g.63195
ctgcactaagggcactcgcatttggtcattctcttgagagctaggaggggtcagcctgag c.*780
. . . . . . g.63255
gccggagaggaagggcttttgcctggggtgagagggtgagagacttgacctgaaagcagc c.*840
. . . . . . g.63315
tgctgcccctgaggtgcagccagagtcctgtgtgcggacagagagaatggctaatgatgc c.*900
. . . . . . g.63375
tccgcgtggaattgcctattgttttatgccacctgatgtgtctgcatgagaggtttcctt c.*960
. . . . . . g.63435
tttgttcctttttaagctgctgttaaaccaaaaccatgttgtgctactgtgtcagccttt c.*1020
. . . . . . g.63495
tcattattgcaaattttacttttactatttaagtgaatgcatagaatccaatttgccaag c.*1080
. . . . . . g.63555
gttctaaaggcttatgaggtcctgaaggagccaggccttgtgatggagtaggtgacacag c.*1140
. . . . . . g.63615
gcctggttgtcctgtcagcagaagggaaagcaggggctgggctgagaggaggacacggag c.*1200
. . . . . . g.63675
ggctctgctgaggttccttcctgggttccaccaacagggacagggagtcacttgccttcc c.*1260
. . . . . . g.63735
agttctgtgctgggatggcgggacagcacttggcttgcttggccagctgcgtcatgagtt c.*1320
. . . . . . g.63795
tgatttggtttttttttttttgcagctgcttcatatgctctgctccagcccctccccaac c.*1380
. . . . . . g.63855
agctggtagcttatggtttcttcaagaggaaagtagactttatgctgtacatttgagctg c.*1440
. . . . . . g.63915
tagagctaagattcgcttactggtgagctgtgaaaccttgttgctttttcccagagtctg c.*1500
. . . . . . g.63975
atggcagtgactgtgatcaagggaatcttcaccgccacaagtgcaggcagcaggtgtggt c.*1560
. . . . . . g.64035
tcaggtccccccccaccccactgtgctcctttgaagccaacgtgcctccctcgcctccat c.*1620
. . . . . . g.64095
actggagggacgacgcaggggagaacagagaagtgcttggccctaggattgaggcacttg c.*1680
. . . . . . g.64155
tttcctagcccgctgggttagggctggtgcaagcgaggcaatgttgaggatgctttaagc c.*1740
. . . . . . g.64215
actaccagccgaatccgggaactctgttaacagttgtccaaccagcagaatgaggctaac c.*1800
. . . . . . g.64275
tgtataaagcatgggacccaggatgaggataaggaaaggacagcggctttccctgggcag c.*1860
. . . . . . g.64335
tacaatggcttgaaggcaaaaagggataaagtgacagccgactgtgactctggtgaggag c.*1920
. . . . . . g.64395
gggtgagcagggaggttgattctctgatgttaactaagtggcaaagtctcaaccgtgctc c.*1980
. . . . . . g.64455
agccctccccctcccagggaagagaaacaaagattcaaagtaagcatgatactagtgggt c.*2040
. . . . . . g.64515
ttaccagtgtttcttccaaggagacatatattttttaataaacgatagttgcaatgaact c.*2100
. . . . . . g.64575
gtggctcagagaccttcttaaagtagttgagaagggagggcgtgggcaaagcagtgggaa c.*2160
. . . . . . g.64635
gaacatcccaaacttttgggggccagagggctctctccttagtgatgatcagctagccga c.*2220
. . . . . . g.64695
gctgggccgtcctggggatcggtacagctccctggggtggtgacaggccctttgtgaaag c.*2280
. . . . . . g.64755
ttgtgtgcttggtcttccaccccagccccagacactgcttcaaatagcaccaaccagatg c.*2340
. . . . . . g.64815
ggagtccacatctgtggtggcaaaatgctgacattttcccaagaggtacacaaggtggga c.*2400
. . . . . . g.64875
gaggcctgctgtagcagaggtgtgtgttagagaaagcaggggcctgatttagtagcagag c.*2460
. . . . . . g.64935
aactgggtgagaaaaatggccagagaaagtgacctgccagctaccagtgtttccgaaaat c.*2520
. . . . . . g.64995
gagggtgggatgggcccatttgcagagcaggacagcagtcatccccatagccctctgagg c.*2580
. . . . . . g.65055
aggggagggatgcttagagcaggcagttctggcagttctgacgtggcaggtgccattgca c.*2640
. . . . . . g.65115
acttgtgcggaggagtcttaggaagtgctgtcataattcataaggtcaagagcaacatct c.*2700
. . . . . . g.65175
ggatgaatgagccacctgaaatgtgtgtgggctgagccacaggaagggtgagtcctcttg c.*2760
. . . . . . g.65235
cttgtggtgctttatggtgtgcaggttgcttgctttcccacattctctcatttgcttgaa c.*2820
. . . . . . g.65295
ggcagcctaacaaaagggagtccccaaagagctccatgagagcttaagaaaattcatctc c.*2880
. . . . . . g.65355
ctgaggacaaagagaacaaagatctgtcctgtggtcacactgttgaggctctgtcttcac c.*2940
. . . . . . g.65415
agctgatgttctcctagtggaggtacagctgaagaacattcagccccagcacgagaagat c.*3000
. . . . . . g.65475
acagagcaacttggaaaccccaaagggagacacacccttaacactgccgtgctgtgctgt c.*3060
. . . . . . g.65535
gccgtgtcctgaaggaggagagagccctatctcctcctggttttgttgctgacattgcag c.*3120
. . . . . . g.65595
ctgatcatgccttgactccttcatctctaacagaggaagaactgtattatcaaaccttat c.*3180
. . . . g.65636
ggtctacccatgaataaataaaatatttgttcaagcacaaa c.*3221
(downstream sequence)
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