(used for variant description)
(last modified June 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001365.3 in the DLG4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008391.2, covering DLG4 transcript NM_001365.3.
(upstream sequence)
g.5001
a c.-1201
. . . . . . g.5061
gaccttccgcccccgagcctcagcagctgccgccccaagctcgcggccatccgagccgcc c.-1141
. . . . . . g.5121
tgcatctccgaatctctccgggcgccgctggctcgagctctgacccagctctggcgtcct c.-1081
. . . . . . g.5181
gcacgcccacgtcctggcgcccctaaccctgactcatcgtccacagtgcaccgggcggcg c.-1021
. . . . . . g.5241
gacggttgcgggccccggggcatgctgggagctgtagttccctggagcccggccctgcgt c.-961
. . . . . . g.5301
tccgctgacttagagggatctccaagcgtccctcgtctcccccaaactccttaatcccgc c.-901
. . . . . . g.5361
ccgtccgacctagagtctagtcctccgacggggtgatgggataggatgggacagaagagg c.-841
. . . . . . g.5421
aaggggcttaagtcactgcagccagagggatggaggtggactgaagggagggcttctccg c.-781
. . . . . . g.5481
gtggggttagaagggaaaagtagggaaagagaagtgtaaggtagatggcagaggcagaga c.-721
. . . . . . g.5541
catggaaagacagactctagggttcctgatgaaatctatctcggccaacacaaaagggag c.-661
. . . . . . g.5601
ggtacagtggtggggggcacccaagctagggtgtgagtaccctaagtgtattcttctgag c.-601
. . . . . . g.5661
atgtaggccattcactaactcttggaacagctacagtttcacagtaggaagaccccccca c.-541
. . . . . . g.5721
gattcactgcccctcccttagtaaagcctctgagaccttcctgaacattcccttctgtct c.-481
. . . . . . g.5781
ttgccctctgttccttccagagaccatgtgcccaggcagatggattcctcccgggcctga c.-421
. . . . . . g.5841
gaggaactgcaggaattctcctgcctcttacccgtaaaaccccaacttctctagccctag c.-361
. . . . . . g.5901
ggcaggaagtcccaaacaatttctacccctttttctgcaattctcattggggtgagagga c.-301
. . . . . . g.5961
ggcccaggaggagagagagctgggctcagcttctttttgagctgctggagccctctgtga c.-241
. . . . . . g.6021
ggaggccctctttgctggcttctcaggagagcgtggctaggttctgcctgcctatgggaa c.-181
. . . . . . g.6081
gagggggccagggtgtgtggagcaagatggtggcggtgctggtgccttgggacctggggg c.-121
. . . . . . g.6141
aatgggacagctggtcggctcagagacggcctactttactcacagctggaatttagtggg c.-61
. . . . . . g.6201
gagaagcagctcaactccaatcctggaggattagggagattaaagtgagagaagagagag c.-1
. | 02 . . . . g.6452
ATGTCCCAGAGACCAAGAG | CTCCCAGGTCAGCCCTCTGGCTCCTGGCACCCCCACTGCTG c.60
M S Q R P R A | P R S A L W L L A P P L L p.20
. . . . . | 03 g.6771
CGGTGGGCACCCCCACTCCTCACAGTGCTGCATAGCGACCTCTTCCAGGCCTTGCTGG | AC c.120
R W A P P L L T V L H S D L F Q A L L D | p.40
. . . | 04 . . g.16832
ATCCTGGACTATTATGAGGCTTCCCTCTCAGAGAGTCAG | AAATACCGCTACCAAGATGAA c.180
I L D Y Y E A S L S E S Q | K Y R Y Q D E p.60
. . . . | 05 . . g.20813
GACACGCCCCCTCTGGAGCACAGCCCGGCCCACCTCCCCAACCAG | GCCAATTCTCCCCCA c.240
D T P P L E H S P A H L P N Q | A N S P P p.80
. . . | 06 . . g.21004
GTGATTGTCAACACAGATACCCTAGAAGCCCCAGGATAT | GAGTTGCAGGTGAACGGGACC c.300
V I V N T D T L E A P G Y | E L Q V N G T p.100
. . . | 07 . . g.21255
GAGGGGGAGATGGAATACGAGGAAATCACATTGGAAAGG | GGTAACTCAGGTCTGGGCTTC c.360
E G E M E Y E E I T L E R | G N S G L G F p.120
. . . . . . g.21315
AGCATCGCAGGTGGCACTGACAACCCACACATCGGTGACGACCCATCCATTTTCATCACC c.420
S I A G G T D N P H I G D D P S I F I T p.140
. . . . | 08 . . g.21473
AAGATCATTCCTGGTGGGGCTGCGGCCCAGGATGGCCGCCTCAG | GGTCAACGACAGCATC c.480
K I I P G G A A A Q D G R L R | V N D S I p.160
. . . . . . g.21533
CTGTTTGTAAATGAAGTGGACGTGCGCGAGGTGACCCACTCAGCGGCGGTGGAAGCCCTC c.540
L F V N E V D V R E V T H S A A V E A L p.180
. . . . . . g.21593
AAAGAGGCAGGCTCCATCGTTCGCCTCTATGTCATGCGCCGGAAGCCCCCGGCTGAGAAG c.600
K E A G S I V R L Y V M R R K P P A E K p.200
. . . | 09 . . . g.21747
GTCATGGAGATCAAGCTCATCAAGGGGCCTAAAG | GTCTTGGCTTCAGCATCGCAGGGGGC c.660
V M E I K L I K G P K G | L G F S I A G G p.220
. . . . . . g.21807
GTAGGGAACCAGCACATCCCAGGAGATAATAGCATCTATGTAACAAAGATCATCGAAGGG c.720
V G N Q H I P G D N S I Y V T K I I E G p.240
. . . . . | 10 . g.22012
GGTGCTGCCCACAAGGATGGGAGGTTGCAGATTGGAGACAAGATCCTGGCG | GTCAACAGT c.780
G A A H K D G R L Q I G D K I L A | V N S p.260
. . . . . . g.22072
GTGGGGCTAGAGGACGTCATGCATGAAGATGCTGTGGCAGCCCTGAAGAACACGTATGAT c.840
V G L E D V M H E D A V A A L K N T Y D p.280
. . . . . . g.22132
GTTGTCTACCTAAAGGTGGCCAAGCCCAGCAATGCCTACCTGAGTGACAGCTATGCTCCC c.900
V V Y L K V A K P S N A Y L S D S Y A P p.300
. | 11 . . . . . g.28042
CCAGACATCACAACCT | CTTATTCCCAGCACCTGGACAATGAGATCAGTCACAGCAGCTAC c.960
P D I T T S | Y S Q H L D N E I S H S S Y p.320
. . . . . . g.28102
CTGGGCACCGACTACCCCACAGCCATGACCCCCACTTCCCCTCGGCGCTACTCTCCAGTG c.1020
L G T D Y P T A M T P T S P R R Y S P V p.340
. . . . . . g.28162
GCCAAGGACCTGCTCGGGGAGGAAGACATTCCCCGAGAACCGAGGCGAATTGTGATCCAC c.1080
A K D L L G E E D I P R E P R R I V I H p.360
. . . . . . g.28222
CGGGGCTCCACGGGCCTGGGCTTCAACATCGTGGGTGGCGAGGACGGTGAAGGCATCTTC c.1140
R G S T G L G F N I V G G E D G E G I F p.380
. . . . . . g.28282
ATCTCCTTTATCCTGGCCGGGGGCCCTGCAGACCTCAGTGGGGAGCTGCGGAAGGGGGAC c.1200
I S F I L A G G P A D L S G E L R K G D p.400
. | 12 . . . . . g.28523
CAGATCCTGTCG | GTCAACGGTGTGGACCTCCGAAATGCCAGCCATGAGCAGGCTGCCATT c.1260
Q I L S | V N G V D L R N A S H E Q A A I p.420
. . . . . | 13 . g.28721
GCCCTGAAGAATGCGGGTCAGACGGTCACGATCATCGCTCAGTATAAACCAGAAG | AGTAC c.1320
A L K N A G Q T V T I I A Q Y K P E E | Y p.440
. . . . . . g.28781
AGCCGATTCGAGGCCAAGATCCACGACCTTCGGGAACAGCTCATGAACAGCAGCCTGGGC c.1380
S R F E A K I H D L R E Q L M N S S L G p.460
. . . . . | 14 . g.30565
TCAGGGACTGCGTCCCTGCGGAGCAACCCCAAAAGGGGTTTCTACATCAG | GGCCCTGTTT c.1440
S G T A S L R S N P K R G F Y I R | A L F p.480
. . . . . . g.30625
GATTACGACAAGACCAAGGACTGCGGCTTCCTGAGCCAGGCCCTGAGCTTCCGCTTTGGG c.1500
D Y D K T K D C G F L S Q A L S F R F G p.500
. . . . . . g.30685
GATGTGCTGCATGTCATCGATGCTAGTGATGAGGAGTGGTGGCAGGCACGGCGGGTCCAC c.1560
D V L H V I D A S D E E W W Q A R R V H p.520
. . . . | 15. . g.31063
TCTGACAGTGAGACCGACGACATTGGGTTCATCCCCAGCAAACGGCG | GGTTGAGCGACGA c.1620
S D S E T D D I G F I P S K R R | V E R R p.540
. . | 16 . . . | 17 . g.31344
GAGTGGTCAAGGTTAAAGGCCAAG | GACTGGGGCTCCAGCTCTGGATCGCAGG | GTCGAGAA c.1680
E W S R L K A K | D W G S S S G S Q G | R E p.560
. . . . | 18 . . g.31486
GACTCGGTTCTGAGCTACGAGACAGTGACGCAGATGGAAG | TGCACTATGCTCGCCCCATC c.1740
D S V L S Y E T V T Q M E V | H Y A R P I p.580
. . . . . . g.31546
ATCATCCTTGGGCCCACCAAGGACCGCGCCAACGATGATCTTCTCTCCGAGTTCCCCGAC c.1800
I I L G P T K D R A N D D L L S E F P D p.600
. . | 19 . . . . g.31971
AAGTTTGGATCCTGTGTTCCCC | ATACGACACGGCCCAAGCGGGAGTATGAGATAGATGGC c.1860
K F G S C V P H | T T R P K R E Y E I D G p.620
. . . . . . g.32031
CGGGATTACCACTTTGTGTCGTCCCGGGAGAAAATGGAGAAGGACATTCAGGCGCACAAG c.1920
R D Y H F V S S R E K M E K D I Q A H K p.640
. . . . . . g.32091
TTCATTGAGGCCGGCCAGTACAACAGCCACCTCTATGGGACCAGCGTCCAGTCCGTGCGA c.1980
F I E A G Q Y N S H L Y G T S V Q S V R p.660
. | 20 . . . . . g.33093
GAGGTGGCAGAGCAG | GGGAAGCACTGCATCCTCGATGTCTCGGCCAATGCCGTGCGGCGG c.2040
E V A E Q | G K H C I L D V S A N A V R R p.680
. . . . . . g.33153
CTGCAGGCGGCCCACCTGCACCCCATCGCCATCTTCATCCGCCCCCGCTCCCTGGAGAAT c.2100
L Q A A H L H P I A I F I R P R S L E N p.700
| 21 . . . . . . g.33747
GTGCT | AGAGATTAACAAGCGGATCACAGAGGAGCAAGCCCGCAAAGCCTTCGACAGAGCC c.2160
V L | E I N K R I T E E Q A R K A F D R A p.720
. . . | 22. . . g.34259
ACCAAGCTGGAGCAGGAGTTCACAGAGTGCTTCTCAG | CCATCGTGGAGGGTGACAGCTTT c.2220
T K L E Q E F T E C F S A | I V E G D S F p.740
. . . . . . g.34319
GAGGAGATCTACCACAAGGTGAAGCGTGTCATCGAGGACCTCTCAGGCCCCTACATCTGG c.2280
E E I Y H K V K R V I E D L S G P Y I W p.760
. . g.34343
GTTCCAGCCCGAGAGAGACTCTGA c.2304
V P A R E R L X p.767
. . . . . . g.34403
ttcctgccctggcttggcctggactcgccctgcctccatcacctgggcccttggtctgga c.*60
. . . . . . g.34463
ctgaattgcccaagcccttggctccccccggcctccctcccaccccttcttatttatttc c.*120
. . . . . . g.34523
ctttctaactggatccagcctgttggaggggggacactcctctgcatgtatccccgcacc c.*180
. . . . . . g.34583
ccagaactgggctcctgaacgccaggaacctggggtctgggggggagctgggctccttgt c.*240
. . . . . . g.34643
tccgagcccttgctccttaggatccccgcccccacctgcccccaatgcacacacagaccc c.*300
. . . . . . g.34703
accgggggccacctgccctcccccatcctctcccacacacattccagaagtcagggcccc c.*360
. . . . . . g.34763
ctcgaggagcacccgctgcagggatgcagggccacaggcctccgctctctcctaaggcag c.*420
. . . . . . g.34823
ggtctggggtcacccctgccctcatcgtaattccccatgttccttgatttctcatttatt c.*480
. . . . . . g.34883
ttttccactttttttcttctcaaaggtggttttttggggggagaagcaggggactccgca c.*540
. . . . . . g.34943
gcgggcccctgccttccacatgcccccaccatttttctttgccggtttgcatgagtggaa c.*600
. . . . . . g.35003
ggtctaaatgtggcttttttttttttttttcctgggaatttttttggggaaaagggaggg c.*660
. . . . . . g.35063
atgggtctagggagtgggaaatgcgggagggagggtggggggcaggggtcgggggtcggg c.*720
. . . . . . g.35123
tgtccgggagccagggaagactggaaatgctgccgccttctgcaatttatttattttttt c.*780
. . . g.35161
cttttgagagagtgaaaggaagagacagatacttgaaa c.*818
(downstream sequence)
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