(used for variant description)
(last modified July 24, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_177986.3 in the DSG4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013040.1, covering DSG4 transcript NM_177986.3.
(upstream sequence)
. g.5015
caccacagttatcac c.-121
. . . . . . g.5075
ccatgccctcctaaaagggtgtctcaaagcatatctttctgtagagcagaattcggaact c.-61
. . . . . . g.5135
gagaagacgagggctcaaattgaatctcacaggatttgcgtgcaagagaaacccaaagga c.-1
. . . . | 02 . g.13371
ATGGATTGGCTCTTCTTCAGAAACATTTGCCTTTTGATCATTCTAATG | GTGGTGATGGAA c.60
M D W L F F R N I C L L I I L M | V V M E p.20
. . | 03 . . . . g.14947
GTAAACAGTGAATTTATTGTTGAG | GTGAAGGAATTTGACATTGAAAATGGCACTACAAAA c.120
V N S E F I V E | V K E F D I E N G T T K p.40
. . . . . . g.15007
TGGCAAACAGTCAGAAGACAAAAGCGGGAGTGGATCAAGTTTGCCGCAGCCTGTCGAGAA c.180
W Q T V R R Q K R E W I K F A A A C R E p.60
. . . | 04 . . . g.16614
GGAGAGGACAACTCGAAGAGGAACCCCATTGCCAAA | ATTCGATCAGACTGCGAATCGAAC c.240
G E D N S K R N P I A K | I R S D C E S N p.80
. . . . . . g.16674
CAGAAGATAACATACCGGATTTCTGGAGTAGGGATTGATCGACCACCATATGGGGTATTC c.300
Q K I T Y R I S G V G I D R P P Y G V F p.100
. . . . . . g.16734
ACCATTAATCCTCGCACTGGGGAAATTAACATCACTTCAGTGGTAGACAGAGAAATAACT c.360
T I N P R T G E I N I T S V V D R E I T p.120
. | 05 . . . . . g.17145
CCACTTTTCTTG | ATCTATTGCCGGGCTCTGAATTCACGGGGTGAAGATTTAGAAAGGCCT c.420
P L F L | I Y C R A L N S R G E D L E R P p.140
. . . . . . g.17205
CTTGAGCTTAGAGTCAAAGTTATGGACATAAATGATAACGCTCCAGTCTTTTCGCAAAGT c.480
L E L R V K V M D I N D N A P V F S Q S p.160
. . . | 06. . . g.18902
GTATACACAGCCAGCATTGAAGAAAATAGTGATGCCA | ATACATTGGTAGTAAAGTTATGT c.540
V Y T A S I E E N S D A N | T L V V K L C p.180
. . . . . . g.18962
GCCACAGATGCAGATGAAGAAAATCATCTGAATTCTAAAATTGCCTACAAGATCGTCTCT c.600
A T D A D E E N H L N S K I A Y K I V S p.200
. . . . . . g.19022
CAGGAGCCATCAGGTGCACCCATGTTCATTCTGAATAGGTACACTGGAGAAGTCTGCACC c.660
Q E P S G A P M F I L N R Y T G E V C T p.220
. . | 07 . . . . g.19337
ATGTCCAGTTTCTTGGACAGAGAG | CAACACAGTATGTACAACCTGGTTGTGAGAGGCTCA c.720
M S S F L D R E | Q H S M Y N L V V R G S p.240
. . . . . . g.19397
GATCGGGATGGAGCTGCAGATGGACTGTCTTCTGAGTGTGACTGTAGAATCAAGGTTTTA c.780
D R D G A A D G L S S E C D C R I K V L p.260
. . . | 08 . . g.20399
GACGTCAACGATAATTTCCCCACCTTAGAGAAAACTTCA | TACTCAGCCAGTATTGAAGAG c.840
D V N D N F P T L E K T S | Y S A S I E E p.280
. . . . . . g.20459
AATTGTTTAAGTTCGGAACTGATACGATTACAAGCAATTGATCTTGATGAAGAAGGCACT c.900
N C L S S E L I R L Q A I D L D E E G T p.300
. . . . . . g.20519
GATAACTGGTTGGCTCAATATTTAATTCTCTCTGGAAATGATGGGAATTGGTTCGATATT c.960
D N W L A Q Y L I L S G N D G N W F D I p.320
. . . . | 09 . . g.27510
CAAACAGATCCACAAACCAATGAAGGCATTTTGAAAGTTGTCAAG | ATGCTGGATTATGAA c.1020
Q T D P Q T N E G I L K V V K | M L D Y E p.340
. . . . . . g.27570
CAAGCACCTAACATTCAGCTTAGTATCGGAGTTAAAAACCAAGCTGATTTTCACTACTCC c.1080
Q A P N I Q L S I G V K N Q A D F H Y S p.360
. . . . . . g.27630
GTTGCTTCTCAATTCCAAATGCACCCAACCCCTGTGAGAATTCAAGTTGTTGATGTGAGA c.1140
V A S Q F Q M H P T P V R I Q V V D V R p.380
. . . . . . g.27690
GAAGGACCTGCATTTCATCCAAGTACTATGGCTTTTAGTGTGCGGGAAGGAATAAAAGGA c.1200
E G P A F H P S T M A F S V R E G I K G p.400
. . . . . . g.27750
AGTTCCTTATTGAATTATGTGCTTGGCACATATACAGCCATAGATTTGGACACAGGAAAC c.1260
S S L L N Y V L G T Y T A I D L D T G N p.420
. | 10. . . . . g.29147
CCTGCAACAGATGTCAG | ATATATCATAGGGCATGATGCAGGCAGCTGGTTAAAAATTGAT c.1320
P A T D V R | Y I I G H D A G S W L K I D p.440
. . . . . . g.29207
TCAAGAACTGGTGAGATACAATTTTCTAGAGAATTTGATAAGAAGTCAAAATATATTATC c.1380
S R T G E I Q F S R E F D K K S K Y I I p.460
. . . | 11. . . g.31662
AATGGGATATACACAGCAGAGATCCTGGCTATAGATG | ATGGCTCTGGAAAAACAGCTACA c.1440
N G I Y T A E I L A I D D | G S G K T A T p.480
. . . . . . g.31722
GGAACCATATGTATTGAGGTTCCTGATATCAATGATTATTGTCCAAACATTTTTCCTGAA c.1500
G T I C I E V P D I N D Y C P N I F P E p.500
. . . . . . g.31782
AGAAGAACCATCTGCATTGACTCTCCATCAGTCCTTATCTCTGTTAATGAACATTCTTAT c.1560
R R T I C I D S P S V L I S V N E H S Y p.520
. . . . . . g.31842
GGGTCTCCGTTTACTTTCTGTGTTGTTGATGAGCCACCAGGAATAGCTGACATGTGGGAT c.1620
G S P F T F C V V D E P P G I A D M W D p.540
. | 12 . . . . . g.34344
GTCAGATCAACAAATG | CTACCTCGGCAATCCTTACGGCTAAGCAGGTTTTATCTCCAGGA c.1680
V R S T N A | T S A I L T A K Q V L S P G p.560
. . . . . . g.34404
TTTTATGAAATCCCAATCCTGGTGAAGGACAGCTATAACAGAGCATGTGAATTGGCACAA c.1740
F Y E I P I L V K D S Y N R A C E L A Q p.580
. . . . . . g.34464
ATGGTGCAGTTATATGCCTGTGATTGCGATGACAACCACATGTGCCTGGACTCTGGTGCC c.1800
M V Q L Y A C D C D D N H M C L D S G A p.600
. . . . . . g.34524
GCGGGCATCTACACAGAGGACATAACTGGTGACACGTATGGGCCTGTCACTGAAGACCAA c.1860
A G I Y T E D I T G D T Y G P V T E D Q p.620
. . . . . . g.34584
GCTGGAGTTTCAAATGTTGGTCTTGGACCAGCAGGGATTGGCATGATGGTTCTGGGCATC c.1920
A G V S N V G L G P A G I G M M V L G I p.640
. | 13 . . . . . g.37722
CTGCTACTGATTT | TGGCTCCACTCTTGCTGCTCCTGTGTTGCTGCAAACAGAGACAGCCA c.1980
L L L I L | A P L L L L L C C C K Q R Q P p.660
. . . . . . g.37782
GAAGGCCTGGGAACAAGATTTGCTCCTGTGCCTGAGGGCGGAGAAGGAGTGATGCAGTCT c.2040
E G L G T R F A P V P E G G E G V M Q S p.680
. . . | 14 . . . g.37995
TGGAGAATTGAAGGGGCCCATCCCGAGGACAGG | GATGTGTCAAATATATGTGCACCCATG c.2100
W R I E G A H P E D R | D V S N I C A P M p.700
. . . | 15. . . g.39477
ACAGCCTCAAATACCCAGGATCGGATGGATTCCTCTG | AAATCTACACCAACACCTATGCA c.2160
T A S N T Q D R M D S S E | I Y T N T Y A p.720
. . . . . . g.39537
GCCGGGGGCACGGTGGAAGGAGGTGTATCGGGAGTGGAGCTCAACACAGGTATGGGGACA c.2220
A G G T V E G G V S G V E L N T G M G T p.740
. . . . . . g.39597
GCCGTTGGCCTCATGGCCGCAGGGGCCGCAGGAGCCTCAGGGGCCGCAAGGAAGAGGAGC c.2280
A V G L M A A G A A G A S G A A R K R S p.760
. . . . . . g.39657
TCTACCATGGGAACCCTGCGGGACTACGCTGACGCAGACATCAACATGGCTTTCTTGGAC c.2340
S T M G T L R D Y A D A D I N M A F L D p.780
. | 16 . . . . . g.41096
AGCTACTTCTCGGAG | AAAGCGTATGCTTATGCAGATGAAGATGAAGGTCGACCAGCCAAT c.2400
S Y F S E | K A Y A Y A D E D E G R P A N p.800
. . . . . . g.41156
GACTGCTTGCTCATTTATGACCACGAGGGAGTCGGGTCTCCCGTAGGCTCTATTGGTTGT c.2460
D C L L I Y D H E G V G S P V G S I G C p.820
. . . . . . g.41216
TGCAGTTGGATTGTGGATGACTTAGATGAAAGCTGCATGGAAACTTTAGATCCAAAATTT c.2520
C S W I V D D L D E S C M E T L D P K F p.840
. . . . . . g.41276
AGGACTCTTGCTGAGATCTGCTTAAACACAGAAATTGAACCATTTCCTTCACACCAGGCT c.2580
R T L A E I C L N T E I E P F P S H Q A p.860
. . . . . . g.41336
TGTATACCAATCAGTACTGACCTCCCTTTGCTCGGACCTAATTACTTTGTTAATGAATCT c.2640
C I P I S T D L P L L G P N Y F V N E S p.880
. . . . . . g.41396
TCAGGATTGACTCCCTCAGAAGTTGAATTCCAAGAAGAAATGGCAGCATCTGAACCCGTG c.2700
S G L T P S E V E F Q E E M A A S E P V p.900
. . . . . . g.41456
GTCCATGGGGATATTATTGTGACTGAGACTTACGGTAATGCTGATCCATGTGTGCAACCC c.2760
V H G D I I V T E T Y G N A D P C V Q P p.920
. . . . . . g.41516
ACTACAATTATTTTTGATCCTCAGCTTGCACCCAATGTTGTAGTAACCGAAGCAGTAATG c.2820
T T I I F D P Q L A P N V V V T E A V M p.940
. . . . . . g.41576
GCACCTGTCTATGATATTCAAGGGAATATTTGTGTACCTGCTGAGTTAGCAGATTACAAC c.2880
A P V Y D I Q G N I C V P A E L A D Y N p.960
. . . . . . g.41636
AATGTAATCTATGCTGAGAGAGTACTGGCTAGTCCTGGTGTGCCTGACATGAGCAATAGT c.2940
N V I Y A E R V L A S P G V P D M S N S p.980
. . . . . . g.41696
AGCACGACTGAGGGTTGTATGGGACCTGTGATGAGCGGCAATATTTTAGTAGGGCCAGAA c.3000
S T T E G C M G P V M S G N I L V G P E p.1000
. . . . . . g.41756
ATTCAAGTGATGCAAATGATGAGTCCAGACCTTCCCATAGGCCAAACCGTTGGCTCCACA c.3060
I Q V M Q M M S P D L P I G Q T V G S T p.1020
. . . . . . g.41816
TCCCCCATGACATCTCGACACAGAGTAACACGATACAGTAACATACATTACACCCAACAG c.3120
S P M T S R H R V T R Y S N I H Y T Q Q p.1040
g.41819
TAA c.3123
X p.1040
. . . . . . g.41879
gtgctttatggtcagtattctatgtggagaccttgcaccttgtaatcatcaatacatcca c.*60
. . . . . . g.41939
ccaaaaatatataatgtaccatatatattaatagtcaacaaatactcagatattctaagg c.*120
. . . . . . g.41999
tcaatgccattatttgattataccattttgagggtgaatatggctaggcactttagataa c.*180
. . . . . . g.42059
gcctttttaaaattctttctgattttaaataatgcgtcaaaaaatgtgcagaaaatgtat c.*240
. . . . . . g.42119
tgcatcccttgatactgtctaacgaatagcacataactcatattgtgaatcctatgggtc c.*300
. . g.42141
ttgaggcctgtagaaccaatct c.*322
(downstream sequence)
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