(used for variant description)
(last modified July 14, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001941.3 in the DSC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering DSC3 transcript NM_001941.3.
(upstream sequence)
. . . g.5035
gaagttgctcccgggcaggcaagcctgagagaggc c.-121
. . . . . . g.5095
caaatacacttaaaaacaagcagcggcgagaaaagcacctcccgcgccctgcacctcggc c.-61
. . . . . . g.5155
aggtctcgctctcggcaccctcccggcgcccgcgttctcctggccctgcccggcatcccg c.-1
. . . . . . g.5215
ATGGCCGCCGCTGGGCCCCGGCGCTCCGTGCGCGGAGCCGTCTGCCTGCATCTGCTGCTG c.60
M A A A G P R R S V R G A V C L H L L L p.20
| 02 . . . . . g.15590
ACCCTCGTG | ATCTTCAGTCGTGCTGGTGAAGCCTGCAAAAAGGTGATACTTAATGTACCT c.120
T L V | I F S R A G E A C K K V I L N V P p.40
. . . | 03 . . . g.16669
TCTAAACTAGAGGCAGACAAAATAATTGGCAGAG | TTAATTTGGAAGAGTGCTTCAGGTCT c.180
S K L E A D K I I G R V | N L E E C F R S p.60
. . . . . . g.16729
GCAGACCTCATCCGGTCAAGTGATCCTGATTTCAGAGTTCTAAATGATGGGTCAGTGTAC c.240
A D L I R S S D P D F R V L N D G S V Y p.80
. . . . . . g.16789
ACAGCCAGGGCTGTTGCGCTGTCTGATAAGAAAAGATCATTTACCATATGGCTTTCTGAC c.300
T A R A V A L S D K K R S F T I W L S D p.100
. . . . . | 04 . g.18193
AAAAGGAAACAGACACAGAAAGAGGTTACTGTGCTGCTAGAACATCAGAAGAAG | GTATCG c.360
K R K Q T Q K E V T V L L E H Q K K | V S p.120
. . . . . . g.18253
AAGACAAGACACACTAGAGAAACTGTTCTCAGGCGTGCCAAGAGGAGATGGGCACCTATT c.420
K T R H T R E T V L R R A K R R W A P I p.140
. . . . . | 05 . g.21906
CCTTGCTCTATGCAAGAGAATTCCTTGGGCCCTTTCCCATTGTTTCTTCAACAA | GTTGAA c.480
P C S M Q E N S L G P F P L F L Q Q | V E p.160
. . . . . . g.21966
TCTGATGCAGCACAGAACTATACTGTCTTCTACTCAATAAGTGGACGTGGAGTTGATAAA c.540
S D A A Q N Y T V F Y S I S G R G V D K p.180
. . . . . . g.22026
GAACCTTTAAATTTGTTTTATATAGAAAGAGACACTGGAAATCTATTTTGCACTCGGCCT c.600
E P L N L F Y I E R D T G N L F C T R P p.200
. . . | 06 . . . g.23352
GTGGATCGTGAAGAATATGATGTTTTTGAT | TTGATTGCTTATGCGTCAACTGCAGATGGA c.660
V D R E E Y D V F D | L I A Y A S T A D G p.220
. . . . . . g.23412
TATTCAGCAGATCTGCCCCTCCCACTACCCATCAGGGTAGAGGATGAAAATGACAACCAC c.720
Y S A D L P L P L P I R V E D E N D N H p.240
. . . . . | 07 . g.25318
CCTGTTTTCACAGAAGCAATTTATAATTTTGAAGTTTTGGAAAGTAGTAGACCTG | GTACT c.780
P V F T E A I Y N F E V L E S S R P G | T p.260
. . . . . . g.25378
ACAGTGGGGGTGGTTTGTGCCACAGACAGAGATGAACCGGACACAATGCATACGCGCCTG c.840
T V G V V C A T D R D E P D T M H T R L p.280
. . . . . . g.25438
AAATACAGCATTTTGCAGCAGACACCAAGGTCACCTGGGCTCTTTTCTGTGCATCCCAGC c.900
K Y S I L Q Q T P R S P G L F S V H P S p.300
. . . . | 08 . . g.29033
ACAGGCGTAATCACCACAGTCTCTCATTATTTGGACAGAGAG | GTTGTAGACAAGTACTCA c.960
T G V I T T V S H Y L D R E | V V D K Y S p.320
. . . . . . g.29093
TTGATAATGAAAGTACAAGACATGGATGGCCAGTTTTTTGGATTGATAGGCACATCAACT c.1020
L I M K V Q D M D G Q F F G L I G T S T p.340
. . . . . | 09. g.29562
TGTATCATAACAGTAACAGATTCAAATGATAATGCACCCACTTTCAGACAAAATGCT | TAT c.1080
C I I T V T D S N D N A P T F R Q N A | Y p.360
. . . . . . g.29622
GAAGCATTTGTAGAGGAAAATGCATTCAATGTGGAAATCTTACGAATACCTATAGAAGAT c.1140
E A F V E E N A F N V E I L R I P I E D p.380
. . . . . . g.29682
AAGGATTTAATTAACACTGCCAATTGGAGAGTCAATTTTACCATTTTAAAGGGAAATGAA c.1200
K D L I N T A N W R V N F T I L K G N E p.400
. . . . . . g.29742
AATGGACATTTCAAAATCAGCACAGACAAAGAAACTAATGAAGGTGTTCTTTCTGTTGTA c.1260
N G H F K I S T D K E T N E G V L S V V p.420
| 10 . . . . . . g.39347
AAG | CCACTGAATTATGAAGAAAACCGTCAAGTGAACCTGGAAATTGGAGTAAACAATGAA c.1320
K | P L N Y E E N R Q V N L E I G V N N E p.440
. . . . . . g.39407
GCGCCATTTGCTAGAGATATTCCCAGAGTGACAGCCTTGAACAGAGCCTTGGTTACAGTT c.1380
A P F A R D I P R V T A L N R A L V T V p.460
. . . . . . g.39467
CATGTGAGGGATCTGGATGAGGGGCCTGAATGCACTCCTGCAGCCCAATATGTGCGGATT c.1440
H V R D L D E G P E C T P A A Q Y V R I p.480
. . . . . . g.39527
AAAGAAAACTTAGCAGTGGGGTCAAAGATCAACGGCTATAAGGCATATGACCCCGAAAAT c.1500
K E N L A V G S K I N G Y K A Y D P E N p.500
. . | 11 . . . . g.39697
AGAAATGGCAATGGTTTAAG | GTACAAAAAATTGCATGATCCTAAAGGTTGGATCACCATT c.1560
R N G N G L R | Y K K L H D P K G W I T I p.520
. . . . . . g.39757
GATGAAATTTCAGGGTCAATCATAACTTCCAAAATCCTGGATAGGGAGGTTGAAACTCCC c.1620
D E I S G S I I T S K I L D R E V E T P p.540
. . . . | 12 . . g.40701
AAAAATGAGTTGTATAATATTACAGTCCTGGCAATAGACAAAG | ATGATAGATCATGTACT c.1680
K N E L Y N I T V L A I D K D | D R S C T p.560
. . . . . . g.40761
GGAACACTTGCTGTGAACATTGAAGATGTAAATGATAATCCACCAGAAATACTTCAAGAA c.1740
G T L A V N I E D V N D N P P E I L Q E p.580
. . . . . . g.40821
TATGTAGTCATTTGCAAACCAAAAATGGGGTATACCGACATTTTAGCTGTTGATCCTGAT c.1800
Y V V I C K P K M G Y T D I L A V D P D p.600
. . . . . . g.40881
GAACCTGTCCATGGAGCTCCATTTTATTTCAGTTTGCCCAATACTTCTCCAGAAATCAGT c.1860
E P V H G A P F Y F S L P N T S P E I S p.620
. . | 13 . . . g.43481
AGACTGTGGAGCCTCACCAAAGTTAATG | ATACAGCTGCCCGTCTTTCATATCAGAAAAAT c.1920
R L W S L T K V N D | T A A R L S Y Q K N p.640
. . . . . . g.43541
GCTGGATTTCAAGAATATACCATTCCTATTACTGTAAAAGACAGGGCCGGCCAAGCTGCA c.1980
A G F Q E Y T I P I T V K D R A G Q A A p.660
. . . . . . g.43601
ACAAAATTATTGAGAGTTAATCTGTGTGAATGTACTCATCCAACTCAGTGTCGTGCGACT c.2040
T K L L R V N L C E C T H P T Q C R A T p.680
. . . . . . g.43661
TCAAGGAGTACAGGAGTAATACTTGGAAAATGGGCAATCCTTGCAATATTACTGGGTATA c.2100
S R S T G V I L G K W A I L A I L L G I p.700
. | 14 . . . . . g.46123
GCACTGCTCTTTT | CTGTATTGCTAACTTTAGTATGTGGAGTTTTTGGTGCAACTAAAGGG c.2160
A L L F S | V L L T L V C G V F G A T K G p.720
. . . . . . g.46183
AAACGTTTTCCTGAAGATTTAGCACAGCAAAACTTAATTATATCAAACACAGAAGCACCT c.2220
K R F P E D L A Q Q N L I I S N T E A P p.740
. | 15 . . . . . g.50812
GGAGACGATAGAGTG | TGCTCTGCCAATGGATTTATGACCCAAACTACCAACAACTCTAGC c.2280
G D D R V | C S A N G F M T Q T T N N S S p.760
. . . . . . g.50872
CAAGGTTTTTGTGGTACTATGGGATCAGGAATGAAAAATGGAGGGCAGGAAACCATTGAA c.2340
Q G F C G T M G S G M K N G G Q E T I E p.780
. . . . . . g.50932
ATGATGAAAGGAGGAAACCAGACCTTGGAATCCTGCCGGGGGGCTGGGCATCATCATACC c.2400
M M K G G N Q T L E S C R G A G H H H T p.800
. . . . . . g.50992
CTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGATACACTTACTCGGAG c.2460
L D S C R G G H T E V D N C R Y T Y S E p.820
. . . | 16 . . . g.53470
TGGCACAGTTTTACTCAACCCCGTCTCGGTGAA | AAATTGCATCGATGTAATCAGAATGAA c.2520
W H S F T Q P R L G E | K L H R C N Q N E p.840
. . . . . . g.53530
GACCGCATGCCATCCCAAGATTATGTCCTCACTTATAACTATGAGGGAAGAGGATCTCCA c.2580
D R M P S Q D Y V L T Y N Y E G R G S P p.860
. . . . . . g.53590
GCTGGTTCTGTGGGCTGCTGCAGTGAAAAGCAGGAAGAAGATGGCCTTGACTTTTTAAAT c.2640
A G S V G C C S E K Q E E D G L D F L N p.880
. . . . . g.53641
AATTTGGAACCCAAATTTATTACATTAGCAGAAGCATGCACAAAGAGATAA c.2691
N L E P K F I T L A E A C T K R X p.896
. . . . . . g.53701
tgtcacagtgctacaattaggtctttgtcagacattctggaggtttccaaaaataatatt c.*60
. . . . . . g.53761
gtaaagttcaatttcaacatgtatgtatatgatgatttttttctcaattttgaattatgc c.*120
. . . . . . g.53821
tactcaccaatttatatttttaaagcaagttgttgcttatcttttccaaaaagtgaaaaa c.*180
. . . . . . g.53881
tgttaaaacagacaactggtaaatctcaaactccagcactggaattaaggtctctaaagc c.*240
. . . . . . g.53941
atctgctcttttttttttttacggatattttagtaataaatatgctggataaatattagt c.*300
. . . . . . g.54001
ccaacaatagctaagttatgctaatatcacattattatgtattcactttaagtgatagtt c.*360
. . . . . . g.54061
taaaaaataaacaagaaatattgagtatcactatgtgaagaaagttttggaaaagaaaca c.*420
. . . . . . g.54121
atgaagactgaattaaattaaaaatgttgcagctcataaagaattgggactcacccctac c.*480
. . . . . . g.54181
tgcactaccaaattcatttgactttggaggcaaaatgtgttgaagtgccctatgaagtag c.*540
. . . . . . g.54241
caattttctataggaatatagttggaaataaatgtgtgtgtgtatattattattaatcaa c.*600
. . . . . . g.54301
tgcaatatttaaaatgaaatgagaacaaagaggaaaatggtaaaaacttgaaatgaggct c.*660
. . . . . . g.54361
ggggtatagtttgtcctacaatagaaaaaagagagagcttcctaggcctgggctcttaaa c.*720
. . . . . . g.54421
tgctgcattataactgagtctatgaggaaatagttcctgtccaatttgtgtaatttgttt c.*780
. . . . . . g.54481
aaaattgtaaataaattaaacttttctggtttctgtgggaaggaaatagggaatccaatg c.*840
. . . . . . g.54541
gaacagtagctttgctttgcagtctgtttcaagatttctgcatccacaagttagtagcaa c.*900
. . . . . . g.54601
actggggaatactcgctgcagctggggttccctgctttttggtagcaagggtccagagat c.*960
. . . . . . g.54661
gaggtgtttttttcggggagctaataacaaaaacattttaaaacttacctttactgaagt c.*1020
. . . . . . g.54721
taaatcctctattgctgtttctattctctcttatagtgaccaacatctttttaatttaga c.*1080
. . . . . . g.54781
tccaaataaccatgtcctcctagagtttagaggctagagggagctgaggggaggatctta c.*1140
. . . . . . g.54841
ctgaaagcaccctggggagattgattgtccttaaacctaagccccacaaacttgacacct c.*1200
. . . . . . g.54901
gatcaggtctgggagctacaaaatttcatttttctcctcactgcccttcttctgagtggc c.*1260
. . . . . . g.54961
attggcctgaatcaaggaaagccaggccttgtgggcccccttctttcggctttctgctaa c.*1320
. . . . . . g.55021
agcaacacctccagcagagattcccttaagtgactccaggttttccaccatccttcagcg c.*1380
. . . . . . g.55081
tgaattaatttttaatcagtttgctttctccagagaaattttaaaataatagaagaaata c.*1440
. . . . . . g.55141
gaaattttgaatgtataaaagaaaaagatcaagttgtcattttagaacagagggaacttt c.*1500
. . . . . . g.55201
gggagaaagcagcccaagtaggttatttgtacagtcagagggcaacaggaagatgcaggc c.*1560
. . . . . . g.55261
cttcaagggcaaggagaggccacaaggaatatgggtgggagtaaaagcaacatcgtctgc c.*1620
. . . . . . g.55321
ttcatactttttcctaggcttggcactgccttttcctttctcaggccaatggcaactgcc c.*1680
. . . . . . g.55381
atttgagtccggtgagggatcagccaacctcttctctatggctcaccttatttggagtga c.*1740
. . . . . . g.55441
gaaatcaaggagacagagctgactgcatgatgagtctgaaggcatttgcaggatgagcct c.*1800
. . . . . . g.55501
gaactggttgtgcagaacaaacaaggcattcatgggaattgttgtattccttctgcagcc c.*1860
. . . . . . g.55561
ctccttctgggcactaagaaggtctatgaattaaatgcctatctaaaattctgatttatt c.*1920
. . . . . . g.55621
cctacattttctgttttctaatttgaccctaaaatctatgtgttttagacttagactttt c.*1980
. . . . . . g.55681
tattgccccccccccccccttttttttttgagacggagtctcgctctgacgcacaggctg c.*2040
. . . . . . g.55741
gagtgcagtggctccgatctctgctcactgaaagctccgcctcccgggttcacgccattc c.*2100
. . . . . . g.55801
tcctgcctcagcctcctgagtagctgggactacaggcgcccaccaccacgcccggctaat c.*2160
. . . . . . g.55861
tttttgtatttttaatagagacggggtttcactgtgttagccaggatggtctcgatctcc c.*2220
. . . . . . g.55921
tgacctcgtgatccgcctgcctcggcctcccaaagtgctgggattacaggcatgacccac c.*2280
. . . . . . g.55981
cgctcccggccttgttttccgtttaaagtcgtcttcttttaatgtaatcattttgaacat c.*2340
. . . . . . g.56041
gtgtgaaagttgatcatacgaattggatcaatcttgaaatactcaaccaaaagacagtcg c.*2400
. . . . . . g.56101
agaagccagggggagaaagaactcagggcacaaaatattggtctgagaatggaattctct c.*2460
. . . . . . g.56161
gtaagcctagttgctgaaatttcctgctgtatccagaagccagttttatctaacggctac c.*2520
. . . . . . g.56221
tgaaacacccactgtgttttgctcactccctcactcaccgatcaaaacctgctacctccc c.*2580
. . . . . . g.56281
caagactttactagtgccgataaactttctcaaagagcaaccagtatcacttccctgttt c.*2640
. . . . . . g.56341
ataaaacctctaaccatctctttgttctttgaacatgctgaaaaccacctggtctgcatg c.*2700
. . . . . . g.56401
tatgcccgaatttgtaattcttttctctcaaatgaaaatttaattttagggattcatttc c.*2760
. . . . . . g.56461
tatattttcacatatgtagtattattatttccttatatgtgtaaggtgaaatttatggta c.*2820
. . . . . . g.56521
tttgagtgtgcaagaaaatatatttttaaagctttcatttttcccccagtgaatgattta c.*2880
. . . . . . g.56581
gaattttttatgtaaatatacagaatgttttttcttacttttataaggaagcagctgtct c.*2940
. . . . . . g.56641
aaaatgcagtggggtttgttttgcaatgttttaaacagagttttagtattgctattaaaa c.*3000
. . . . . . g.56701
gaagttactttgcttttaaagaaacttggctgcttaaaataagcaaaaattggatgcgta c.*3060
. . . . . . g.56761
aagtaatatttacagatgtggggagatgtaataaaacaatattaacttggtttcttgttt c.*3120
. . . . . . g.56821
ttgctgtatttagagattaaataattctaagatgatcactttgcaaaattatgcttatgg c.*3180
. . . . . . g.56881
ctggcatggaaatagaaataattatgtctttgttgtattaatggggaatattttggacaa c.*3240
. . . . . . g.56941
tgtttcattatcaaattgtcgacatcattaatatatattgtaatgttgggaagagatcac c.*3300
. . . . . . g.57001
tattttgaagcacagctttacagatgagtatctatgatacatatgtataataaattttga c.*3360
. . . . . . g.57061
ttgggtattaaaagtattagaaggtggttataattgcagagtattccatgaatagtacac c.*3420
. . . . . . g.57121
tgacacaggggttttactttgaggaccagtgtagtcaagggaaaacatgagttaaaaaga c.*3480
. . . . . . g.57181
aaagcaggcgatattgcagtcttgattctgccacttacaggatagataacgcctgaactt c.*3540
. . . . . . g.57241
taatgacaagatgatccaaccataaaggtgctctgtgcttcacagtgaatcttttcccca c.*3600
. . . . . . g.57301
tgcaggagtgtgctcccctacaaacgttaagactgatcatttcaaaaatctattagctat c.*3660
. . . . . . g.57361
atcaaaagccttacattttaatataggttgaaccaaaatttcaattccagtaacttctat c.*3720
. . . . . . g.57421
tgtaaccattatttttgtgtatgtcttcaagaatgttcattggatttttgtttgtaatag c.*3780
. . . . . . g.57481
taaaataccggatacatttcacgtgtccttcagtattgatttggttgaatattgggtcat c.*3840
. . . . . . g.57541
aatggttgagaagcatggacactagagccagaatgcttggatatgaatcctggatctgtc c.*3900
. . . . . . g.57601
acttacttctgtgtgacctttgaaaggctacttatttcctctcttagctttctcattaaa c.*3960
. . . . . . g.57661
atcaatgaacaatgccagcctcatggggttgttgaatgattaaatgagttactataccta c.*4020
. . . . . . g.57721
aagtacatagaacactgcctgcacatagtaaaagaattataagtgtgaggtagttggtaa c.*4080
g.57730
aattatgta c.*4089
(downstream sequence)
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