(used for variant description)
(last modified December 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004949.3 in the DSC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering DSC2 transcript NM_004949.3.
(upstream sequence)
. . . g.5034
gtgcagtcagggcttctgctgggcagggccggct c.-421
. . . . . . g.5094
gttaatctcgcctggcggagcggacaccggggcgtggtgggggagatgggccttataggt c.-361
. . . . . . g.5154
ggcgtccgctggtgagaaacaccttgcgcaggtaaaagggtggcggcgagagggagttcc c.-301
. . . . . . g.5214
cacccgtggctttcttagagaaatgaagtcttaagtcttaaatagacaacaaggaggggc c.-241
. . . . . . g.5274
cgatcggtgtcttttggacgcgtctggagcccctccctccgccaaaggaaaagccccttg c.-181
. . . . . . g.5334
gatgagaggcaggcgcttcagagaagctaagaaaagcacctctccgcgcgccccacctcc c.-121
. . . . . . g.5394
tccgcctcgcgctcctcctgagcagcgggcccagactgcgctccggccgcggccctcgcc c.-61
. . . . . . g.5454
ccgcggagccctcctaccccggcccgacgctcggcccgcgacctgccccgagccctctcc c.-1
. . . . . . g.5514
ATGGAGGCAGCCCGCCCCTCCGGCTCCTGGAACGGAGCCCTCTGCCGGCTGCTCCTGCTG c.60
M E A A R P S G S W N G A L C R L L L L p.20
| 02 . . . . . g.13833
ACCCTCGCG | ATCTTAATATTTGCCAGTGATGCCTGCAAAAATGTGACATTACATGTTCCC c.120
T L A | I L I F A S D A C K N V T L H V P p.40
. . . | 03 . . . g.15151
TCCAAACTAGATGCCGAGAAACTTGTTGGTAGAG | TTAACCTGAAAGAGTGCTTTACAGCT c.180
S K L D A E K L V G R V | N L K E C F T A p.60
. . . . . . g.15211
GCAAATCTAATTCATTCAAGTGATCCTGACTTCCAAATTTTGGAGGATGGTTCAGTCTAT c.240
A N L I H S S D P D F Q I L E D G S V Y p.80
. . . . . . g.15271
ACAACAAATACTATTCTATTGTCCTCGGAGAAGAGAAGTTTTACCATATTACTTTCCAAC c.300
T T N T I L L S S E K R S F T I L L S N p.100
. . . . . | 04 . g.16284
ACTGAGAACCAAGAAAAGAAGAAAATATTTGTCTTTTTGGAGCATCAAACAAAG | GTCCTA c.360
T E N Q E K K K I F V F L E H Q T K | V L p.120
. . . . . . g.16344
AAGAAAAGACATACTAAAGAAAAAGTTCTAAGGCGCGCCAAGAGAAGATGGGCTCCAATT c.420
K K R H T K E K V L R R A K R R W A P I p.140
. . . . . | 05 . g.17837
CCTTGTTCGATGCTAGAAAACTCCTTGGGTCCTTTTCCACTTTTCCTTCAACAG | GTTCAA c.480
P C S M L E N S L G P F P L F L Q Q | V Q p.160
. . . . . . g.17897
TCTGACACGGCCCAAAACTATACCATATACTATTCCATAAGAGGTCCTGGAGTTGACCAA c.540
S D T A Q N Y T I Y Y S I R G P G V D Q p.180
. . . . . . g.17957
GAACCTCGGAATTTATTTTATGTGGAGAGAGACACTGGAAACTTGTATTGTACTCGTCCT c.600
E P R N L F Y V E R D T G N L Y C T R P p.200
. . . | 06 . . . g.19642
GTAGATCGTGAGCAGTATGAATCTTTTGAG | ATAATTGCCTTTGCAACAACTCCAGATGGG c.660
V D R E Q Y E S F E | I I A F A T T P D G p.220
. . . . . . g.19702
TATACTCCAGAACTTCCACTGCCCCTAATAATCAAAATAGAGGATGAAAATGATAACTAC c.720
Y T P E L P L P L I I K I E D E N D N Y p.240
. . . . . | 07 . g.20688
CCAATTTTTACAGAAGAAACTTATACTTTTACAATTTTTGAAAATTGCAGAGTGG | GCACT c.780
P I F T E E T Y T F T I F E N C R V G | T p.260
. . . . . . g.20748
ACTGTGGGACAAGTGTGTGCTACTGACAAAGATGAGCCTGACACGATGCACACACGCCTG c.840
T V G Q V C A T D K D E P D T M H T R L p.280
. . . . . . g.20808
AAGTACTCCATCATTGGGCAGGTGCCACCATCACCCACCCTATTTTCTATGCATCCAACT c.900
K Y S I I G Q V P P S P T L F S M H P T p.300
. . . . | 08 . . g.24380
ACAGGCGTGATCACCACAACATCATCTCAGCTAGACAGAGAG | TTAATTGACAAGTACCAG c.960
T G V I T T T S S Q L D R E | L I D K Y Q p.320
. . . . . . g.24440
TTGAAAATAAAAGTACAAGACATGGATGGTCAGTATTTTGGTCTACAGACAACTTCAACT c.1020
L K I K V Q D M D G Q Y F G L Q T T S T p.340
. . . . . | 09. g.25002
TGTATCATTAACATTGATGATGTAAATGACCACTTGCCAACATTTACTCGTACTTCT | TAT c.1080
C I I N I D D V N D H L P T F T R T S | Y p.360
. . . . . . g.25062
GTGACATCAGTGGAAGAAAATACAGTTGATGTGGAAATCTTACGAGTTACTGTTGAGGAT c.1140
V T S V E E N T V D V E I L R V T V E D p.380
. . . . . . g.25122
AAGGACTTAGTGAATACTGCTAACTGGAGAGCTAATTATACCATTTTAAAGGGCAATGAA c.1200
K D L V N T A N W R A N Y T I L K G N E p.400
. . . . . . g.25182
AATGGCAATTTTAAAATTGTAACAGATGCCAAAACCAATGAAGGAGTTCTTTGTGTAGTT c.1260
N G N F K I V T D A K T N E G V L C V V p.420
| 10 . . . . . . g.27127
AAG | CCTTTGAATTATGAAGAAAAGCAACAGATGATCTTGCAAATTGGTGTAGTTAATGAA c.1320
K | P L N Y E E K Q Q M I L Q I G V V N E p.440
. . . . . . g.27187
GCTCCATTTTCCAGAGAGGCTAGTCCAAGATCAGCCATGAGCACAGCAACAGTTACTGTT c.1380
A P F S R E A S P R S A M S T A T V T V p.460
. . . . . . g.27247
AATGTAGAAGATCAGGATGAGGGCCCTGAGTGTAACCCTCCAATACAGACTGTTCGCATG c.1440
N V E D Q D E G P E C N P P I Q T V R M p.480
. . . . . . g.27307
AAAGAAAATGCAGAAGTGGGAACAACAAGCAATGGATATAAAGCATATGACCCAGAAACA c.1500
K E N A E V G T T S N G Y K A Y D P E T p.500
. . | 11 . . . . g.27473
AGAAGTAGCAGTGGCATAAG | GTATAAGAAATTAACTGATCCAACAGGGTGGGTCACCATT c.1560
R S S S G I R | Y K K L T D P T G W V T I p.520
. . . . . . g.27533
GATGAAAATACAGGATCAATCAAAGTTTTCAGAAGCCTGGATAGAGAGGCAGAGACCATC c.1620
D E N T G S I K V F R S L D R E A E T I p.540
. . . . | 12 . . g.32532
AAAAATGGCATATATAATATTACAGTCCTTGCATCAGACCAAG | GAGGGAGAACATGTACG c.1680
K N G I Y N I T V L A S D Q G | G R T C T p.560
. . . . . . g.32592
GGGACACTGGGCATTATACTTCAAGACGTGAATGATAACAGCCCATTCATACCTAAAAAG c.1740
G T L G I I L Q D V N D N S P F I P K K p.580
. . . . . . g.32652
ACAGTGATCATCTGCAAACCCACCATGTCATCTGCGGAGATTGTTGCGGTTGATCCTGAT c.1800
T V I I C K P T M S S A E I V A V D P D p.600
. . . . . . g.32712
GAGCCTATCCATGGCCCACCCTTTGACTTTAGTCTGGAGAGTTCTACTTCAGAAGTACAG c.1860
E P I H G P P F D F S L E S S T S E V Q p.620
. . | 13 . . . g.35613
AGAATGTGGAGACTGAAAGCAATTAATG | ATACAGCAGCACGTCTTTCCTATCAGAATGAT c.1920
R M W R L K A I N D | T A A R L S Y Q N D p.640
. . . . . . g.35673
CCTCCATTTGGCTCATATGTAGTACCTATAACAGTGAGAGATAGACTTGGCATGTCTAGT c.1980
P P F G S Y V V P I T V R D R L G M S S p.660
. . . . . . g.35733
GTCACTTCATTGGATGTTACACTGTGTGACTGCATTACCGAAAATGACTGCACACATCGT c.2040
V T S L D V T L C D C I T E N D C T H R p.680
. . . . . . g.35793
GTAGATCCAAGGATTGGCGGTGGAGGAGTACAACTTGGAAAGTGGGCCATCCTTGCAATA c.2100
V D P R I G G G G V Q L G K W A I L A I p.700
. . | 14 . . . . g.36607
TTGTTGGGCATAGCATTGCTCTTTT | GCATCCTGTTTACGCTGGTCTGTGGGGCTTCTGGG c.2160
L L G I A L L F C | I L F T L V C G A S G p.720
. . . . . . g.36667
ACGTCTAAACAACCAAAAGTAATTCCTGATGATTTAGCCCAGCAGAACCTAATTGTATCA c.2220
T S K Q P K V I P D D L A Q Q N L I V S p.740
. . . | 15 . . . g.38301
AACACAGAAGCTCCTGGAGATGACAAAGTG | TATTCTGCGAATGGCTTCACAACCCAAACT c.2280
N T E A P G D D K V | Y S A N G F T T Q T p.760
. . . . . . g.38361
GTGGGCGCTTCTGCTCAGGGAGTTTGTGGCACCGTGGGATCAGGAATCAAAAACGGAGGT c.2340
V G A S A Q G V C G T V G S G I K N G G p.780
. . . . . . g.38421
CAGGAGACCATCGAAATGGTGAAAGGAGGACACCAGACCTCGGAATCCTGCCGGGGGGCT c.2400
Q E T I E M V K G G H Q T S E S C R G A p.800
. . . . . . g.38481
GGCCACCATCACACCCTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGA c.2460
G H H H T L D S C R G G H T E V D N C R p.820
. . . . | 16 . g.39090
TACACTTACTCGGAGTGGCACAGTTTTACTCAGCCCCGTCTTGGTGAA | GAATCCATTAGA c.2520
Y T Y S E W H S F T Q P R L G E | E S I R p.840
. . g.39114
GGACACACTCTGATTAAAAATTAA | c.2545
G H T L I K N X p.847
. | 17 . . . . . g.39260
acaatgaaag | aaagtgtatctgtgtaatcaagatgaaaatcacaagcatgcccaagacta c.*60
. . . . . . g.39320
tgtcctgacatataactatgaaggaagaggatcggtggctgggtctgtaggttgttgcag c.*120
. . . . . . g.39380
tgaacgacaagaagaagatgggcttgaatttttggataatttggagcccaaatttaggac c.*180
. . . . . . g.39440
actagcagaagcatgcatgaagagatgagtgtgttctaataagtctctgaaagccagtgg c.*240
. . . . . . g.39500
ctttatgacttttaaaaaaaattacaaaccaagaattttttaaagcagaagatgctattt c.*300
. . . . . . g.39560
gtgggggtttttctctcattatttggatggaatctctttggtcaaatgcacatttacaga c.*360
. . . . . . g.39620
gagacactataaacaagtacacaaatttttcaatttttacatatttttaaattacttatc c.*420
. . . . . . g.39680
ttctatccaaggaggtctacagagaaattaaagtctgccttatttgttacatttgggtat c.*480
. . . . . . g.39740
aatgacaacagccaatttatagtgcaataaaatgtaattaattcaagtccttattataga c.*540
. . . . . . g.39800
ctatttgaagcacaacctaatggaaaattgtagagaccttgctttaacattatctccagt c.*600
. . . . . . g.39860
taattaagtgttcatgtggtgcttggaaactgttgttttcctgaacatctaaagtgtgta c.*660
. . . . . . g.39920
gactgcattcttgctattattttattcttgtaatgtgaccttttcactgtgcaaagggag c.*720
. . . . . . g.39980
atttctagccaggcattgactattacaatttcattttggtggagtttagttttaggtttt c.*780
. . . . . . g.40040
attgtatataaaatcctgcactgaatctgtgtctcctctgttacctacttttgccagtga c.*840
. . . . . . g.40100
aatttaagttttaaaatactttcagaatgtatttttactactgcaagtttttggtcttta c.*900
. . . . . . g.40160
aaatgtcaagtagcatctctctctttctctctgtctctttctgtttctctctccagtttt c.*960
. . . . . . g.40220
ttttttttttttaatttccatatgggctaaagaatccaaatattttaaaaatctgtctct c.*1020
. . . . . . g.40280
cttttcttctctcataaagtgaattattccttttttttgttttatgtaagtgtatatatt c.*1080
. . . . . . g.40340
cttagtttttcttgaaatcattgtaatgttaactttgttgtttcaaatatcttggtgatt c.*1140
. . . . . . g.40400
gcttcattatctcttcaacaaaaaaaacctttaattttgccattgaaactgtagaactat c.*1200
. . . . . . g.40460
gccatgcttttattagaagcagtgctctgtgttaacaacaagaatggtgtaattagaatt c.*1260
. . . . . . g.40520
gggatgtggatatttactgtatgacaacacatttacagttctgtaatgcaaggatgcagt c.*1320
. . . . . . g.40580
ttaaaaatgtgaagtagtgatggtttttgaaataagctttaaaatatagggatcttgaag c.*1380
. . . . . . g.40640
gctccctggggtaactattttataacttagataaaatggctagtcatatctgtgtgtttg c.*1440
. . . . . . g.40700
taaagttatttttttaatattttaagattacaattttaacaaatgtagaaatgagccaaa c.*1500
. . . . . . g.40760
ctatttaaattttaaaacagtaaaacaaaatgaaacttaatagctcacaaaattccagtc c.*1560
. . . . . . g.40820
catgtttcatgacttattttagtcaatgaattttctatttatactaaacatatggacatt c.*1620
. . . . . . g.40880
ttaaatgtgtttctaatatttttgattatctataatgtgcctgtcttcaattcacaagat c.*1680
. . . . . . g.40940
tgggttataacaattatttgccagattaacactagggaattatttgataaccagcttatc c.*1740
. . . . . . g.41000
ttatcagtagttttattgctgatcaggcaaaaatagttttccaaagttatttttaataaa c.*1800
. . . . . . g.41060
gtatatacaaaattcttatatattactagtcatgataaagtaaattaagcagtttttaaa c.*1860
. . . . . . g.41120
acttagtgtgagtttgttcatcacaggtctgatatgagtttaagggatttcgcactccct c.*1920
. . . . . . g.41180
gaatcagagaagtaagaccccttccttagattcctgttatacattttttaaaatgtagag c.*1980
. . . . . . g.41240
tttgttttggagacattttcagtgcattgttattgccatatttatataatatgactattc c.*2040
. . . . . . g.41300
taaaggctgtgaggccatggggtattggttaagttgcttgcttttgctttgtccattttc c.*2100
. . . . . . g.41360
atcattttaaaatgggggataataacagaacttgtttcctagggccattgtaagtcactt c.*2160
. . . . . . g.41420
gaataaaaaatagttttgaagcatgagagtcatacagagcggtccacctaaaaggcactc c.*2220
. . g.41447
ctgataataataaatgattttaaacaa c.*2247
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center