(used for variant description)
(last modified June 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_181789.2 in the GLDN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054933.1, covering GLDN transcript NM_181789.2.
(upstream sequence)
. . . . g.5049
ctctgggctgctcgggcgccaccactactgtccccatcccgccccgcca c.-121
. . . . . . g.5109
gctgggccaaagggtgacttgactcacgacgctgccaccagcccacggcttgcccgaggc c.-61
. . . . . . g.5169
gtataaaggctgccagggccgcaggctgccaagccctgccctgcccaaggcgcatagagc c.-1
. . . . . . g.5229
ATGGCCCGAGGCGCTGAGGGAGGCCGTGGGGACGCGGGTTGGGGCCTGCGTGGCGCCCTG c.60
M A R G A E G G R G D A G W G L R G A L p.20
. . . . . . g.5289
GCGGCCGTGGCGCTGCTCTCGGCGCTCAACGCTGCGGGCACGGTGTTCGCGCTGTGCCAG c.120
A A V A L L S A L N A A G T V F A L C Q p.40
. . . . . . g.5349
TGGCGCGGGCTGAGCTCGGCGCTGCGGGCTTTGGAGGCGCAGCGGGGCCGGGAGCAGCGC c.180
W R G L S S A L R A L E A Q R G R E Q R p.60
. . . . . . g.5409
GAGGACAGTGCCCTGCGCTCCTTCCTGGCCGAGTTGAGCCGCGCGCCGCGCGGGGCGTCC c.240
E D S A L R S F L A E L S R A P R G A S p.80
. . . . . . g.5469
GCACCACCCCAAGACCCGGCCAGCTCAGCTCGCAACAAGCGCAGCCACAGCGGCGAGCCC c.300
A P P Q D P A S S A R N K R S H S G E P p.100
. . . . . . g.5529
GCGCCGCATATCCGCGCCGAGAGCCATGACATGCTGATGATGATGACCTACTCCATGGTG c.360
A P H I R A E S H D M L M M M T Y S M V p.120
| 02 . . . . . | 03 . g.46925
CCG | ATCCGAGTGATGGTGGACCTGTGCAACAGCACCAAGGGCATCTGCCTCACAG | GACCT c.420
P | I R V M V D L C N S T K G I C L T G | P p.140
. | 04 . . . . . g.47316
TCTGGACCACCAG | GACCTCCGGGAGCCGGCGGGTTGCCAGGACACAACGGATTGGATGGA c.480
S G P P G | P P G A G G L P G H N G L D G p.160
. . . . . . g.47376
CAGCCTGGTCCTCAGGGCCCAAAAGGAGAAAAAGGAGCAAATGGAAAAAGAGGAAAAATG c.540
Q P G P Q G P K G E K G A N G K R G K M p.180
| 05 . . . . . . g.58378
G | GGATACCTGGAGCTGCAGGAAATCCAGGGGAAAGGGGAGAAAAGGGAGACCATGGTGAA c.600
G | I P G A A G N P G E R G E K G D H G E p.200
. . . . . . g.58438
CTGGGCCTGCAGGGAAATGAGGGCCCACCAGGGCAGAAGGGAGAAAAGGGTGACAAAGGA c.660
L G L Q G N E G P P G Q K G E K G D K G p.220
. . | 06 . . . g.60986
GATGTGTCCAACGACGTGCTCCTGGCAG | GTGCCAAAGGTGACCAAGGCCCACCCGGTCCA c.720
D V S N D V L L A G | A K G D Q G P P G P p.240
. . . . . . g.61046
CCTGGGCCCCCAGGCCCTCCAGGTCCTCCAGGGCCCCCTGGAAGCAGAAGAGCCAAAGGC c.780
P G P P G P P G P P G P P G S R R A K G p.260
. . . | 07. . . g.63699
CCTCGGCAGCCAAGCATGTTCAACGGCCAGTGCCCAG | GTGAGACTTGTGCCATACCAAAT c.840
P R Q P S M F N G Q C P G | E T C A I P N p.280
. . . . . . g.63759
GATGATACCTTGGTTGGAAAAGCTGATGAGAAAGCCAGTGAACACCATTCCCCACAAGCA c.900
D D T L V G K A D E K A S E H H S P Q A p.300
| 08 . . . . . . g.63916
G | AATCCATGATCACTTCCATTGGAAACCCAGTGCAAGTACTGAAAGTGACAGAGACATTT c.960
E | S M I T S I G N P V Q V L K V T E T F p.320
. . . . . . g.63976
GGGACTTGGATAAGAGAGTCTGCTAACAAGAGTGATGACCGGATTTGGGTGACAGAGCAT c.1020
G T W I R E S A N K S D D R I W V T E H p.340
| 09. . . . . . g.65130
TTTTCAG | GCATCATGGTTAAGGAATTCAAGGATCAGCCCTCACTTCTGAATGGCAGTTAC c.1080
F S G | I M V K E F K D Q P S L L N G S Y p.360
. . . . . . g.65190
ACGTTCATCCACCTTCCATACTATTTCCATGGCTGTGGGCACGTTGTTTACAACAACTCT c.1140
T F I H L P Y Y F H G C G H V V Y N N S p.380
. . . | 10 . . g.67783
CTCTACTACCACAAAGGGGGTTCTAATACCCTAGTGAG | ATTTGAATTTGGCCAGGAAACA c.1200
L Y Y H K G G S N T L V R | F E F G Q E T p.400
. . . . . . g.67843
TCCCAAACTCTGAAGCTTGAAAATGCCTTGTATTTTGATCGAAAATACCTTTTTGCAAAT c.1260
S Q T L K L E N A L Y F D R K Y L F A N p.420
. . . . . . g.67903
TCCAAAACTTACTTCAATCTAGCTGTAGATGAAAAGGGCCTTTGGATTATCTATGCGTCA c.1320
S K T Y F N L A V D E K G L W I I Y A S p.440
. . . . . . g.67963
AGTGTGGACGGCTCGAGCATTCTTGTAGCACAACTGGATGAGAGGACATTCTCAGTGGTG c.1380
S V D G S S I L V A Q L D E R T F S V V p.460
. . . . . . g.68023
CAACACGTCAATACCACGTACCCTAAATCCAAGGCTGGCAACGCCTTCATTGCCCGAGGA c.1440
Q H V N T T Y P K S K A G N A F I A R G p.480
. . . . . . g.68083
ATCCTCTATGTCACAGACACCAAAGATATGAGGGTCACATTTGCCTTTGATTTGTTAGGA c.1500
I L Y V T D T K D M R V T F A F D L L G p.500
. . . . . . g.68143
GGGAAACAGATCAATGCAAACTTTGATTTAAGAACTTCCCAGTCTGTTCTTGCCATGTTA c.1560
G K Q I N A N F D L R T S Q S V L A M L p.520
. . . . . . g.68203
GCATACAACATGAGAGATCAGCATTTATATTCATGGGAAGATGGCCATTTAATGCTTTAT c.1620
A Y N M R D Q H L Y S W E D G H L M L Y p.540
. . . g.68239
CCTGTGCAGTTTTTGTCAACTACCTTAAATCAGTGA c.1656
P V Q F L S T T L N Q X p.551
. . . . . . g.68299
tgtgctgcattcggctcccttcagcaaatttcaggggttttctgggaccagttctccccc c.*60
. . . . . . g.68359
aacaggaaacttgtttttttaacgtcagccagatatttagaaaataacctcaaaagtgtt c.*120
. . . . . . g.68419
tatatggtcagtgagccccgcttagtgaaatagcaacagattggaagttgaaatggctga c.*180
. . . . . . g.68479
gatttggtgatctccccacagctggctctgcaagttacctctttctccttgggccttagt c.*240
. . . . . . g.68539
ttccccattggtaatctgaattggctaagatgattggggagattttctgtacctgtaggt c.*300
. . . . . . g.68599
aatttggtgattcttggtggctgctcttctcacaacttttatgtatctgcttctgtcgtt c.*360
. . . . . . g.68659
tagcttttttagccacatgctgaccaaatttacctttgagttgataagtccagtggcttg c.*420
. . . . . . g.68719
agtagtgaatccctcagtgctgacttatatcttgttctttgaaaaaatgcattgactctt c.*480
. . . . . . g.68779
taagacatctaaagtatcacattatccataatttattgcttttctttgcatctgcacctg c.*540
. . . . . . g.68839
ccaccacagaataaccattaccctcagctgctgattgggcagctctgagattagcaaaag c.*600
. . . . . . g.68899
ccagggacagctacatgttcaggtttttttttttttttttttttcaataagctatttttt c.*660
. . . . . . g.68959
ttcttttcttattttaaatagagagagagtcttgctatgtttcccaggctggtcttgaac c.*720
. . . . . . g.69019
tcctggggctcaagtgatcctcctgccttggcctcccaaaatgctggattacaggcatgt c.*780
. . . . . . g.69079
gtgcctggcccaggtttcttaataaaacagaatcatgatcttccaggttccccccagttt c.*840
. . . . . . g.69139
ctgatcatgttgatttgtagctgtggatcatgaacactgaatcctcagatcactctgact c.*900
. . . . . . g.69199
tcttatgcttctcctgtggatccactatcaaagtactaaatgctgtgtaagtagacgtta c.*960
. . . . . . g.69259
atctggctggaaccatgggaagcactttgcagtgttcagaagagaggctccatttgtggc c.*1020
. . . . . . g.69319
tattatgtagaactgggccagagccagtccattgcctgtttttttaaataaggttttact c.*1080
. . . . . . g.69379
gagcacagccacactcatttgtttatgcagtacggcctgacattgcttttgctctgcaac c.*1140
. . . . . . g.69439
agcagagtcgagtcattgcaacaaagagcatatggccccacagtgcctaaaatattgacc c.*1200
. . . . . . g.69499
agctacccctttatggaaaaagattgctgactcctgataaagaatataaagtgagcctga c.*1260
. . . . . . g.69559
ttcttgaaaaaatcagaaccagagcctgttttgttttgttctaaactaagaagccgcata c.*1320
. . . . . . g.69619
ggatgtgacttgcgttttgagtagaggggaaggctgataacggcgtaagatgaagtggcc c.*1380
. . . . . . g.69679
ctccacaaaggctggttaggggacagttctttctctaacatagttttaaaggatgtgatc c.*1440
. . . . . . g.69739
tggtccccttggatgccaggagagaatccagttgaacttgctcctaaatgctcttaaata c.*1500
. . . . . . g.69799
tgcatattttctgccaactcacttctttaaacatctttcagcccagcgctgcggccccgg c.*1560
. . . . . . g.69859
gaagggccactgcgaatagagaggaagctggaaaagttcctggggctctgcagccaggaa c.*1620
. . . . . . g.69919
ggggaaccagggcaaatcttatgtaaagatttttcagcaacttgtcccaatttgtgtgta c.*1680
. . . . . . g.69979
ttctgaaactttctctttgggaccaaattcattctcaatggccctgagttcaatatatta c.*1740
. . . . . . g.70039
ttaacagcagtattttaaaacttagggttgaactgggcatggtggcacataactgcaatc c.*1800
. . . . . . g.70099
ccagctactttggaggcagggatgggaggatcacttgaggccaggatctcaggaccagcc c.*1860
. . . . . . g.70159
tagagagatcccatctctaaaaaataaaatataagaaaataaaacttaggggatatacag c.*1920
. . . . . . g.70219
atttaaatattcaaatctccctgctcccctgaaagtccccaggcagctgtcaatgacttg c.*1980
. . . . . . g.70279
tttgttgtgttctcaatatgatggctatttgaaacttcacctacttttcattagattggt c.*2040
. . . . . . g.70339
tgtaccatgtcaccttagcttttaaaaatactcttttcagattcacgttctctaacaaag c.*2100
. . . . . . g.70399
agtctcatgttcaagatcaatatgtctaataagtgctggtgtccttttaaagtatttaaa c.*2160
. . . . . . g.70459
tatatatgttgctgttgctgaatacaggagaccaggttaggaatatagtttcataataat c.*2220
. . . . . . g.70519
agtacatacaatactaattgtatataaggtagcaaccaaaagaggttgttaattagcaca c.*2280
. . . . . . g.70579
tattccttttagaaaaatgtttcagaaacctcagtcttgatatctgagctatctgggctc c.*2340
. . . . . . g.70639
ccttacttgtgagtaagggatcatgctcaccactggagaagcttacaccgggactttttt c.*2400
. . . . . . g.70699
tcttttttcttttttttttgctatgacagagtaatgctaacgtaaggacaactgagtttg c.*2460
. . . . . . g.70759
atcagtgtttaatcgcagtgggtaatcttatctgattgtctttaaaagtgaaaaggatta c.*2520
. . . . . . g.70819
agattttattctttcttgtaaacattacttgattttttaaagaagttttgggctcactgc c.*2580
. . . . . . g.70879
taaaatagagtatacaactgaatgtttttaagtcaagatactgttttaggagtttaccct c.*2640
. . . . . . g.70939
ctcatttataaccaaagttgctctaaaacactttccaaatatctgcacttctgatgtcag c.*2700
. . . . . . g.70999
aatcaaaccagataattctctaattcttctttaatctaaagtagatagcttcccactgga c.*2760
. . . . . . g.71059
aagtaaacaaaaccatccctcccaacctcaaagctaggccacactctatttcaaggcatt c.*2820
. . . . . . g.71119
ttctttcagctgataaggtgtcctcctgaagccaagtaggtggttctggtctccaagtat c.*2880
. . . . . . g.71179
cgttaagcacaggtgctatgacagaaaaagttctggggtggaagttttaagatgaggagt c.*2940
. . . . . . g.71239
tctgatcttaggcatcttaacagtcacaaggtgaaaagtcaaatgaaacagtacaattct c.*3000
. . . . . . g.71299
tgatgagtgaggtgtcatcttccaaccacacagaggacgttttggctatgatcatctgat c.*3060
. . . . . . g.71359
ggcaagtgaaggagaaatgagtgatagggctttgcgttttcatccagatgctgtggccct c.*3120
. . . . . . g.71419
gtgtttcacagcattaagagccataatttccaacctgcacagatcctgaacaacaaatga c.*3180
. . . . . . g.71479
ataacgatgaatgtctttttggttgtaatttaacaagtcaaataaaataatcattgctga c.*3240
. g.71498
gcacaatcacatgttgaaa c.*3259
(downstream sequence)
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