(used for mutation description)
(last modified May 24, 2012)
This file was created to facilitate the description of sequence variants in the TRDN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030438.1, covering TRDN transcript NM_006073.3.
(upstream sequence)
. g.5018
ctctagagtgccaaaaaa c.-301
. . . . . . g.5078
gaaaaaaaaaagtgctgaagagtcctagggagatgaggctatttttgtttgaagctgata c.-241
. . . . . . g.5138
cttctagctgagccacaagtgctgcttggaaagggcttaggttgtttccagggggagaac c.-181
. . . . . . g.5198
tctgcagaggagaggcaaagttcaacaggacaacaaagaagcagcagaaacagccaggaa c.-121
. . . . . . g.5258
aacgaagagcccccaggttttgacacagaaccctccaccagagttctcaaatccccaaat c.-61
. . . . . . g.5318
actctgcaaagtgcaacttgacgggaacttttcaactgacttttacttttgacgaccacc c.-1
. . | 02 . . . . g.70999
ATGACTGAGATCACTGCTGAAG | GAAATGCATCTACAACCACAACTGTGATAGACAGCAAA c.60
M T E I T A E G | N A S T T T T V I D S K p.20
. . . . . . g.71059
AATGGATCTGTGCCCAAATCCCCCGGAAAAGTGCTGAAGAGGACAGTCACAGAAGACATA c.120
N G S V P K S P G K V L K R T V T E D I p.40
. . . . . . g.71119
GTGACGACGTTCAGCTCCCCTGCAGCCTGGCTTCTGGTCATTGCCCTGATAATCACGTGG c.180
V T T F S S P A A W L L V I A L I I T W p.60
. . . . . | 03 . g.93489
TCAGCTGTTGCCATCGTTATGTTTGATTTAGTGGATTACAAAAACTTTTCAG | CAAGCTCT c.240
S A V A I V M F D L V D Y K N F S A | S S p.80
. . . . . . g.93549
ATTGCCAAGATTGGCTCAGATCCTTTAAAACTGGTACGTGATGCTATGGAGGAAACCACG c.300
I A K I G S D P L K L V R D A M E E T T p.100
. . . . . . g.93609
GACTGGATCTATGGCTTCTTTTCTTTGTTATCTGACATCATCTCATCTGAAGATGAAGAA c.360
D W I Y G F F S L L S D I I S S E D E E p.120
. . . | 04 . . . g.94750
GATGATGATGGTGACGAAGATACTGATAAAG | GAGAAATAGATGAGCCTCCCTTGAGAAAA c.420
D D D G D E D T D K G | E I D E P P L R K p.140
| 05 . . . . . . g.111584
AAAG | AAATACACAAAGATAAGACTGAAAAACAAGAGAAACCTGAAAGGAAAATACAAACT c.480
K E | I H K D K T E K Q E K P E R K I Q T p.160
| 06 . . . . . . g.125943
AAAG | TTACACACAAAGAAAAAGAAAAAGGAAAAGAAAAAGTAAGAGAAAAAGAAAAACCT c.540
K V | T H K E K E K G K E K V R E K E K P p.180
. | 07 . . . . . g.129781
GAAAAGAAAG | CAACTCACAAGGAAAAAATTGAGAAAAAAGAAAAACCAGAAACAAAGACA c.600
E K K A | T H K E K I E K K E K P E T K T p.200
. | 08 . . . . . g.138242
CTGGCGAAAG | AACAGAAGAAAGCTAAGACTGCAGAAAAGAGTGAAGAAAAGACTAAAAAG c.660
L A K E | Q K K A K T A E K S E E K T K K p.220
. . . . . . g.138302
GAAGTGAAAGGTGGAAAACAGGAGAAAGTGAAGCAAACAGCTGCAAAAGTAAAAGAAGTA c.720
E V K G G K Q E K V K Q T A A K V K E V p.240
. . . . . . g.138362
CAGAAAACACCATCAAAACCCAAAGAAAAGGAGGACAAAGAGAAAGCAGCTGTGTCAAAG c.780
Q K T P S K P K E K E D K E K A A V S K p.260
. | 09 . . . . . g.144888
CATGAACAGAAAG | ATCAGTATGCATTCTGTCGATATATGATTGACATATTTGTCCATGGG c.840
H E Q K D | Q Y A F C R Y M I D I F V H G p.280
. | 10 . . . . . g.177157
GATTTAAAACCAG | GACAAAGCCCAGCCATTCCACCTCCCTTACCGACAGAACAAGCTTCC c.900
D L K P G | Q S P A I P P P L P T E Q A S p.300
. . . | 11 . . . g.203119
AGACCCACTCCGGCATCACCTGCCCTTGAAG | AAAAAGAAGGGGAAAAGAAGAAGGCTGAG c.960
R P T P A S P A L E E | K E G E K K K A E p.320
. . . | 12 . . . g.204000
AAGAAAGTTACTTCTGAAACAAAAAAGAAAG | AAAAAGAAGATATCAAAAAGAAAAGTGAG c.1020
K K V T S E T K K K E | K E D I K K K S E p.340
. . . | 13 . . . g.248445
AAGGAAACTGCCATTGATGTGGAAAAAAAAG | AGCCGGGAAAAGCTTCTGAAACCAAACAA c.1080
K E T A I D V E K K E | P G K A S E T K Q p.360
. . | 14 . . . | 15 . g.259951
GGGACTGTAAAAATTGCAGCACAAG | CAGCAGCTAAGAAGGATGAAAAGAAGGAAG | ATTCC c.1140
G T V K I A A Q A | A A K K D E K K E D | S p.380
. . | 16 . . | 17 . . g.264209
AAGAAAACAAAAAAACCTGCAGAAG | TAGAACAACCCAAGGGAAAAA | AACAGGAAAAGAAA c.1200
K K T K K P A E V | E Q P K G K K | Q E K K p.400
. | 18 . . | 19 . . g.266476
GAAAAACATGTGGAACCAG | CAAAGTCACCAAAGAAAGAACACTCAG | TTCCAAGTGACAAA c.1260
E K H V E P A | K S P K K E H S V | P S D K p.420
. | 20 . . . . . g.275958
CAAGTAAAAGCAA | AAACTGAACGAGCCAAAGAGGAGATTGGTGCGGTTTCAATTAAAAAA c.1320
Q V K A K | T E R A K E E I G A V S I K K p.440
| 21 . . . . | 22 . g.304435
G | CTGTACCTGGAAAGAAGGAAGAGAAAACAACCAAGACAGTGGAGCAAG | AAATTAGAAAA c.1380
A | V P G K K E E K T T K T V E Q E | I R K p.460
. . . . | 23 . . g.310184
GAAAAATCTGGGAAGACTTCTTCAATTCTGAAAGATAAAG | AACCTATTAAAGGGAAAGAA c.1440
E K S G K T S S I L K D K E | P I K G K E p.480
. . . | 24 . . . g.325627
GAGAAAGTTCCAGCTTCCCTAAAGGAAAAAG | AACCTGAAACTAAAAAAGATGAAAAGATG c.1500
E K V P A S L K E K E | P E T K K D E K M p.500
. | 25 . . | 26. . . g.363769
TCCAAAGCAG | GCAAAGAAGTCAAGCCTAAACCTCCAC | AACTACAAGGAAAAAAGGAAGAG c.1560
S K A G | K E V K P K P P Q | L Q G K K E E p.520
| 27. . . | 28. . . g.368753
AAGCCAG | AGCCCCAAATTAAAAAAGAAGCAAAACCAG | CTATATCTGAAAAAGTGCAAATA c.1620
K P E | P Q I K K E A K P A | I S E K V Q I p.540
| 29 . . . . . | 30 . g.370915
CACA | AACAAGACATAGTGAAACCAGAAAAGACTGTTTCTCATGGTAAACCAG | AAGAAAAA c.1680
H K | Q D I V K P E K T V S H G K P E | E K p.560
. . . . | 31 . | 32 g.374344
GTTCTCAAGCAGGTAAAAGCTGTCACAATAGAAAAAACAG | CCAAGCCCAAACCAACAA | AA c.1740
V L K Q V K A V T I E K T A | K P K P T K | p.580
. . . . | 33 . . g.376772
AAAGCTGAACATCGAGAAAGAGAACCTCCATCTATAAAAACAG | ACAAACCAAAACCAACT c.1800
K A E H R E R E P P S I K T D | K P K P T p.600
| 34 . . . | 35 . . . g.382460
CCAA | AAGGAACATCAGAAGTCACAGAATCAG | GAAAGAAGAAAACTGAAATATCTGAAAAA c.1860
P K | G T S E V T E S G | K K K T E I S E K p.620
. | 36 . . . | 37 . . g.386982
GAAAGTAAAG | AAAAAGCAGACATGAAGCATCTTAGAGAAGAAAAAG | TCTCAACAAGAAAA c.1920
E S K E | K A D M K H L R E E K V | S T R K p.640
. . . | 38 . . | 39 . g.417967
GAAAGTCTTCAATTACACAATGTGACAAAAG | CAGAAAAACCTGCAAGAGTATCAA | AAGAT c.1980
E S L Q L H N V T K A | E K P A R V S K | D p.660
. . . | 40 . . . g.420597
GTTGAAGATGTACCAGCTTCAAAGAAAGCTAAAG | AAGGAACTGAAGATGTGTCTCCCACA c.2040
V E D V P A S K K A K E | G T E D V S P T p.680
. | 41 . . . . . g.423403
AAGCAGAAAA | GTCCCATCAGTTTCTTCCAGTGTGTCTACTTGGATGGGTACAATGGCTAT c.2100
K Q K S | P I S F F Q C V Y L D G Y N G Y p.700
. . . . . . g.423463
GGATTTCAGTTTCCTTTCACTCCTGCAGACCGCCCTGGAGAGAGCTCTGGTCAAGCAAAT c.2160
G F Q F P F T P A D R P G E S S G Q A N p.720
. . . g.423493
TCTCCAGGACAGAAGCAACAAGGACAGTAA c.2190
S P G Q K Q Q G Q X p.729
. . . . . . g.423553
acacacatgtatgacccttacaagtgctttaagattttaaaaatgtgatgttttgtccac c.*60
. . . . . . g.423613
agtagttcaggcaattaagaatatgcaacccagagaatttctgtgaaaacattttgctct c.*120
. . . . . . g.423673
ttggcctggtgtggacggaaagggtggccaaatggattgagtgatgagcagacatgttta c.*180
. . . . . . g.423733
agggtctaagtctcaagaatctgttatgtgtgtttgctgcggtgggagggggtgcttgta c.*240
. . . . . . g.423793
tttatcttatttccagtcactataaggttgtacacaaactaatttaaagtttacttaata c.*300
. . . . . . g.423853
atggtatctttaaaataattgacacaattgcaaaatgaattcctggcttcagttagctat c.*360
. . . . . . g.423913
tatttttttaatgacaacatagactgtgctctaagtttaaaagatggggaagcttatata c.*420
. . . . . . g.423973
aaagtgacccttttgcatcatatgggtatctaaacttaatttacccaataagttgatgct c.*480
. . . . . . g.424033
taatgattttattttatttttgtctatttctattttagttgtggctttgctctaagaatg c.*540
. . . . . . g.424093
ggtaatagttgtactacagactgctataaatttcttgtgatactcttttagagctcaaaa c.*600
. . . . . . g.424153
tatctctgagctttagacatggtaaggtggagagtaaatgcttgataaatctttaagata c.*660
. . . . . . g.424213
tgtcttgaatgataattaggacattcagtccagtggaaatacaccattcaattagtcagg c.*720
. . . . . . g.424273
tctggtgaatcgtttgtttaaaatattagcaaatgagatgtggaattctgaaatttctcc c.*780
. . . . . . g.424333
agactgtgtcttaataaaaatgtcacctgggtgaaattttagatcaatcactaaatttgg c.*840
. . . . . . g.424393
gtgacaaatataaaaatattttcatttcactttaatacattctttctgtgaagtaaaatg c.*900
. . . . . . g.424453
tttttctttctcataatggcaaaatatgaatgccatcaaagtttaaggaattcattttag c.*960
. . . . . . g.424513
ccttaaatgccttcgtgagatgtcttacttgtattttaggtaactggtcatcagtgccaa c.*1020
. . . . . . g.424573
tgacatggataacaatttttaatctactcgacagtgcatccctgggaatgactgttatgt c.*1080
. . . . . . g.424633
ttttgtcatattcctggtaatataaatactcgtgttctttactacattgtttttatcaac c.*1140
. . . . . . g.424693
tctaaaagtcatgcctctgtgacctttatcatgtttacaattgcaactgaacttatgaca c.*1200
. . . . . . g.424753
aattaactcaggaaataaattgagttatcctttctagcattgtaattaccatcagcaagg c.*1260
. . . . . . g.424813
cctgagatagccagagccaatactagccaagtgatttattttcaaggattgccactaact c.*1320
. . . . . . g.424873
acggttctttaggaccaagatataaaacagtcactaaaaatcattaggctaggtatcagt c.*1380
. . . . . . g.424933
aatacattcattactaataatgcatttttggagacttttgtgaaagaagttggtctctgc c.*1440
. . . . . . g.424993
caaaagctggtggaccacattcacaccacgaaagccagtgtcacatgaaccagattaatg c.*1500
. . . . . . g.425053
actctctttatggggtatgtgggacatcctggaagtgtataatttcaggaatgaccagac c.*1560
. . . . . . g.425113
aataccatcttgcaaagccccttcaggtgacaatctaaacttgtgggtaggagagtgcat c.*1620
. . . . . . g.425173
aaagtttattgctcaactgctcctccagcctgctgaatttactgagtaaagaaatagcaa c.*1680
. . . . . . g.425233
atatgatagatgttttagatttcatagaacagaatggtttgtccattaattctttcattc c.*1740
. . . . . . g.425293
aatgactgtttattgaatacctactcttttagggcgctgtgttaggtgctgtattgtaca c.*1800
. . . . . . g.425353
agaaaaatataataaattagattcccagcgctattctgacatagtgaatgaccttgaaaa c.*1860
. . . . . . g.425413
atttactaaacatactatgtttgtttctccatgagtaaaatagggatatagggacaaaca c.*1920
. . . . . . g.425473
gtctaatatctcatagaaataccatggagacaaataaaatattttaatataaatatgata c.*1980
. . . . . . g.425533
ttaaagtaaatttctgaagtaatacttttgggtatggcactagtttttcctctgactatt c.*2040
. . . . . . g.425593
ttactgtttctttcactctcaatataaaaactatttgataagataaaacgatatatttta c.*2100
. . . . . . g.425653
ttgtaattagaatttagacaaatcagctataatgtaaaaatgttaataataattacgttt c.*2160
. . . . . . g.425713
tatctgattaaagttacaatgatcatagcactttaaaaatattatctgaactgtcatttg c.*2220
. . . . g.425755
tttatatattaccgtctaataaaatagttatagatcttccaa c.*2262
(downstream sequence)
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