(used for variant description)
(last modified March 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000255.3 in the MUT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007100.1, covering MUT transcript NM_000255.3.
(upstream sequence)
. . g.4836
aaacgtcatcaggaatgcgcccatg c.-241
. . . . . . g.4896
agagcgctattagattggctggagggagggcggtgtcggcctacgcccccagagtcgtcc c.-181
. . . . . . g.4956
ggctgacgctggcggtggcgcggtttgtgtgggcttggtgagggcggggaggcctggctg c.-121
. . . . . . g.5016
tgtggatgtctgacaggtgaggcgggggacgcagaagtgcagccgccctctcccacagcg c.-61
. . . | 02 . . . g.8673
gagtccaaaacaggcctacca | gtcagttcttatttctattgggtgtttccatgctccacc c.-1
. . . . . . g.8733
ATGTTAAGAGCTAAGAATCAGCTTTTTTTACTTTCACCTCATTACCTGAGGCAGGTAAAA c.60
M L R A K N Q L F L L S P H Y L R Q V K p.20
. . . . . . g.8793
GAATCATCAGGCTCCAGGCTCATACAGCAACGACTTCTACACCAGCAACAGCCCCTTCAC c.120
E S S G S R L I Q Q R L L H Q Q Q P L H p.40
. . . . . . g.8853
CCAGAATGGGCTGCCCTGGCTAAAAAGCAGCTGAAAGGCAAAAACCCAGAAGACCTAATA c.180
P E W A A L A K K Q L K G K N P E D L I p.60
. . . . . . g.8913
TGGCACACCCCGGAAGGGATCTCTATAAAACCCTTGTATTCCAAGAGAGATACTATGGAC c.240
W H T P E G I S I K P L Y S K R D T M D p.80
. . . . . . g.8973
TTACCTGAAGAACTTCCAGGAGTGAAGCCATTCACACGTGGACCATATCCTACCATGTAT c.300
L P E E L P G V K P F T R G P Y P T M Y p.100
. . . . . . g.9033
ACCTTTAGGCCCTGGACCATCCGCCAGTATGCTGGTTTTAGTACTGTGGAAGAAAGCAAT c.360
T F R P W T I R Q Y A G F S T V E E S N p.120
. . | 03 . . . . g.10116
AAGTTCTATAAGGACAACATTAAGG | CTGGTCAGCAGGGATTATCAGTTGCCTTTGATCTG c.420
K F Y K D N I K A | G Q Q G L S V A F D L p.140
. . . . . . g.10176
GCGACACATCGTGGCTATGATTCAGACAACCCTCGAGTTCGTGGTGATGTTGGAATGGCT c.480
A T H R G Y D S D N P R V R G D V G M A p.160
. . . . . . g.10236
GGAGTTGCTATTGACACTGTGGAAGATACCAAAATTCTTTTTGATGGAATTCCTTTAGAA c.540
G V A I D T V E D T K I L F D G I P L E p.180
. . . . . . g.10296
AAAATGTCAGTTTCCATGACTATGAATGGAGCAGTTATTCCAGTTCTTGCAAATTTTATA c.600
K M S V S M T M N G A V I P V L A N F I p.200
. . . . . . g.10356
GTAACTGGAGAAGAACAAGGTGTACCTAAAGAGAAGCTTACTGGTACCATCCAAAATGAT c.660
V T G E E Q G V P K E K L T G T I Q N D p.220
. . . . . . g.10416
ATACTAAAGGAATTTATGGTTCGAAATACATACATTTTTCCTCCAGAACCATCCATGAAA c.720
I L K E F M V R N T Y I F P P E P S M K p.240
. . . | 04 . . . g.11929
ATTATTGCTGACATATTTGAATATACAGCAAAG | CACATGCCAAAATTTAATTCAATTTCA c.780
I I A D I F E Y T A K | H M P K F N S I S p.260
. . . . . . g.11989
ATTAGTGGATACCATATGCAGGAAGCAGGGGCTGATGCCATTCTGGAGCTGGCCTATACT c.840
I S G Y H M Q E A G A D A I L E L A Y T p.280
. . . . . . g.12049
TTAGCAGATGGATTGGAGTACTCTAGAACTGGACTCCAGGCTGGCCTGACAATTGATGAA c.900
L A D G L E Y S R T G L Q A G L T I D E p.300
. | 05 . . . . . g.14432
TTTGCACCAAG | GTTGTCTTTCTTCTGGGGAATTGGAATGAATTTCTATATGGAAATAGCA c.960
F A P R | L S F F W G I G M N F Y M E I A p.320
. . . . . . g.14492
AAGATGAGAGCTGGTAGAAGACTCTGGGCTCACTTAATAGAGAAAATGTTTCAGCCTAAA c.1020
K M R A G R R L W A H L I E K M F Q P K p.340
. . . . . . g.14552
AACTCAAAATCTCTTCTTCTAAGAGCACACTGTCAGACATCTGGATGGTCACTTACTGAG c.1080
N S K S L L L R A H C Q T S G W S L T E p.360
| 06 . . . . . . g.16482
CAG | GATCCCTACAATAATATTGTCCGTACTGCAATAGAAGCAATGGCAGCAGTATTTGGA c.1140
Q | D P Y N N I V R T A I E A M A A V F G p.380
. . . . . . g.16542
GGGACTCAGTCTTTGCACACAAATTCTTTTGATGAAGCTTTGGGTTTGCCAACTGTGAAA c.1200
G T Q S L H T N S F D E A L G L P T V K p.400
. . . . . . g.16602
AGTGCTCGAATTGCCAGGAACACACAAATCATCATTCAAGAAGAATCTGGGATTCCCAAA c.1260
S A R I A R N T Q I I I Q E E S G I P K p.420
. . . . . . g.16662
GTGGCTGATCCTTGGGGAGGTTCTTACATGATGGAATGTCTCACAAATGATGTTTATGAT c.1320
V A D P W G G S Y M M E C L T N D V Y D p.440
. | 07 . . . . . g.19260
GCTGCTTTAAAG | CTCATTAATGAAATTGAAGAAATGGGTGGAATGGCCAAAGCTGTAGCT c.1380
A A L K | L I N E I E E M G G M A K A V A p.460
. . . . . . g.19320
GAGGGAATACCTAAACTTCGAATTGAAGAATGTGCTGCCCGAAGACAAGCTAGAATAGAT c.1440
E G I P K L R I E E C A A R R Q A R I D p.480
| 08 . . . . . . g.20410
TCTG | GTTCTGAAGTAATTGTTGGAGTAAATAAGTACCAGTTGGAAAAAGAAGACGCTGTA c.1500
S G | S E V I V G V N K Y Q L E K E D A V p.500
. . . . . . g.20470
GAAGTTCTGGCAATTGATAATACTTCAGTGCGAAACAGGCAGATTGAAAAACTTAAGAAG c.1560
E V L A I D N T S V R N R Q I E K L K K p.520
| 09 . . . . . . g.23445
| ATCAAATCCAGCAGGGATCAAGCTTTGGCTGAACGTTGTCTTGCTGCACTAACCGAATGT c.1620
| I K S S R D Q A L A E R C L A A L T E C p.540
. . . . . | 10 . g.26172
GCTGCTAGCGGAGATGGAAATATCCTGGCTCTTGCAGTGGATGCATCTCGGGCAAG | ATGT c.1680
A A S G D G N I L A L A V D A S R A R | C p.560
. . . . . . g.26232
ACAGTGGGAGAAATCACAGATGCCCTGAAAAAGGTATTTGGTGAACATAAAGCGAATGAT c.1740
T V G E I T D A L K K V F G E H K A N D p.580
. . . . . . g.26292
CGAATGGTGAGTGGAGCATATCGCCAGGAATTTGGAGAAAGTAAAGAGATAACATCTGCT c.1800
R M V S G A Y R Q E F G E S K E I T S A p.600
| 11 . . . . . g.27838
ATCAAGAG | GGTTCATAAATTCATGGAACGTGAAGGTCGCAGACCTCGTCTTCTTGTAGCA c.1860
I K R | V H K F M E R E G R R P R L L V A p.620
. . . . . . g.27898
AAAATGGGACAAGATGGCCATGACAGAGGAGCAAAAGTTATTGCTACAGGATTTGCTGAT c.1920
K M G Q D G H D R G A K V I A T G F A D p.640
. . . | 12 . . . g.32540
CTTGGTTTTGATGTGGACATAGGCCCTCTTTTCCAG | ACTCCTCGTGAAGTGGCCCAGCAG c.1980
L G F D V D I G P L F Q | T P R E V A Q Q p.660
. . . . . . g.32600
GCTGTGGATGCGGATGTGCATGCTGTGGGCATAAGCACCCTCGCTGCTGGTCATAAAACC c.2040
A V D A D V H A V G I S T L A A G H K T p.680
. . . . . . g.32660
CTAGTTCCTGAACTCATCAAAGAACTTAACTCCCTTGGACGGCCAGATATTCTTGTCATG c.2100
L V P E L I K E L N S L G R P D I L V M p.700
. . | 13 . . . . g.36319
TGTGGAGGGGTGATACCACCTCAG | GATTATGAATTTCTGTTTGAAGTTGGTGTTTCCAAT c.2160
C G G V I P P Q | D Y E F L F E V G V S N p.720
. . . . . . g.36379
GTATTTGGTCCTGGGACTCGAATTCCAAAGGCTGCCGTTCAGGTGCTTGATGATATTGAG c.2220
V F G P G T R I P K A A V Q V L D D I E p.740
. . . g.36412
AAGTGTTTGGAAAAGAAGCAGCAATCTGTATAA c.2253
K C L E K K Q Q S V X p.750
. . . . . . g.36472
tatcctctttttgttttagcttttgtctaaaatattattttagttatgatcaaagaagag c.*60
. . . . . . g.36532
agtaaagctatgtcttcaatttaatttcaatacctgatttgtactttccttgaaagcttt c.*120
. . . . . . g.36592
actttaaaataccttacttataggcctggtgtcatgctataagtatgtacatacagtttc c.*180
. . . . . . g.36652
acttcaaaaataaaaaaaaaatccctaaaaactctctatactctctataacaatacttta c.*240
. . . . . . g.36712
tcaagaactctggacaatggtattatttttaaaaatcatggtgatgtatttattagaatg c.*300
. . . . . . g.36772
tttcttataaatctgtttactttttatattaagaattaaactgtacctaaaaaaactctg c.*360
. . . . . . g.36832
actattcccatttgtcagtttagcattacattgtcttgagcaccagaaaataaaatccat c.*420
. . . . . . g.36892
atattaataaaaacctatcttgaaaaactagtggagtgtatttacgtggcaaaagagatt c.*480
. . . . . . g.36952
ttgggaggagtcctcagccaaattctaccagaatcaccttaataaaagaagtattaaaat c.*540
. . . . . . g.37012
caagcacagcaggttggaatatggggaatttgacagtatatttcttcaagtctgagttta c.*600
. . . . . . g.37072
ctttcttcctgatcatgaccatctgaccttgttatttctgggcttggctcaagaccaagg c.*660
. . . . . . g.37132
agagtggatgttgatgaacattcctttaaataaaagtgcttaggttgtagttatggcttt c.*720
. . . . . . g.37192
gtctagaatggtgatgtcaactgtgagtgtaggtctgtgatatagaaagaattcaacttt c.*780
. . . . . . g.37252
ccagatctagaaagatgctaccttgcatagatttgctccttaaacataaattgcaaaaat c.*840
. . . . . . g.37312
aaaaatatcacagagaacacctgtactttgcttactgaaagatttgctcactaaagaagg c.*900
. . . . . . g.37372
aaagttgccatttacctgtttaacaaatctgcacatcctgcacatgttccccagaatgta c.*960
. . . . . . g.37432
aaataaaaaaagtttaaataaaaaaggaaagttgtcctttattgttaacatgatccatta c.*1020
. . . . . . g.37492
catgaatataacataaataattatcttttttaataaatttctattgtattagatcagaga c.*1080
. . . . . . g.37552
gcagtcttttggaaagtattatagatacattactgtagaatttacaaactcattgtaata c.*1140
. . . . . . g.37612
caatgtatttaattttcagaatatgattatctgaatggtattgtcatgattattgttccc c.*1200
. . . . . . g.37672
attttcagatgaacactgacttcaagtccaatgatatattcactatgccattttattgac c.*1260
. . . . . . g.37732
ttttccttgtaaagcaatgcacactaatttagtaagtatttggtttctgtgatgtgttca c.*1320
. . . . g.37780
gttgcgtgctgggtgacatgtgaaataaactcatccttgaggaattta c.*1368
(downstream sequence)
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