(used for variant description)
(last modified February 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_198159.2 in the MITF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011631.1, covering MITF transcript NM_198159.2.
(upstream sequence)
. . . . g.5043
gtaaactccccgcgctggggcgggcggccgcgagccggcgagc c.-121
. . . . . . g.5103
gggcagagctcggcactgcgccggggcgcacggctcgggggacccaggcccagctacctt c.-61
. . . . . . g.5163
ccctccgcccccgggctctgttctcactttccagcagtggaaggacgggaagcgggagcc c.-1
. . . . . . g.5223
ATGCAGTCCGAATCGGGGATCGTGCCGGATTTCGAAGTCGGGGAGGAGTTTCATGAAGAG c.60
M Q S E S G I V P D F E V G E E F H E E p.20
. . . . | 02 . . g.144715
CCCAAAACCTATTACGAACTCAAAAGTCAACCGCTGAAGAGCAG | CAGTTCCGCCGAGCAT c.120
P K T Y Y E L K S Q P L K S S | S S A E H p.40
. . . . . . g.144775
CCTGGGGCCTCCAAGCCTCCGATAAGCTCCTCCAGTATGACATCACGCATCTTGCTACGC c.180
P G A S K P P I S S S S M T S R I L L R p.60
. . . . . . g.144835
CAGCAACTCATGCGTGAGCAGATGCAGGAGCAGGAGCGCAGGGAGCAGCAGCAGAAGCTG c.240
Q Q L M R E Q M Q E Q E R R E Q Q Q K L p.80
. . . . . . g.144895
CAGGCGGCCCAGTTCATGCAACAGAGAGTGCCCGTGAGTCAGACACCAGCCATAAACGTC c.300
Q A A Q F M Q Q R V P V S Q T P A I N V p.100
. . . . . | 03 . g.203393
AGTGTGCCCACCACCCTTCCCTCTGCCACGCAGGTGCCGATGGAAGTCCTTAAG | GTGCAG c.360
S V P T T L P S A T Q V P M E V L K | V Q p.120
. . . . . . g.203453
ACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAG c.420
T H L E N P T K Y H I Q Q A Q R Q Q V K p.140
. . . . . . g.203513
CAGTACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGT c.480
Q Y L S T T L A N K H A N Q V L S L P C p.160
. . . . . . g.203573
CCAAACCAGCCTGGCGATCATGTCATGCCACCGGTGCCGGGGAGCAGCGCACCCAACAGC c.540
P N Q P G D H V M P P V P G S S A P N S p.180
. . . . | 04 . . g.204681
CCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAG | GGATTTTATAAGTTTGAA c.600
P M A M L T L N S N C E K E | G F Y K F E p.200
. . . . . . g.204741
GAGCAAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGT c.660
E Q N R A E S E C P G M N T H S R A S C p.220
| 05 . . . . . . g.206855
ATGCAG | ATGGATGATGTAATCGATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAA c.720
M Q | M D D V I D D I I S L E S S Y N E E p.240
. . . . | 06 . . g.214634
ATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACG | TTGCCTGTCTCGGGAAAC c.780
I L G L M D P A L Q M A N T | L P V S G N p.260
. . . . . . g.214694
TTGATTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCC c.840
L I D L Y G N Q G L P P P G L T I S N S p.280
. . . . | 07 . . g.217415
TGTCCAGCCAACCTTCCCAACATAAAAAGGGAGCTCACAG | AGTCTGAAGCAAGAGCACTG c.900
C P A N L P N I K R E L T E | S E A R A L p.300
. . . | 08. . . g.222043
GCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGA | TTGAACGAAGAAGAAGATTTAAC c.960
A K E R Q K K D N H N L I | E R R R R F N p.320
. . . . . | 09 . g.224845
ATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCC | AGACATG c.1020
I N D R I K E L G T L I P K S N D P | D M p.340
. . . . . . g.224905
CGCTGGAACAAGGGAACCATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGA c.1080
R W N K G T I L K A S V D Y I R K L Q R p.360
. . . . . . g.224965
GAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGG c.1140
E Q Q R A K E L E N R Q K K L E H A N R p.380
. . | 10 . . . . g.230451
CATTTGTTGCTCAGAATACAG | GAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTT c.1200
H L L L R I Q | E L E M Q A R A H G L S L p.400
. . . . . . g.230511
ATTCCATCCACGGGTCTCTGCTCTCCAGATTTGGTGAATCGGATCATCAAGCAAGAACCC c.1260
I P S T G L C S P D L V N R I I K Q E P p.420
. . . . . . g.230571
GTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACA c.1320
V L E N C S Q D L L Q H H A D L T C T T p.440
. . . . . . g.230631
ACTCTCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAG c.1380
T L D L T D G T I T F N N N L G T G T E p.460
. . . . . . g.230691
GCCAACCAAGCCTATAGTGTCCCCACAAAAATGGGATCCAAACTGGAAGACATCCTGATG c.1440
A N Q A Y S V P T K M G S K L E D I L M p.480
. . . . . . g.230751
GACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGA c.1500
D D T L S P V G V T D P L L S S V S P G p.500
. . . . . . g.230811
GCTTCCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGT c.1560
A S K T S S R R S S M S M E E T E H T C p.520
g.230814
TAG c.1563
X p.520
. . . . . . g.230874
cgaatcctccctgcactgcattcgcacaaactgcttcctttcttgattcgtagatttaat c.*60
. . . . . . g.230934
aacttacctgaaggggttttcttgataattttcctttaatatgaaattttttttcatgct c.*120
. . . . . . g.230994
ttatcaatagcccaggatatattttatttttagaattttgtgaaacagacttgtatattc c.*180
. . . . . . g.231054
tattttacaactacaaatgcctccaaagtattgtacaaataagtgtgcagtatctgtgaa c.*240
. . . . . . g.231114
ctgaattcaccacagactttagctttctgagcaagaggattttgcgtcagagaaatgtct c.*300
. . . . . . g.231174
gtccatttttattcaggggaaacttgatttgagatttttatgcctgtgacttccttggaa c.*360
. . . . . . g.231234
atcaaatgtaaagtttaattgaaagaatgtaaagcaaccaaaaagaaaaaaaaaaagaaa c.*420
. . . . . . g.231294
gaaagaggaaaagaaatccatactaacccttttccattttataaatgtattgattcattg c.*480
. . . . . . g.231354
gtactgccttaaagatacagtacccctctagctttgtttagtctttatactgcaaactat c.*540
. . . . . . g.231414
ttaaagaaatatgtattctgtaaaagaaaaaaaaaatgcggccttttcatgaggatcgtc c.*600
. . . . . . g.231474
tggttagaaaacataactgataccaaccgaaactgaagggagttagaccaaggctctgaa c.*660
. . . . . . g.231534
atataaagtctaatcttgctctcttttattctgtgctgttacagttttcttcatcaatga c.*720
. . . . . . g.231594
gtgtgatccagtttttcataagatattttattttgaaatggaaattaatgtcctctcaaa c.*780
. . . . . . g.231654
gtaaaatattgaggagcactgaaagtatgttttactttttttttattttatttttgcttt c.*840
. . . . . . g.231714
tgataagaaaaccgaactgggcatatttctaattggctttactatttttatttttaaatt c.*900
. . . . . . g.231774
atgttttactgttcatttgatttgtacagattctttattatcattgttcttttcaatata c.*960
. . . . . . g.231834
tttgtattaatttgtaagaatatgcatcttaaaatggcaagttttccatatttttacaac c.*1020
. . . . . . g.231894
tcactggtggttttccgcattctttgtacacccatgaaagaaaacttttatgcaaggtct c.*1080
. . . . . . g.231954
tgcatttaaaagacagctttgcgaatattttgtaaattacagtctcactcagaactgttt c.*1140
. . . . . . g.232014
ttggacacatttaaggtgtagtattaataggttaaaaccaggctttctagaaagaataaa c.*1200
. . . . . . g.232074
cttacatatttatttttaggacatgaaaatagcaatattcttggagattgataaccatag c.*1260
. . . . . . g.232134
cattaatacgcccattatggtcatttaaattggggtttatttcagcaaacttgttgaatt c.*1320
. . . . . . g.232194
tatttttaagaaagaaatactgtattgggaagttactgttacttgataacaatgttttaa c.*1380
. . . . . . g.232254
caagaagcaatgttataaagttagtttcagtgcattatctacttgtgtagtcctatgcaa c.*1440
. . . . . . g.232314
taacagtagtgttacatgtatcaagcctagatgttttatacagatgccatatagtgttat c.*1500
. . . . . . g.232374
gagccaggctgttgaatggaatttctcagtagcagcctacaactgaatagcaagtggcat c.*1560
. . . . . . g.232434
aaagcatatccattcagaatgaagtgccttaaatatagcagtagtcttttttggactagc c.*1620
. . . . . . g.232494
actgactgaactgtaatgtaggggaaagtttcatgatggtatctatagtcaagacgaaca c.*1680
. . . . . . g.232554
tgtagcatggtgcctatgtagacaatataagagcttccaattttccttcagatattttta c.*1740
. . . . . . g.232614
atattaaatatattttagtgacagagtgccaacttctttcatcaggaaaccttattcagg c.*1800
. . . . . . g.232674
agggtttttaaaaagtgtttaaatgtcaaatgtgaattggtgatgggtgatggagggttc c.*1860
. . . . . . g.232734
agagaggagtgatcgtcagatgtgtgaatggacggtttaggtgaaaataatcaactgcat c.*1920
. . . . . . g.232794
agttcccatgcacgctgggcaatgagaatccttggaaacattggtgatgctatcagtttt c.*1980
. . . . . . g.232854
atagctttatttcttaagggggtagggaaaattagttcccattctttcaacccccttaac c.*2040
. . . . . . g.232914
tgtatagctcttttcctagaatagtgacgcaaatctgcatgaacagctaattgtaccata c.*2100
. . . . . . g.232974
gtgttcattgatacaatcatagcattgtctatttttctcttcatatttatatggggggga c.*2160
. . . . . . g.233034
gggcgctggatgcaaaagttgaagatcgtgatgctatgatgttagttttccttagctgat c.*2220
. . . . . . g.233094
tttgagggtttttaaaaataaagcaaggttgactaacctacggccacgggaacaggacca c.*2280
. . . . . . g.233154
tggttaagcaaccatatagaaagctttgttgaaagaaagtatggcatcttgtaccactgc c.*2340
. . . . . . g.233214
cctgactgtcacaactcctaaccttgccattgcctgcctccccctccccttctccttaag c.*2400
. . . . . . g.233274
agacaatttctgcaggtggcaggtgagcaagcccaggagaatgctgcaatcttgggggtg c.*2460
. . . . . . g.233334
gttttatttatttcttttttgccaaatagagtgtggattcatttcaggggctagctaagc c.*2520
. . . . . . g.233394
caagaggcagtggtttgggcttgttgtttgtaacaagaaaatgatccacaccactccccc c.*2580
. . . . . . g.233454
gattcccgggtgcagaattgtaactcggggttgggcctctatatggagtgaccaaaatgc c.*2640
. . . . . . g.233514
caaaattgtccatctgcctctgagtagggcaatggaaataccaaaccttctgactttgcc c.*2700
. . . . . . g.233574
aaaaagcatacaagcaacctggtcatacataggatgacaaaattctttctggttgttttt c.*2760
. . . . . . g.233634
aaacaataaagcaataagaacaaatacaatacataggaagttaaaagcacaaaggaatga c.*2820
. . . . . . g.233694
acttattaatatttttgaaaaatgcactgggaaaaagttgatgtcaataacagtataaaa c.*2880
. . . . . . g.233754
cagccctatttcttgataaaaaatgacaaatgactgtctcttgcggatgcttggtactgt c.*2940
. . . . . . g.233814
aatgttaataatagtcacctgctgttggatgcagcaataatttctgtatggtccatagca c.*3000
. . . . . . g.233874
ctgtatattatggatcgatattaatgtatccaatgaaataatcgacttgttcttgatagc c.*3060
. . g.233903
ctcattaaagcatttggtttttcacatag c.*3089
(downstream sequence)
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