(used for variant description)
(last modified October 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005664.3 in the MKRN3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012875.1, covering MKRN3 transcript NM_005664.3.
(upstream sequence)
. . . . . g.5056
tgtttcagaatctataggattatattttttttaaggcagacagatacgaaaataca c.-421
. . . . . . g.5116
acgaagcgtgcatgaccgaaaccagaagagattaaagtaaaacctcattctcctgaggaa c.-361
. . . . . . g.5176
atcgtgtgagaagggacttagggactgccggaacacagcgaagcagaggcagaaggcaga c.-301
. . . . . . g.5236
caaaaggggctgggttggtccccgcctgtgtgaacgaaaaaatatgtcagattggaaaat c.-241
. . . . . . g.5296
tgcggtaaaaaccaggcagagcacgtacgttgcccccacaggaagtgtccgccatgctgc c.-181
. . . . . . g.5356
ctgtgcccggaagtaggtaggaacacacagtcagagggacccaaaagcaggggggaagga c.-121
. . . . . . g.5416
aaaagagatgcacacttcccccagagaagcctccgagcgcggccgccattccgggcctca c.-61
. . . . . . g.5476
agcccataaagaaaaaataccggagaggttctggcaccatttcggggtgccaaagcagcc c.-1
. . . . . . g.5536
ATGGAAGAGCCTGCAGCTCCCTCAGAAGCCCACGAGGCAGCCGGGGCCCAGGCAGGTGCT c.60
M E E P A A P S E A H E A A G A Q A G A p.20
. . . . . . g.5596
GAGGCAGCAAGGGAGGGTGTGTCTGGGCCGGACCTTCCCGTCTGTGAGCCCTCCGGGGAA c.120
E A A R E G V S G P D L P V C E P S G E p.40
. . . . . . g.5656
TCTGCTGCTCCAGATTCAGCCCTGCCACATGCGGCAAGGGGCTGGGCCCCCTTCCCTGTA c.180
S A A P D S A L P H A A R G W A P F P V p.60
. . . . . . g.5716
GCTCCAGTCCCTGCCCACCTCCGCAGAGGAGGCCTGAGGCCTGCCCCAGCCTCAGGAGGA c.240
A P V P A H L R R G G L R P A P A S G G p.80
. . . . . . g.5776
GGAGCCTGGCCCAGTCCGTTGCCAAGCCGAAGCAGCGGCATTTGGACAAAGCAGATCATC c.300
G A W P S P L P S R S S G I W T K Q I I p.100
. . . . . . g.5836
TGCAGGTATTATATACATGGGCAGTGCAAGGAGGGGGAGAACTGTCGCTATTCGCACGAC c.360
C R Y Y I H G Q C K E G E N C R Y S H D p.120
. . . . . . g.5896
CTTTCTGGTCGGAAGATGGCCACTGAGGGTGGCGTTTCGCCGCCTGGGGCCTCTGCAGGT c.420
L S G R K M A T E G G V S P P G A S A G p.140
. . . . . . g.5956
GGAGGCCCTAGCACGGCTGCGCACATCGAGCCCCCGACTCAGGAAGTGGCGGAAGCCCCC c.480
G G P S T A A H I E P P T Q E V A E A P p.160
. . . . . . g.6016
CCGGCTGCATCCTCCCTTTCCTTGCCTGTGATTGGCTCGGCTGCTGAAAGGGGTTTCTTT c.540
P A A S S L S L P V I G S A A E R G F F p.180
. . . . . . g.6076
GAAGCCGAGAGAGACAATGCAGACCGTGGAGCTGCTGGAGGAGCAGGTGTAGAAAGCTGG c.600
E A E R D N A D R G A A G G A G V E S W p.200
. . . . . . g.6136
GCGGATGCCATTGAGTTTGTTCCAGGGCAGCCCTACCGGGGCCGCTGGGTTGCATCTGCC c.660
A D A I E F V P G Q P Y R G R W V A S A p.220
. . . . . . g.6196
CCCGAGGCTCCTCTACAGAGCTCAGAGACTGAGAGGAAGCAGATGGCTGTGGGCAGTGGG c.720
P E A P L Q S S E T E R K Q M A V G S G p.240
. . . . . . g.6256
TTGCGGTTTTGCTATTATGCTTCCAGGGGAGTTTGCTTTCGTGGGGAGAGCTGTATGTAC c.780
L R F C Y Y A S R G V C F R G E S C M Y p.260
. . . . . . g.6316
CTCCATGGAGACATATGCGACATGTGTGGGCTGCAGACCTTGCACCCCATGGATGCTGCC c.840
L H G D I C D M C G L Q T L H P M D A A p.280
. . . . . . g.6376
CAGAGGGAAGAACATATGAGGGCCTGCATTGAAGCACACGAGAAAGATATGGAACTCTCG c.900
Q R E E H M R A C I E A H E K D M E L S p.300
. . . . . . g.6436
TTTGCTGTGCAGCGTGGTATGGACAAGGTGTGTGGCATCTGCATGGAGGTTGTCTATGAG c.960
F A V Q R G M D K V C G I C M E V V Y E p.320
. . . . . . g.6496
AAGGCCAACCCCAATGACCGCCGCTTTGGCATTCTTTCCAATTGCAACCATTCCTTCTGT c.1020
K A N P N D R R F G I L S N C N H S F C p.340
. . . . . . g.6556
ATTAGGTGTATCCGCAGGTGGAGAAGTGCCAGACAGTTTGAGAACAGGATCGTCAAGTCT c.1080
I R C I R R W R S A R Q F E N R I V K S p.360
. . . . . . g.6616
TGCCCACAGTGCAGGGTCACCTCTGAATTGGTCATTCCCAGTGAGTTCTGGGTGGAGGAG c.1140
C P Q C R V T S E L V I P S E F W V E E p.380
. . . . . . g.6676
GAGGAAGAGAAGCAGAAACTTATTCAGCAATACAAGGAGGCAATGAGCAACAAGGCCTGC c.1200
E E E K Q K L I Q Q Y K E A M S N K A C p.400
. . . . . . g.6736
AGGTATTTTGCGGAAGGCAGGGGTAACTGCCCATTTGGAGACACATGCTTTTACAAGCAT c.1260
R Y F A E G R G N C P F G D T C F Y K H p.420
. . . . . . g.6796
GAATACCCTGAGGGCTGGGGAGATGAGCCTCCTGGGCCAGGTGGTGGGTCATTCAGCGCA c.1320
E Y P E G W G D E P P G P G G G S F S A p.440
. . . . . . g.6856
TACTGGCATCAACTTGTGGAGCCTGTGCGAATGGGAGAGGGCAACATGCTCTATAAAAGC c.1380
Y W H Q L V E P V R M G E G N M L Y K S p.460
. . . . . . g.6916
ATTAAGAAGGAGCTTGTCGTGCTTCGGCTGGCCAGTCTGTTGTTTAAGCGGTTTCTTTCA c.1440
I K K E L V V L R L A S L L F K R F L S p.480
. . . . . . g.6976
CTGAGAGATGAGTTACCCTTCTCTGAGGACCAGTGGGACTTGCTTCATTATGAGCTGGAA c.1500
L R D E L P F S E D Q W D L L H Y E L E p.500
. . g.7000
GAATATTTCAATTTGATTCTGTAG c.1524
E Y F N L I L X p.507
. . . . . . g.7060
catcgtgctgtggcatgtggtctagtctgctgaggttctgtcgtctgctattgcctgttt c.*60
. . . . . . g.7120
tccctgtgttgacactcttactgctttcaggggctgttgaggcagtgcttctgttttctt c.*120
. . . . . . g.7180
gtctattctgcatatctttccccctaggattatggtgattatctgtgttaaaaaataagt c.*180
. . . . . . g.7240
ccttaaagttactgttttggtgaaattaatattaatgtcagcttatggcttttttttgtc c.*240
. . . . . . g.7300
atctctgttgtcaacaggattaactcagttctagtgtagtgtttactgaatttccacact c.*300
. . . . . . g.7360
tattttgaagaccctcaagagtaaatgtggcagagtgaaaggagaagttttaattgaact c.*360
. . . . . . g.7420
agtagctttgtgctataatagccttaacaaatggacccttgcagggctttgcagctgctc c.*420
. . . . . . g.7480
atctgtttgtttacagtttgttctttccctccttccccttcaagtgcacttgttaaactg c.*480
. . . . . . g.7540
tgatgaacttgtgattttgtgttttacttgaccaaaaccaagtgtatatgtttacatgtt c.*540
. . . . . . g.7600
tttatcctgtttagcttgacatgaaataatttatatttggaaatatatatttaagaatta c.*600
. . . . . . g.7660
tatatataaaaatatatatgtataagagttatgtatttgaaaaaaatatataaaagaata c.*660
. . . . . g.7714
tacatcacaatataatatttatgtttatgtaataaagtaaatacagagctgaaa c.*714
(downstream sequence)
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