(used for variant description)
(last modified July 3, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_170784.2 in the MKKS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009109.1, covering MKKS transcript NM_170784.2.
(upstream sequence)
. . . . . . g.5039
agagctgcgcgtgctccgtgccctcgcgcgacgcgaaggttgtcgggatccgcggcagca c.-721
. . . . . . g.5099
gcggctgcttgagatctgtttctggggcctctggcggtggcggcctggggcggcgcgacg c.-661
. . | 02 . . . . g.18508
gctggtgcgcag | gtacactgatgctgaagtactatgagccttcggaacttgtggagagac c.-601
. . . . . . g.18568
tacaaagttttggttgttatggtccctttagttgggctcatacatttggggtggtacaga c.-541
. . . . . . g.18628
atcaaaagcagccctgttttccaaatacctaaaaacgacgacattcctgagcaagatagt c.-481
. . . . . . g.18688
ctgggactttcaaatcttcagaagagccaaatccaggggaagtagcaggcttgcaatctt c.-421
. | 03 . . . . . g.25344
cag | gtaaagaagcagctttgaatctgagcttcatatcgaaagaagagatgaaaaatacca c.-361
. . . . . . g.25404
gttggattagaaagaactggcttcttgtagctgggatatctttcataggtgtccatcttg c.-301
. . . . . . g.25464
gaacatactttttgcagaggtctgcaaagcagtctgtaaaatttcagtctcaaagcaaac c.-241
. . . . . . g.25524
aaaagagtattgaagagtgaagtaaaataaatatttggaattactaatttgtcattaaat c.-181
. . . . . . g.25584
cattctatgctgattagcttcataaacattgaactttttgattttatagccacaatgctg c.-121
. . . . . . g.25644
catattcatactttaattcctaaagaataatttttaatgttaaaacgtgataatgcaata c.-61
. . . . . . g.25704
aatagaaaaatgtggtttacaaaataaaaacggtcttcactagttaccacctgaagtaag c.-1
. . . . . . g.25764
ATGTCTCGTTTGGAAGCTAAGAAGCCATCATTGTGTAAGAGTGAACCACTGACAACTGAG c.60
M S R L E A K K P S L C K S E P L T T E p.20
. . . . . . g.25824
AGAGTCAGGACCACACTTTCTGTCTTGAAAAGAATTGTAACATCATGCTATGGCCCCTCA c.120
R V R T T L S V L K R I V T S C Y G P S p.40
. . . . . . g.25884
GGTAGGCTGAAGCAGCTGCACAATGGCTTTGGAGGTTACGTGTGTACAACCTCACAGTCC c.180
G R L K Q L H N G F G G Y V C T T S Q S p.60
. . . . . . g.25944
TCAGCTCTGCTCAGTCACCTTTTGGTCACACATCCCATTTTAAAGATCCTGACAGCCTCC c.240
S A L L S H L L V T H P I L K I L T A S p.80
. . . . . . g.26004
ATACAGAATCATGTGTCAAGCTTCAGTGATTGTGGCTTATTCACAGCTATTCTTTGCTGC c.300
I Q N H V S S F S D C G L F T A I L C C p.100
. . . . . . g.26064
AACCTGATTGAAAATGTTCAGAGATTAGGCTTGACACCCACCACTGTCATTAGATTAAAT c.360
N L I E N V Q R L G L T P T T V I R L N p.120
. . . . . . g.26124
AAACATCTTTTGAGTCTTTGCATCAGTTATCTCAAGTCTGAGACCTGTGGTTGTCGAATC c.420
K H L L S L C I S Y L K S E T C G C R I p.140
. . . . . . g.26184
CCAGTGGACTTTAGTAGTACTCAGATCCTCCTTTGTTTGGTGCGTAGTATATTAACAAGT c.480
P V D F S S T Q I L L C L V R S I L T S p.160
. . . . . . g.26244
AAACCTGCCTGTATGCTCACCAGAAAGGAAACAGAGCATGTCAGTGCTTTGATCCTGAGA c.540
K P A C M L T R K E T E H V S A L I L R p.180
. . . . . . g.26304
GCCTTTTTGCTTACAATTCCAGAAAATGCTGAAGGCCACATCATTTTAGGAAAGAGTTTA c.600
A F L L T I P E N A E G H I I L G K S L p.200
. . . . . . g.26364
ATTGTACCTTTAAAAGGTCAAAGAGTTATAGATTCCACTGTATTACCTGGGATACTCATT c.660
I V P L K G Q R V I D S T V L P G I L I p.220
. . . . . . g.26424
GAAATGTCAGAAGTTCAATTAATGAGGCTATTACCTATCAAAAAATCAACTGCCCTCAAG c.720
E M S E V Q L M R L L P I K K S T A L K p.240
. . . . . . g.26484
GTGGCACTCTTTTGTACAACTTTATCCGGAGACACTTCTGACACTGGAGAAGGAACTGTG c.780
V A L F C T T L S G D T S D T G E G T V p.260
. . . . . . g.26544
GTGGTCAGTTATGGGGTTTCTCTTGAAAATGCAGTCTTGGACCAGCTGCTTAACCTAGGA c.840
V V S Y G V S L E N A V L D Q L L N L G p.280
. . . . . . g.26604
AGGCAGCTAATCAGTGACCACGTAGATCTTGTCCTGTGCCAAAAAGTTATACATCCATCT c.900
R Q L I S D H V D L V L C Q K V I H P S p.300
. . . . . . g.26664
TTGAAGCAGTTTCTCAATATGCATCGTATTATTGCCATAGACAGAATTGGAGTGACTCTG c.960
L K Q F L N M H R I I A I D R I G V T L p.320
. . | 04 . . . . g.30450
ATGGAACCCCTGACTAAAATGACAG | GAACACAGCCTATTGGATCCCTAGGCTCAATATGT c.1020
M E P L T K M T G | T Q P I G S L G S I C p.340
. . . . . . g.30510
CCTAATAGTTATGGAAGTGTGAAAGATGTGTGCACTGCAAAATTTGGCTCCAAACATTTT c.1080
P N S Y G S V K D V C T A K F G S K H F p.360
. . . . . . g.30570
TTTCATCTTATTCCTAATGAAGCAACAATCTGCAGCTTGCTTCTCTGCAACAGAAATGAC c.1140
F H L I P N E A T I C S L L L C N R N D p.380
. . | 05 . . . . g.31531
ACTGCCTGGGATGAGCTGAAG | CTCACGTGTCAGACGGCACTGCATGTCCTGCAGTTAACA c.1200
T A W D E L K | L T C Q T A L H V L Q L T p.400
. . . . . . g.31591
CTCAAGGAACCATGGGCTTTGTTGGGAGGTGGCTGTACTGAAACTCATTTGGCTGCATAT c.1260
L K E P W A L L G G G C T E T H L A A Y p.420
. | 06 . . . . . g.33579
ATCAGACACAAG | ACTCACAACGACCCAGAAAGCATTCTCAAAGATGATGAATGTACTCAA c.1320
I R H K | T H N D P E S I L K D D E C T Q p.440
. . . . . . g.33639
ACAGAACTTCAATTAATTGCTGAAGCATTTTGCAGTGCCCTAGAATCTGTTGTTGGCTCT c.1380
T E L Q L I A E A F C S A L E S V V G S p.460
. . . . . . g.33699
TTAGAACATGATGGAGGTGAAATTCTCACTGACATGAAGTATGGACACCTTTGGTCAGTT c.1440
L E H D G G E I L T D M K Y G H L W S V p.480
. . . . . . g.33759
CAGGCAGATTCTCCCTGTGTTGCTAACTGGCCAGATTTGCTTTCACAGTGTGGCTGTGGA c.1500
Q A D S P C V A N W P D L L S Q C G C G p.500
. . . . . . g.33819
TTATACAATAGCCAGGAAGAACTCAACTGGTCTTTCTTAAGAAGCACACGTCGTCCATTT c.1560
L Y N S Q E E L N W S F L R S T R R P F p.520
. . . . . . g.33879
GTGCCACAAAGCTGCCTTCCACATGAAGCTGTGGGCTCAGCCAGCAACCTGACCTTGGAC c.1620
V P Q S C L P H E A V G S A S N L T L D p.540
. . . . . . g.33939
TGTTTGACTGCAAAGCTTAGTGGCCTACAGGTGGCTGTAGAGACAGCCAATTTGATTTTG c.1680
C L T A K L S G L Q V A V E T A N L I L p.560
. . . g.33972
GATCTTTCATATGTTATTGAAGATAAAAACTAA c.1713
D L S Y V I E D K N X p.570
. . . . . . g.34032
gagaatagcatgttcgtattacaagagaaacaaataaactagtctgttggcaattgagaa c.*60
. . . . . . g.34092
aaattgtgagtgtatttgttttctcccaaagccctgttctacatatttggacaaatgact c.*120
. . . . . . g.34152
cataaaattatagatacacttatttaggaaaaaaggtgattcgtgaatggaaatgccatg c.*180
. . . . . . g.34212
aaacaataaaaatatgaagcattatttatttaaaaatattatagttatcttagggattct c.*240
. . . . . . g.34272
atactggctgctgtacattgttctaaatttttgttatgttggcatcattttgagagcaaa c.*300
. . . . . . g.34332
caaataaaaaagactcctaatccatgctctagtttggatatacatattttagatattttc c.*360
. . . . . . g.34392
cagttagcagtaattacatatgcttaaagtataaaactagatctcaaagtgtcacaaaac c.*420
. . . . g.34439
attcagtatatattgctcaatcaaaagaagtattcaaactgcacatt c.*467
(downstream sequence)
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