(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the STK4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering STK4 transcript NM_006282.2.
(upstream sequence)
. . . g.1030
gcggaagtgtgggagggtctgcggggcggg c.-61
. . . . . . g.1090
ctcaggaggtccgcgggaggatggagcagtgagcgggtctgggcggctgctggcagcgcc c.-1
. . . | 02 . . . g.6624
ATGGAGACGGTACAGCTGAGGAACCCGCCGCGCCG | GCAGCTGAAAAAGTTGGATGAAGAT c.60
M E T V Q L R N P P R R | Q L K K L D E D p.20
. . . . . | 03 . g.12968
AGTTTAACCAAACAACCAGAAGAAGTATTTGATGTCTTAGAGAAACTTGGAGAAGG | GTCC c.120
S L T K Q P E E V F D V L E K L G E G | S p.40
. . . . . . g.13028
TATGGCAGCGTATACAAAGCTATTCATAAAGAGACCGGCCAGATTGTTGCTATTAAGCAA c.180
Y G S V Y K A I H K E T G Q I V A I K Q p.60
. . . . . . g.13088
GTTCCTGTGGAATCAGACCTCCAGGAGATAATCAAAGAAATCTCTATAATGCAGCAATGT c.240
V P V E S D L Q E I I K E I S I M Q Q C p.80
| 04 . . . . . . g.16405
GACAG | CCCTCATGTAGTCAAATATTATGGCAGTTATTTTAAGAACACAGACTTATGGATC c.300
D S | P H V V K Y Y G S Y F K N T D L W I p.100
. . . . . . g.16465
GTTATGGAGTACTGTGGGGCTGGTTCTGTATCTGATATCATTCGATTACGAAATAAAACG c.360
V M E Y C G A G S V S D I I R L R N K T p.120
| 05 . . . . . . g.21713
| TTAACAGAAGATGAAATAGCTACAATATTACAATCAACTCTTAAGGGACTTGAATACCTT c.420
| L T E D E I A T I L Q S T L K G L E Y L p.140
. . . . . . g.21773
CATTTTATGAGAAAAATACACCGAGATATCAAGGCAGGAAATATTTTGCTAAATACAGAA c.480
H F M R K I H R D I K A G N I L L N T E p.160
. . . . | 06 . . g.29626
GGACATGCAAAACTTGCAGATTTTGGGGTAGCAGGTCAACTTACA | GATACCATGGCCAAG c.540
G H A K L A D F G V A G Q L T | D T M A K p.180
. . . . . . g.29686
CGGAATACAGTGATAGGAACACCATTTTGGATGGCTCCAGAAGTGATTCAGGAAATTGGA c.600
R N T V I G T P F W M A P E V I Q E I G p.200
. . . . . . g.29746
TACAACTGTGTAGCAGACATCTGGTCCCTGGGAATAACTGCCATAGAAATGGCTGAAGGA c.660
Y N C V A D I W S L G I T A I E M A E G p.220
. . . | 07 . . . g.31717
AAGCCCCCTTATGCTGATATCCATCCAATGAGG | GCAATCTTCATGATTCCTACAAATCCT c.720
K P P Y A D I H P M R | A I F M I P T N P p.240
. . . . . . g.31777
CCTCCCACATTCCGAAAACCAGAGCTATGGTCAGATAACTTTACAGATTTTGTGAAACAG c.780
P P T F R K P E L W S D N F T D F V K Q p.260
. . . . . | 08 . g.34922
TGTCTTGTAAAGAGCCCTGAGCAGAGGGCCACAGCCACTCAGCTCCTGCAG | CACCCATTT c.840
C L V K S P E Q R A T A T Q L L Q | H P F p.280
. . . . . . g.34982
GTCAGGAGTGCCAAAGGAGTGTCAATACTGCGAGACTTAATTAATGAAGCCATGGATGTG c.900
V R S A K G V S I L R D L I N E A M D V p.300
. . . . . . g.35042
AAACTGAAACGCCAGGAATCCCAGCAGCGGGAAGTGGACCAGGACGATGAAGAAAACTCA c.960
K L K R Q E S Q Q R E V D Q D D E E N S p.320
| 09 . . . . . . g.35748
| GAAGAGGATGAAATGGATTCTGGCACGATGGTTCGAGCAGTGGGTGATGAGATGGGCACT c.1020
| E E D E M D S G T M V R A V G D E M G T p.340
. . . . . . g.35808
GTCCGAGTAGCCAGCACCATGACTGATGGAGCCAATACTATGATTGAGCACGATGACACG c.1080
V R V A S T M T D G A N T M I E H D D T p.360
. . . . . . g.35868
TTGCCATCACAACTGGGCACCATGGTGATCAATGCAGAGGATGAGGAAGAGGAAGGAACT c.1140
L P S Q L G T M V I N A E D E E E E G T p.380
| 10. . . . . . g.59547
ATGAAAA | GAAGGGATGAGACCATGCAGCCTGCGAAACCATCCTTTCTTGAATATTTTGAA c.1200
M K R | R D E T M Q P A K P S F L E Y F E p.400
. . . . . . g.59607
CAAAAAGAAAAGGAAAACCAGATCAACAGCTTTGGCAAGAGTGTACCTGGTCCACTGAAA c.1260
Q K E K E N Q I N S F G K S V P G P L K p.420
. . . . | 11 . . g.109554
AATTCTTCAGATTGGAAAATACCACAGGATGGAGACTACGAGTTT | CTTAAGAGTTGGACA c.1320
N S S D W K I P Q D G D Y E F | L K S W T p.440
. . . . . . g.109614
GTGGAGGACCTTCAGAAGAGGCTCTTGGCCCTGGACCCCATGATGGAGCAGGAGATTGAA c.1380
V E D L Q K R L L A L D P M M E Q E I E p.460
. . . . . . g.109674
GAGATCCGGCAGAAGTACCAGTCCAAGCGGCAGCCCATCCTGGATGCCATAGAGGCTAAG c.1440
E I R Q K Y Q S K R Q P I L D A I E A K p.480
. . g.109698
AAGAGACGGCAACAAAACTTCTGA c.1464
K R R Q Q N F X p.487
. . . . . . g.109758
gcaaggccaggctgtgagggccccagctccacccaggctttgggtgaattctggatggct c.*60
. . . . . . g.109818
tgcctcatgtttgttagccagcacttctgctctgtcgtctctccacagcacctttgtgaa c.*120
. . . . . . g.109878
ctcaggaatgtgcgccagtgggaagggctctcttgacagtcagcgtgccatcttgatgtg c.*180
. . . . . . g.109938
tgtatgtacattggtcaggtatattatctcaaaggatttatattggcgcttttaactcag c.*240
. . . . . . g.109998
agttttaaaccccaggaacagagactcctagttgagtgatagctgggaaagttttacatt c.*300
. . . . . . g.110058
gtctgtttttcttctcccaatagctttcaattgttctttctggaagacttttaaaaaaat c.*360
. . . . . . g.110118
ataaatatgcatatatatatataaattataaatagattccccacgcagtgtggtggcatc c.*420
. . . . . . g.110178
tctgtacaggtacagttttaaacggtttgcctcttttctgtaagattatggtactgtgga c.*480
. . . . . . g.110238
acatgagggcagaggacaccgggaggctgttagggggtcactgaatcccaggagccaacc c.*540
. . . . . . g.110298
tccccctttgcagggctgcatttaaaaattaggtttgggacagttcttgtaccgtggttt c.*600
. . . . . . g.110358
cagccttgtgtggtcatcactggcttctggagctattggtgatgtccaagggaaagcttt c.*660
. . . . . . g.110418
gagagtttatgtttactctttgagtcccaggagaagcctggcaccctctttgcaaattgg c.*720
. . . . . . g.110478
cctttgctctttcaatgcctttcatccatctccactctctcaactgcctaaagtcacagc c.*780
. . . . . . g.110538
acagatactgcccagtgccttaagaggagacatgatctctaccagggactctcagcaaac c.*840
. . . . . . g.110598
acgggactgtgttcagtccacaaaggaaaagcgtttttgaagctctcattgttcatgtaa c.*900
. . . . . . g.110658
aaatcatacacgtggcatgttgctccacattccttacacacaggggtagaggggattgct c.*960
. . . . . . g.110718
tttgtgacccacgttcaaatatgtgactgttttcttttctcttttactgctaagcagcct c.*1020
. . . . . . g.110778
ggaaaggataaatgaatattagactaagatttgttttccaggaggctcaatctgaacaca c.*1080
. . . . . . g.110838
cagaatgtcagagctggaagggactatagagatcatctgatctgatcctcttgtacggat c.*1140
. . . . . . g.110898
gatcgcaaaactgaggtgtagagaggggaatggccaaaatcacaaagcaagttagcgtta c.*1200
. . . . . . g.110958
agagctgagactagaattcagggtcctcactcccaggccaccgaaccatgcagccccttc c.*1260
. . . . . . g.111018
tttgggggaagagacctgtgtcagtcttggttaattgttccagggaaccttgctaacaga c.*1320
. . . . . . g.111078
aacttgctcttgccttggctcttcagtagatgacctggctgtaaagagattccctggacg c.*1380
. . . . . . g.111138
agccagatcattcagtttcagcgagtccttgagctccacaacatctaccagatatagcag c.*1440
. . . . . . g.111198
acaagcacccatggaggcaggtttcgggcctgaagcagatcagagggctttgcaaaagac c.*1500
. . . . . . g.111258
agcatagagccatcttcctgcaactttacctctttccctcagatggggagccatgactgg c.*1560
. . . . . . g.111318
gttgcacctcaggatactgtaatttgactccataattgcttttgctcctgaaacctggga c.*1620
. . . . . . g.111378
atcaatggaaaggcagggaatgtgcctcttctgtggccagattctgttatttgcaattaa c.*1680
. . . . . . g.111438
agcaagtttttaaaaaatgcaagaggcagttgttagtcttcagggcttggcaactgaaat c.*1740
. . . . . . g.111498
agctatgtggcggatacggaaaacagaggacaatttgaggatcttgctggaataataaat c.*1800
. . . . . . g.111558
gacagctaccatttgttgagcacctattatatatcaggcactgagctgggtaggctctaa c.*1860
. . . . . . g.111618
acttcacaataaccctgtgacttaactactttatctccattttgtagttgaagaaataag c.*1920
. . . . . . g.111678
ttcagagagaaagattccttcccaaggtcatgcagctagtaaatgatagaatcaggattc c.*1980
. . . . . . g.111738
atagcatcactatagggggtcaatatttacacaaaaaaggaaagtcacaagcctgtttaa c.*2040
. . . . . . g.111798
aatgaagtgaccaccttttcttgcatagactaaataactcgaactggcatttttaggttg c.*2100
. . . . . . g.111858
gaaagacagctgaattagtagttaagtctgatagccaagtaagttttaaaaaccaaagca c.*2160
. . . . . . g.111918
tccaggatgcacacccctgcaccatttgctgtgcgaattaatagttctgtctctctctct c.*2220
. . . . . . g.111978
ctttcttttttctttttattctttgagatggattttcgctcttgtcgcccaggctggagt c.*2280
. . . . . . g.112038
acaatggcacgatcttggctcactgcaacctccgcctcccgggttcaagcgattcttctg c.*2340
. . . . . . g.112098
ctgggattacagcatatgccaccatgcccagattatttttttgtatttgtagtagagacg c.*2400
. . . . . . g.112158
gggtttcaccatgtcagtcaggctggtcttgaactcctgacctcaggtgatccacccgcc c.*2460
. . . . . . g.112218
tcagcctcccacactgctgggattacaggcatgagccaccgctcctggcctctctttctt c.*2520
. . . . . . g.112278
ttttaaacaaagaactttgcacttggccagagaggaggagaaagcccattttctcccttc c.*2580
. . . . . . g.112338
ctaagctagatccaaataaaagaaagttcagttttcccccataactattcttgggtcatg c.*2640
. . . . . . g.112398
aactttgatctggagtttgttttgtttcaggaatgtgtgcacccagcttgctgatccaac c.*2700
. . . . . . g.112458
aaagtctattgcttaccagtctagcttgatgaagccttttggccagaagtcaatttgttt c.*2760
. . . . . . g.112518
tggatcagagaaatttcctgacaaggtatatttgttttctagtgacagaaaggcaaagga c.*2820
. . . . . . g.112578
acaagtcctagttgttgttgttgttgttgaatactaaatttaagatatgtcagcttgctt c.*2880
. . . . . . g.112638
tcaatgagccttgggcttctgttattgcttgagcatttggaactcgagcttccagagaaa c.*2940
. . . . . . g.112698
tttgaggtcctcgcttgttctctgccttcaagaaacaatgacctgattctgtctttaaaa c.*3000
. . . . . . g.112758
aaaaaaatctcagaattctttttttgtttgtgtttttttttttttttgagacagagtctc c.*3060
. . . . . . g.112818
actctgttgcccaggctggagtgcagtggcgccatctcggctcactgcaacctccgcctc c.*3120
. . . . . . g.112878
ccaggttcaagcaattctcctgcctcagcctcccaggtagctgccactacaggtgctgca c.*3180
. . . . . . g.112938
ccaccacgcccggctaatttttgtatttttagtagagacagggtttcaccatattagcca c.*3240
. . . . . . g.112998
ggtgggtcttgaactcctgaccttgtgatccacccgcctcggcctcccaaagtgctggga c.*3300
. . . . . . g.113058
ttacaggcgtgagccaccttgcctggccaaaaatctcagaattctttaagactgttttaa c.*3360
. . . . . . g.113118
ttgctccatcagtaattttgaagcactttcctttttttttttttttcccctttttgtccc c.*3420
. . . . . . g.113178
tttccccaagccaccaattggatggatgaatgtttgacggggaagaggaagggtaggagg c.*3480
. . . . . . g.113238
atgcatggatgagtggatgagtggatcgatggatgtattgataaatagatagaaccagtc c.*3540
. . . . . . g.113298
atctgaagcaacttaagaattgtagccttgactccttgagactgtagatttcgatccagg c.*3600
. . . . . . g.113358
aaacatttatttagcacctgccagatgccagaaatttataccatttaaaactcagtaagt c.*3660
. . . . . . g.113418
cttttaaatatcaggaaggagagaagcgacatcatgatacatcctatgggtattaaaaag c.*3720
. . . . . . g.113478
ccaatagaatattatgaataattttatgctaataaatttaacaacttcaacatcataaac c.*3780
. . . . . . g.113538
aaattccttgaaaaataaaaagtaccaaaattcattcaagaagaaatagataccagcctg c.*3840
. . . . . . g.113598
agcaacatggcaaaatcccatctctacaaaacatcaaaaaaaaaaaaaattagtcgggca c.*3900
. . . . . . g.113658
tggtggtgcacacctgtaatcccagcttgtcaggaggctgaagtgggaggatcacctgag c.*3960
. . . . . . g.113718
cccagggaggtcaaggatgcagtgagccatggtctcaccactgcactctagcctgggtga c.*4020
. . . . . . g.113778
cagaatgagaccccgtctcaaaaaaaaagaagaagtagataatctgaatagccctatatc c.*4080
. . . . . . g.113838
tatagaaacttaatagtgctgggagatataggtattattatcctcattttacagatgtga c.*4140
. . . . . . g.113898
aaattgaggctcagagaagtaaagtctattgctcaaggtcatgtggctagaatatggcag c.*4200
. . . . . . g.113958
agccatgattcagatccaggtcttctgattcttattccagtgtcctttctagcataccat c.*4260
. . . . . . g.114018
gttgcctctaaagattgcagctccttatttactagaaaattgttcctgcccaatctacat c.*4320
. . . . . . g.114078
ctccacctcaccccatcttttcttaagcactatgtttgtgtttttatcagtattatattc c.*4380
. . . . . . g.114138
attgtctttggaatacatgttcttgtttgtgtttggaaaaaaaatctcttttaccagctt c.*4440
. . . . . . g.114198
gcactcggaccaacttggaaaaaaaaaagcttaaatgtttttgctatgtacagtttaaaa c.*4500
. . . . . . g.114258
atgtgaagtttgtagctttaactttttgtaagaaaatctaataacactggcttaagtgct c.*4560
. . . . . . g.114318
gacttgaaatgctattttgtaaggtttggatgtaagtaatcaattgaggtcagcagtttg c.*4620
. . . . . . g.114378
tatgagacatagcttcctccattgcccccactccttttttcttttttaagtttgagatgc c.*4680
. . . . . . g.114438
ttcctgtgtttttatgttagaattgttgttctccttcttttcttcttcctatacctcatc c.*4740
. . . g.114475
acgtttgttttaaataaactgtcctttggaccacaaa c.*4777
(downstream sequence)
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