(used for mutation description)
(last modified September 8, 2014)
This file was created to facilitate the description of sequence variants in the STK10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.10, covering STK10 transcript NM_005990.3.
(upstream sequence)
. . . . . . g.1060
tctcgcaggcagggctgggccgggcaggagctgcgaggccggcacaagggaggcggccct c.-241
. . . . . . g.1120
ggggacctgacagggcgggggcgggggcgggcacgccgccgcctgcgcggttccgggtgc c.-181
. . . . . . g.1180
tcccggcgcggcgctgcccagggcacacttgaccgaggtcgggctgcggggaaaggcggg c.-121
. . . . . . g.1240
tctggggagaaccccgagagacgcggcgtcctccaactcctcctccttctcctcgcggcc c.-61
. . . . . . g.1300
gccgaagccacagcccgagcccgagcccgagcccgagccggcgccaccgcgcccccggcc c.-1
. . . . . . g.1360
ATGGCTTTTGCCAATTTCCGCCGCATCCTGCGCCTGTCTACCTTCGAGAAGAGAAAGTCC c.60
M A F A N F R R I L R L S T F E K R K S p.20
. . . . . . g.1420
CGCGAATATGAGCACGTCCGCCGCGACCTGGACCCCAACGAGGTGTGGGAGATCGTGGGC c.120
R E Y E H V R R D L D P N E V W E I V G p.40
. . . | 02 . . . g.32578
GAGCTGGGCGACGGCGCCTTCGGCAAGGTTTACAAG | GCCAAGAATAAGGAGACGGGTGCT c.180
E L G D G A F G K V Y K | A K N K E T G A p.60
. . . . . . g.32638
TTGGCTGCGGCCAAAGTCATTGAAACCAAGAGTGAGGAGGAGCTGGAGGACTACATCGTG c.240
L A A A K V I E T K S E E E L E D Y I V p.80
. . . . . . g.32698
GAGATTGAGATCCTGGCCACCTGCGACCACCCCTACATTGTGAAGCTCCTGGGAGCCTAC c.300
E I E I L A T C D H P Y I V K L L G A Y p.100
. . | 03 . . . . g.61960
TATCACGACGGGAAGCTGTGG | ATCATGATTGAGTTCTGTCCAGGGGGAGCCGTGGACGCC c.360
Y H D G K L W | I M I E F C P G G A V D A p.120
. | 04 . . . . . g.71762
ATCATGCTGG | AGCTGGACAGAGGCCTCACGGAGCCCCAGATACAGGTGGTTTGCCGCCAG c.420
I M L E | L D R G L T E P Q I Q V V C R Q p.140
. . . . . . g.71822
ATGCTAGAAGCCCTCAACTTCCTGCACAGCAAGAGGATCATCCACCGAGATCTGAAAGCT c.480
M L E A L N F L H S K R I I H R D L K A p.160
. . . . | 05 . . g.81510
GGCAACGTGCTGATGACCCTCGAGGGAGACATCAGGCTGG | CTGACTTTGGTGTGTCTGCC c.540
G N V L M T L E G D I R L A | D F G V S A p.180
. . . . . | 06 . g.82535
AAGAATCTGAAGACTCTACAGAAACGAGATTCCTTCATCGGCACGCCTTACTG | GATGGCC c.600
K N L K T L Q K R D S F I G T P Y W | M A p.200
. . . . . . g.82595
CCCGAGGTGGTCATGTGTGAGACCATGAAAGACACGCCCTACGACTACAAAGCCGACATC c.660
P E V V M C E T M K D T P Y D Y K A D I p.220
. . . . . . g.82655
TGGTCCCTGGGCATCACGCTGATTGAGATGGCCCAGATCGAGCCGCCACACCACGAGCTC c.720
W S L G I T L I E M A Q I E P P H H E L p.240
. . . . . . g.82715
AACCCCATGCGGGTCCTGCTAAAGATCGCCAAGTCGGACCCTCCCACGCTGCTCACGCCC c.780
N P M R V L L K I A K S D P P T L L T P p.260
| 07 . . . . . g.83657
TCTAAGTG | GTCTGTAGAGTTCCGTGACTTCCTGAAGATAGCCCTGGATAAGAACCCAGAA c.840
S K W | S V E F R D F L K I A L D K N P E p.280
. . . | 08 . . . g.92812
ACCCGACCCAGTGCCGCGCAGCTGCTGGAG | CATCCCTTCGTCAGCAGCATCACCAGTAAC c.900
T R P S A A Q L L E | H P F V S S I T S N p.300
. . . . . . g.92872
AAGGCTCTGCGGGAGCTGGTGGCTGAGGCCAAGGCCGAGGTGATGGAAGAGATCGAAGAC c.960
K A L R E L V A E A K A E V M E E I E D p.320
. . . . | 09 . . g.95397
GGCCGGGATGAGGGGGAAGAGGAGGACGCCGTGGATGCCGCCTCC | ACCCTGGAGAACCAT c.1020
G R D E G E E E D A V D A A S | T L E N H p.340
. . . . . . g.95457
ACTCAGAACTCCTCTGAGGTGAGTCCGCCAAGCCTCAATGCTGACAAGCCTCTCGAGGAG c.1080
T Q N S S E V S P P S L N A D K P L E E p.360
. . . . . . g.95517
TCACCTTCCACCCCGCTGGCACCCAGCCAGTCTCAGGACAGTGTGAATGAGCCCTGCAGC c.1140
S P S T P L A P S Q S Q D S V N E P C S p.380
. . . . . . g.95577
CAGCCCTCTGGGGACAGATCCCTCCAAACCACCAGTCCCCCAGTCGTGGCCCCTGGAAAT c.1200
Q P S G D R S L Q T T S P P V V A P G N p.400
. . . . . . g.95637
GAGAACGGCCTGGCAGTGCCTGTGCCCCTGCGGAAGTCCCGACCCGTGTCAATGGATGCC c.1260
E N G L A V P V P L R K S R P V S M D A p.420
. . . . . . g.95697
AGAATTCAGGTAGCCCAGGAGAAGCAAGTTGCTGAGCAGGGTGGGGACCTCAGCCCAGCA c.1320
R I Q V A Q E K Q V A E Q G G D L S P A p.440
. . . . . . g.95757
GCCAACAGATCTCAAAAGGCCAGCCAGAGCCGGCCCAACAGCAGCGCCCTGGAGACCTTG c.1380
A N R S Q K A S Q S R P N S S A L E T L p.460
. . . . . . g.95817
GGTGGGGAGAAGCTGGCCAATGGCAGCCTGGAGCCACCTGCCCAGGCAGCTCCAGGGCCT c.1440
G G E K L A N G S L E P P A Q A A P G P p.480
. . . . . . g.95877
TCCAAGAGGGACTCGGACTGCAGCAGCCTCTGCACCTCTGAGAGCATGGACTATGGTACC c.1500
S K R D S D C S S L C T S E S M D Y G T p.500
. . . . . | 10 . g.98986
AATCTCTCCACTGACCTGTCGCTGAACAAAGAGATGGGCTCTCTGTCCATCAAG | GACCCG c.1560
N L S T D L S L N K E M G S L S I K | D P p.520
. . . . . . g.99046
AAACTGTACAAAAAAACCCTCAAGCGGACACGCAAATTTGTGGTGGATGGTGTGGAGGTG c.1620
K L Y K K T L K R T R K F V V D G V E V p.540
. . . . . . g.99106
AGCATCACCACCTCCAAGATCATCAGCGAAGATGAGAAGAAGGATGAGGAGATGAGATTT c.1680
S I T T S K I I S E D E K K D E E M R F p.560
| 11 . . . . . . g.106313
CTCAG | GCGCCAGGAACTCCGAGAGCTTCGGCTGCTCCAGAAAGAAGAGCATCGGAACCAG c.1740
L R | R Q E L R E L R L L Q K E E H R N Q p.580
. . . . . . g.106373
ACCCAGCTGAGTAACAAGCATGAGCTGCAGCTGGAGCAAATGCATAAACGTTTTGAACAG c.1800
T Q L S N K H E L Q L E Q M H K R F E Q p.600
| 12 . . . . . g.106888
GAAATCAAC | GCCAAGAAGAAGTTCTTTGACACGGAATTAGAGAACCTGGAGCGTCAGCAA c.1860
E I N | A K K K F F D T E L E N L E R Q Q p.620
. . . . . . g.106948
AAGCAGCAAGTGGAGAAGATGGAGCAAGACCATGCCGTGCGCCGCCGGGAGGAGGCCAGG c.1920
K Q Q V E K M E Q D H A V R R R E E A R p.640
. . . . . . g.107008
CGGATCCGCCTGGAGCAGGATCGGGACTACACCAGGTTCCAAGAGCAGCTCAAACTGATG c.1980
R I R L E Q D R D Y T R F Q E Q L K L M p.660
| 13 . . . . . g.124581
AAGAAAGAG | GTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATG c.2040
K K E | V K N E V E K L P R Q Q R K E S M p.680
. . . . | 14 . . g.128092
AAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTT | GACCGGGACTTTGTAGCC c.2100
K Q K M E E H T Q K K Q L L | D R D F V A p.700
. . . . . . g.128152
AAGCAGAAGGAGGACCTGGAGCTGGCCATGAAGAGGCTCACCACCGACAACAGGCGGGAG c.2160
K Q K E D L E L A M K R L T T D N R R E p.720
. . . . . | 15 . g.131877
ATCTGTGACAAGGAGCGCGAGTGCCTCATGAAGAAGCAGGAGCTCCTTCGAG | ACCGGGAA c.2220
I C D K E R E C L M K K Q E L L R D | R E p.740
. . . . . . g.131937
GCAGCCCTGTGGGAGATGGAAGAGCACCAGCTGCAGGAGAGGCACCAGCTGGTGAAGCAG c.2280
A A L W E M E E H Q L Q E R H Q L V K Q p.760
. . . . . | 16. g.133569
CAGCTCAAAGACCAGTACTTCCTCCAGCGGCACGAGCTGCTGCGCAAGCATGAGAAG | GAG c.2340
Q L K D Q Y F L Q R H E L L R K H E K | E p.780
. . . . . . g.133629
CGGGAGCAGATGCAGCGCTACAACCAGCGCATGATAGAGCAGCTGAAGGTGCGGCAGCAA c.2400
R E Q M Q R Y N Q R M I E Q L K V R Q Q p.800
. . . . . . g.133689
CAGGAAAAGGCGCGGCTGCCCAAGATCCAGAGGAGTGAGGGCAAGACGCGCATGGCCATG c.2460
Q E K A R L P K I Q R S E G K T R M A M p.820
. . . . . . g.133749
TACAAGAAGAGCCTCCACATCAACGGCGGGGGCAGCGCAGCTGAGCAGCGTGAGAAGATC c.2520
Y K K S L H I N G G G S A A E Q R E K I p.840
| 17 . . . . . . g.134702
AAGCAG | TTCTCCCAGCAGGAGGAGAAGAGGCAGAAGTCGGAGCGGCTGCAGCAACAGCAG c.2580
K Q | F S Q Q E E K R Q K S E R L Q Q Q Q p.860
. . . . . . g.134762
AAACACGAGAACCAGATGCGGGACATGCTGGCGCAGTGTGAGAGCAACATGAGCGAGCTG c.2640
K H E N Q M R D M L A Q C E S N M S E L p.880
. | 18 . . . . . g.136348
CAGCAGCTGCAG | AATGAAAAGTGCCACCTCCTGGTAGAGCACGAAACCCAGAAACTGAAG c.2700
Q Q L Q | N E K C H L L V E H E T Q K L K p.900
. . . . . . g.136408
GCCCTGGATGAGAGCCATAACCAGAACCTGAAGGAATGGCGGGACAAGCTTCGGCCGCGC c.2760
A L D E S H N Q N L K E W R D K L R P R p.920
| 19 . . . . . . g.144374
AAGAAG | GCTCTGGAAGAGGATCTGAACCAGAAGAAGCGGGAGCAGGAGATGTTCTTCAAG c.2820
K K | A L E E D L N Q K K R E Q E M F F K p.940
. . . . . . g.144434
CTGAGCGAGGAGGCGGAGTGCCCAAACCCCTCCACCCCAAGCAAGGCCGCCAAGTTCTTC c.2880
L S E E A E C P N P S T P S K A A K F F p.960
. . g.144461
CCCTACAGTTCTGCGGATGCTTCTTAA c.2907
P Y S S A D A S X p.968
. . . . . . g.144521
caaccgcccggggctgtggctggcagcttggtgggccccagggccttctccttcattctc c.*60
. . . . . . g.144581
tgtgaacatgtaactcaggaccccttttccctcttgcgtctgtgccagctcaaatccagc c.*120
. . . . . . g.144641
ccctcgccctgtgccaccccaactgtgcctgatagacctgccccagcgttcctgacttct c.*180
. . . . . . g.144701
tgctggcctgtggagggtgaggtgtaattatttgtcacctgaacctaatgtatattctcc c.*240
. . . . . . g.144761
ttgagccccagatcccttcaagctggaagggatggggctgttggtggggtcagggtccaa c.*300
. . . . . . g.144821
gaggaatgggtgttctgtggcctcgagtcctctcctgtttgcgaaaataccagttttgct c.*360
. . . . . . g.144881
ctctgtgggacaaagcactgctgatgaagtccccgtgggctcatccgggctggaattctt c.*420
. . . . . . g.144941
ggtttttcagccattccctgcagagtcactcaatcatcaagtccctcacagccatttctg c.*480
. . . . . . g.145001
ttcccagaggagccaggcctgcagctggctgctcaggagatggcctcattcctcctgttc c.*540
. . . . . . g.145061
tcccagtttgctttccacttaagacaaagccttgtctatgtggggggcggggaccgggga c.*600
. . . . . . g.145121
aagagggaggctgaaatgtttattctgcttctcccgtgtttcatgccatctcgcgtcccc c.*660
. . . . . . g.145181
cttcctgcacatgggtgtgaatgcacacacatacgcgtacacacaggacttggtctgctg c.*720
. . . . . . g.145241
gcctggcctcttctgcccaggtgggttggaacacgtttgctgcctgagcctgtgccactg c.*780
. . . . . . g.145301
agcatgttaggtggagcagttggtgtggcacgtgcggggtgttggcaccggaggcatgga c.*840
. . . . . . g.145361
aaagcacaggctgtactgccaggctgcgatgcgtgctggcccccgcacaggctcctgtgt c.*900
. . . . . . g.145421
gcagggactgattcctcagcacacgaggcttccacaacccagtctgctccatagcactct c.*960
. . . . . . g.145481
ggcccaccctgtctgcaggtgaaacaggagggctgtttgcctctgccccatccccccgac c.*1020
. . . . . . g.145541
tgtgttcaggagtcccaccttgcatttcagacctgggctggcagtctgttggacttctct c.*1080
. . . . . . g.145601
tcaggaagaaaaagcatcagggggaaatggaatgcccctgccccaggaacatggcagaag c.*1140
. . . . . . g.145661
cacaggttctgtacctcagatggactcctgctgggccttcggggtctcagttggcttccc c.*1200
. . . . . . g.145721
ccagattctgattctacagctgcagaatgtatataacgcaataaaagcaaatgtttgaac c.*1260
. . . . . . g.145781
cagtatgcgggtttacttacaaggaaaccttttttcaccctgatttctaattattttatt c.*1320
. . . . . . g.145841
gaaacaactataaaatgtatggtttctccaggaagatatctgctttttaaaacaacaaac c.*1380
. . . . . . g.145901
aagaacaacaacacaaaactggtaatgatttggagtaatcatgcgggcatattgagtctg c.*1440
. . . . . . g.145961
ggtagtgtttcgctggtggtagagtggttgagacttcctgggaggactttttccgccttc c.*1500
. . . . . . g.146021
actcctacagatttaagattctttatttttaggccgggcatggtgactcacctgaggtga c.*1560
. . . . . . g.146081
ggagttcgagactagcctggccaacatggcaaaaccctgtctctactaaaagtacaaaaa c.*1620
. . . . . . g.146141
ttagccaggcgtggtggtgcatgcctataatcccagctactcgggaggctgaggcaggag c.*1680
. . . . . . g.146201
aatcgcttgaacccaggaggcagaggttgcagtaagccaaggtcacaccactgcactcca c.*1740
. . . . . . g.146261
gcctaggtgacagggcgagactctgtctctcaaaaaaaaaaaaaaaaaaaattctttgag c.*1800
. . . . . . g.146321
acagggtctctaatatgttgcccaagctgatctcaaactcgtggctcaactgattctccc c.*1860
. . . . . . g.146381
gcttcaaccttgagtagctgggacgacagatacatgctactgcacccagctaggttaagg c.*1920
. . . . . . g.146441
ttctgtatactctgtctttctaaagcaattccctggaaattttctcaacattggttataa c.*1980
. . . . . . g.146501
ctgaatgcttgggaagggaggggcagcccttcaacaggaaaaggggactgcccaaatctt c.*2040
. . . . . . g.146561
aaatgcacagtcaagattctcttggagctagcaatggttctcaggttagtgagcatttag c.*2100
. . . . . . g.146621
cttgcctgctgcagaatttgacccagatgggggtgttttttaggtctctcacaaatgaga c.*2160
. . . . . . g.146681
caagcgaaacaattgtctccttttattctctttggtgcattggtgctggggaaacatgaa c.*2220
. . . . . . g.146741
ctagcggcagtgtaactgcagaacatagacccagttctaccaggccaggccagcgttggg c.*2280
. . . . . . g.146801
aaccaccagacagggctgctttgggctttgcttacagtatttccatgtgtagcctggcgt c.*2340
. . . . . . g.146861
gtgagaaagtattaggtgaaatgccagtttcatggttcaggtgaaagtctgtgatcattc c.*2400
. . . . . . g.146921
ccctcgtggctcgtccttcacatcacttttgcccttcaaggagttgccgcgtccccgctc c.*2460
. . . . . . g.146981
agtgccgcctgagccctcagagctcccctgtgcttttctggatggggactggcggggtca c.*2520
. . . . . . g.147041
cctagcctcaccgtggagccaccgtgcaatgcccatctctgagaggcccacgcggtattc c.*2580
. . . . . . g.147101
ctcgtgccctgtgttagtgctttctgtataagggacagacagaactgggtttttttcctc c.*2640
. . . . . . g.147161
tgtctggttttagagtaaatgtaactaacttttattttccctttatgaaagatagaaatt c.*2700
. . . . . . g.147221
atttttatgtagtttccagactttatacaaaatttttgtaaaatgttctctggaaagtta c.*2760
. . . . . g.147273
actacaagaatgtaaatatgcttctaataaaataacaaggttatttgccgtt c.*2812
(downstream sequence)
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