(used for variant description)
(last modified February 13, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004586.2 in the RPS6KA3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007488.1, covering RPS6KA3 transcript NM_004586.2.
(upstream sequence)
. . . . . . g.60
ATGCCGCTGGCGCAGCTGGCGGACCCGTGGCAGAAGATGGCTGTGGAGAGCCCGTCCGAC c.60
M P L A Q L A D P W Q K M A V E S P S D p.20
| 02 . . . . . g.31869
AGCGCTGAG | AATGGACAGCAAATTATGGATGAACCTATGGGAGAGGAGGAGATTAACCCA c.120
S A E | N G Q Q I M D E P M G E E E I N P p.40
| 03 . . . . . . g.57282
CAAACT | GAAGAAGTCAGTATCAAAGAAATTGCAATCACACATCATGTAAAGGAAGGACAT c.180
Q T | E E V S I K E I A I T H H V K E G H p.60
. . . . . . g.57342
GAAAAGGCAGATCCTTCCCAGTTTGAACTTTTAAAAGTATTAGGGCAGGGATCATTTGGA c.240
E K A D P S Q F E L L K V L G Q G S F G p.80
| 04 . . . . . . g.62586
AAG | GTTTTCTTAGTTAAAAAAATCTCAGGCTCTGATGCTAGGCAGCTTTATGCCATGAAG c.300
K | V F L V K K I S G S D A R Q L Y A M K p.100
. . | 05 . . . . g.71522
GTATTGAAGAAGGCCACACTGAAAG | TTCGAGACCGAGTTCGGACAAAAATGGAACGTGAT c.360
V L K K A T L K V | R D R V R T K M E R D p.120
. . . . | 06 . . g.72378
ATCTTGGTAGAGGTTAATCATCCTTTTATTGTCAAGTTGCATTATG | CTTTTCAAACTGAA c.420
I L V E V N H P F I V K L H Y A | F Q T E p.140
. . . . . . g.72438
GGGAAGTTGTATCTTATTTTGGATTTTCTCAGGGGAGGAGATTTGTTTACACGCTTATCC c.480
G K L Y L I L D F L R G G D L F T R L S p.160
| 07 . . . . . . g.73093
AAAGAG | GTGATGTTCACAGAAGAAGATGTCAAATTCTACTTGGCTGAACTTGCACTTGCT c.540
K E | V M F T E E D V K F Y L A E L A L A p.180
. . . . . | 08 . g.78105
TTAGACCATCTACATAGCCTGGGAATAATTTATAGAGACTTAAAACCAGAAAA | TATACTT c.600
L D H L H S L G I I Y R D L K P E N | I L p.200
. . . | 09 . . . g.78691
CTTGATGAAGAAGGTCACATCAAGTTAACAG | ATTTCGGCCTAAGTAAAGAGTCTATTGAC c.660
L D E E G H I K L T D | F G L S K E S I D p.220
. . . . . . g.78751
CATGAAAAGAAGGCATATTCTTTTTGTGGAACTGTGGAGTATATGGCTCCAGAAGTAGTT c.720
H E K K A Y S F C G T V E Y M A P E V V p.240
. . . . . | 10 . g.80272
AATCGTCGAGGTCATACTCAGAGTGCTGACTGGTGGTCTTTTGGTGTGTTAATG | TTTGAA c.780
N R R G H T Q S A D W W S F G V L M | F E p.260
. . . . . . g.80332
ATGCTTACTGGTACACTCCCTTTCCAAGGAAAAGATCGAAAAGAAACAATGACTATGATT c.840
M L T G T L P F Q G K D R K E T M T M I p.280
| 11 . . . . . . g.89603
CTTAA | AGCCAAACTTGGAATGCCACAGTTTTTGAGTCCTGAAGCGCAGAGTCTTTTACGA c.900
L K | A K L G M P Q F L S P E A Q S L L R p.300
. . . | 12 . . . g.90160
ATGCTTTTCAAGCGAAATCCTGCAAACAGATTAG | GTGCAGGACCAGATGGAGTTGAAGAA c.960
M L F K R N P A N R L G | A G P D G V E E p.320
. . . | 13 . . g.90301
ATTAAAAGACATTCATTTTTCTCAACGATAGACTGGAAT | AAACTGTATAGAAGAGAAATT c.1020
I K R H S F F S T I D W N | K L Y R R E I p.340
. . . . . . g.90361
CATCCGCCATTTAAACCTGCAACGGGCAGGCCTGAAGATACATTCTATTTTGATCCTGAG c.1080
H P P F K P A T G R P E D T F Y F D P E p.360
. . | 14 . . . . g.91382
TTTACTGCAAAAACTCCCAAAG | ATTCACCTGGCATTCCACCTAGTGCTAATGCACATCAG c.1140
F T A K T P K D | S P G I P P S A N A H Q p.380
. . . . . . g.91442
CTTTTTCGGGGGTTTAGTTTTGTTGCTATTACCTCAGATGATGAAAGCCAAGCTATGCAG c.1200
L F R G F S F V A I T S D D E S Q A M Q p.400
. . | 15. . . . g.93794
ACAGTTGGTGTACATTCAATTGTTCAG | CAGTTACACAGGAACAGTATTCAGTTTACTGAT c.1260
T V G V H S I V Q | Q L H R N S I Q F T D p.420
. . . . . . g.93854
GGATATGAAGTAAAAGAAGATATTGGAGTTGGCTCCTACTCTGTTTGCAAGAGATGTATA c.1320
G Y E V K E D I G V G S Y S V C K R C I p.440
. . . | 16 . . . g.97168
CATAAAGCTACAAACATGGAGTTTGCAGTGAAG | ATTATTGATAAAAGCAAGAGAGACCCA c.1380
H K A T N M E F A V K | I I D K S K R D P p.460
. . . . . . g.97228
ACAGAAGAAATTGAAATTCTTCTTCGTTATGGACAGCATCCAAACATTATCACTCTAAAG c.1440
T E E I E I L L R Y G Q H P N I I T L K p.480
| 17 . . . . . . g.98942
GAT | GTATATGATGATGGAAAGTATGTGTATGTAGTAACAGAACTTATGAAAGGAGGTGAA c.1500
D | V Y D D G K Y V Y V V T E L M K G G E p.500
. . . . . . g.99002
TTGCTGGATAAAATTCTTAGACAAAAATTTTTCTCTGAACGAGAGGCCAGTGCTGTCCTG c.1560
L L D K I L R Q K F F S E R E A S A V L p.520
. . . . | 18 . . g.101590
TTCACTATAACTAAAACCGTTGAATATCTTCACGCACAAGGG | GTGGTTCATAGAGACTTG c.1620
F T I T K T V E Y L H A Q G | V V H R D L p.540
. . . . . . g.101650
AAACCTAGCAACATTCTTTATGTGGATGAATCTGGTAATCCGGAATCTATTCGAATTTGT c.1680
K P S N I L Y V D E S G N P E S I R I C p.560
. . . . . . g.101710
GATTTTGGCTTTGCAAAACAGCTGAGAGCGGAAAATGGTCTTCTCATGACTCCTTGTTAC c.1740
D F G F A K Q L R A E N G L L M T P C Y p.580
. . | 19 . . . . g.103628
ACTGCAAATTTTGTTGCACCAGAG | GTTTTAAAAAGACAAGGCTATGATGCTGCTTGTGAT c.1800
T A N F V A P E | V L K R Q G Y D A A C D p.600
. . . . | 20 . . g.104890
ATATGGAGTCTTGGTGTCCTACTCTATACAATGCTTACCGG | TTACACTCCATTTGCAAAT c.1860
I W S L G V L L Y T M L T G | Y T P F A N p.620
. . . . . . g.104950
GGTCCTGATGATACACCAGAGGAAATATTGGCACGAATAGGTAGCGGAAAATTCTCACTC c.1920
G P D D T P E E I L A R I G S G K F S L p.640
. . . | 21 . . g.110404
AGTGGTGGTTACTGGAATTCTGTTTCAGACACAGCAAAG | GACCTGGTGTCAAAGATGCTT c.1980
S G G Y W N S V S D T A K | D L V S K M L p.660
. . . . . . g.110464
CATGTAGACCCTCATCAGAGACTGACTGCTGCTCTTGTGCTCAGACATCCTTGGATCGTC c.2040
H V D P H Q R L T A A L V L R H P W I V p.680
. . . . . . g.110524
CACTGGGACCAACTGCCACAATACCAACTAAACAGACAGGATGCACCACATCTAGTAAAG c.2100
H W D Q L P Q Y Q L N R Q D A P H L V K p.700
| 22 . . . . . . g.111172
| GGTGCCATGGCAGCTACATATTCTGCTTTGAACCGTAATCAGTCACCAGTTTTGGAACCA c.2160
| G A M A A T Y S A L N R N Q S P V L E P p.720
. . . . . . g.111232
GTAGGCCGCTCTACTCTTGCTCAGCGGAGAGGTATTAAAAAAATCACCTCAACAGCCCTG c.2220
V G R S T L A Q R R G I K K I T S T A L p.740
g.111235
TGA c.2223
X p.740
. . . . . . g.111295
agtgacctcagtgagatatttggtaccatggtgtaagctgatagcacaagttctggcgac c.*60
. . . . . . g.111355
aggtagcacgtatctgagagacacctgcaagcacacactgtcccagctggtacccataat c.*120
. . . . . . g.111415
gctgctgttcctgctgctgctcctgctttcctctcttctcgctttaaatgattgttagca c.*180
. . . . . . g.111475
agttagattttcctggagcttcggaagaaatgaaaatggaaacatgatgaagatatagtc c.*240
. . . . . . g.111535
actgaatcaatgagaaaaataatgaacatatgaataccacctaaaaatacactgaataaa c.*300
. . . . . . g.111595
gtacaccatatagcattatttttataggaaatatttcatgtcccttaaatattctttgtt c.*360
. . . . . . g.111655
agttatagggatggacagtttatgttaagcacttagcttaaacaatccgtttatattagc c.*420
. . . . . . g.111715
actgtatcccttgtgccatccaacattttgtatgtttttgtaaacagttcatatacagta c.*480
. . . . . . g.111775
catttctgtactgctttctttaatgtatacatgccttgtttaacttggaatctattatta c.*540
. . . . . . g.111835
ttaatcaattgactattaaatctggttaaatagttcacctggattaacagtattgttgga c.*600
. . . . . . g.111895
cagtcctaaaaatggccagattgtggaacagctgttgaatgtaatacttccaaaatgtac c.*660
. . . . . . g.111955
atatctttccccacgtctgtttcactggttcgttcatttgtttgtttcttaaagtcaggt c.*720
. . . . . . g.112015
gctctgtcagactaacctagagagctgttatggtagagaaagttatcatatgtgtgtggc c.*780
. . . . . . g.112075
atgaaatcaagaatacacctatgaagttagtccatatactttgcaactccttagagtact c.*840
. . . . . . g.112135
tttttccttaattaaggaagtagtccttgcacttctaatcttacatagcatccatactta c.*900
. . . . . . g.112195
gaatttggcatatcatctgggattttgccaatatacgtcaaagccctttaagagtcatgg c.*960
. . . . . . g.112255
taaggagatgggtgaaggaaaatttagcaacaggtaattgaagtcctattggatatttca c.*1020
. . . . . . g.112315
tgtttaaatagatattctatattaaacactaatttaaatgtaataaaggccaaaggcctc c.*1080
. . . . . . g.112375
tgtatgaaattggatttaaactttcttattttagggaataaaacattattgatcaaacag c.*1140
. . . . . . g.112435
tatctgttctaacctaaaattataggtagggcaggctaagtgaacagcattgagtatttt c.*1200
. . . . . . g.112495
ctgaatccctcatgataatttatagccacatactgcttcctttgacttcaggaatgatca c.*1260
. . . . . . g.112555
gttttcataatggccactgggcctgcttagattgcagtattcattatctgcatctaattt c.*1320
. . . . . . g.112615
ggtagtttccacaatcgtatttgatgaaagaaacttcagtccccattattacctgtgtct c.*1380
. . . . . . g.112675
ttgccaagctgcctagcatacatcagtatgtaatgtaaaagacatatgagcaagaaaaaa c.*1440
. . . . . . g.112735
gtgatttaacttacctcatcaagaatgtgcccctacaggccgggcgcagtggctcacgcc c.*1500
. . . . . . g.112795
tgtaatcccagcattttgggaggccgaggcaggtggatcacctgaggtcaggagtttgag c.*1560
. . . . . . g.112855
accagcctggccaacatggtgaaaccccgtctctactaaaaaatacaaaaattagctggg c.*1620
. . . . . . g.112915
catggtggcgtgcacctgtaatcctagctactcaggaggctgaggcaggagaatcgcttg c.*1680
. . . . . . g.112975
aacctgggaggtggtggttgcagtgagccaagatcacaccattgcactccagcctgggtg c.*1740
. . . . . . g.113035
acagagtgagactctgtctcaagaaggaaaaaaaaaaaaaagaatgtactcatacagatt c.*1800
. . . . . . g.113095
tttgttagtcatcatgtaataagccatttatatcagaaaccttttttcctgccacagaag c.*1860
. . . . . . g.113155
ctttaaattttcccctaagagtacaaagccaagagagtgtggtttatctaaatgtcctga c.*1920
. . . . . . g.113215
aatccacttgtcattccttaatttctcctctatgcaattaaagagaaaggggaaatctat c.*1980
. . . . . . g.113275
aacatttcttttgcccaagtgacacaaaaatgattactgcatagaaatcaaatgtaagtt c.*2040
. . . . . . g.113335
tagcttctaaatgaaataatatataggagggatatcagaatgtctagatagagaaagtat c.*2100
. . . . . . g.113395
tttcaaattcttgaatatatggatgctattaaaagctgctttccattgcctggaaagaga c.*2160
. . . . . . g.113455
gcttttttccctcctctattcagtgtttcaaactttggtcatctcaaattattgtcactt c.*2220
. . . . . . g.113515
ttaaaatgttaatgtcattctgagcagaaatagatatattttcagatttttttacactga c.*2280
. . . . . . g.113575
tgctactccgtaattgcttaggagtattgtccatcatagtattttagaactagaagtaaa c.*2340
. . . . . . g.113635
cacataaatccttataaattacccaatccaactttctcatattgcatgtagagaacctga c.*2400
. . . . . . g.113695
gacacatatcaaagtctagaatccttaacttctccccattttgtttttttccgcctcatc c.*2460
. . . . . . g.113755
acaccatgctgcctttccctcatatgatcaccaaccagtagctgagttcaaaaactacat c.*2520
. . . . . . g.113815
atttcttgggcagtcctctactggtatgtgatgccaacttttatttctttcgaagataat c.*2580
. . . . . . g.113875
tgccttctttgcctagccaagcagccaattttattggagaaaagcaagttatatgttcac c.*2640
. . . . . . g.113935
aaaatggaaggctttctacctaaatttatttcatctgtggtcctcttattctcttccatt c.*2700
. . . . . . g.113995
gcttttgacatacagtggaaaaacttggccaacgatgtgctctaaatatagtgcttgtgt c.*2760
. . . . . . g.114055
tgggttaacttttccattaatttctcaacatcaattattcaggcccctacagttgtggta c.*2820
. . . . . . g.114115
ttgaggcccctaaaggcttctgcctttcaccaattagtgctgccagttactgaggcttct c.*2880
. . . . . . g.114175
cccaaaaggtatcagtccagtcttaaagatatttcattgtgaaagaagaaactaaactat c.*2940
. . . . . . g.114235
caggcctcttttacaaaatgagagattgaatttaagcttgtcaagcacgtactggaaggt c.*3000
. . . . . . g.114295
atgaattacactaccatgtgttttgtatcttccctttcaagtgatgatgttaaatgaagg c.*3060
. . . . . . g.114355
taagtttttcatccttttttaatttttgttttttataaatcatttcagctttttctggtt c.*3120
. . . . . . g.114415
tatagaggtgtcttatttctaatgcaacagacccccaactttaacagatttgatatggat c.*3180
. . . . . . g.114475
gcatttattcacaagcaaccccaaaagtccaaaaatgtaataattttgacaaggcccaaa c.*3240
. . . . . . g.114535
gttgagatgctatgaagcttgtgtgtgtgaaaagtcagttatgattgtctggagagaagc c.*3300
. . . . . . g.114595
tgtggtgtgtatgctgtagagtttccacatttcacatgcagtgtactccaaaaagcgggt c.*3360
. . . . . . g.114655
ttgggtcaaccatttcccatctctttttaagaagtgactgctgttggggccaggggacat c.*3420
. . . . . . g.114715
catgggaggtggggctgtccagttagctgtgccctgcaccttcagcccaggaaagatttg c.*3480
. . . . . . g.114775
aacagagcaaaggcttcaagagagggcagaatgtattcggcagaaaagggactcaggtaa c.*3540
. . . . . . g.114835
gcccagcctgggatgagagcagaaaagcattcaagatttgcaggccttgctatggatgcg c.*3600
. . . . . . g.114895
cttaatcaccatggaggccagcaatacccatctcagcatggctttgatattctctacttc c.*3660
. . . . . . g.114955
ctggcctttaaaaatgacctataatttttcagtttgctttactatattttataaagaaaa c.*3720
. . . . . . g.115015
ttctatcttatggttgattgagcattgagacttatgaaggcattaggatagatagctcag c.*3780
. . . . . . g.115075
gaatgtaaaggttcagaaaaggtctgttttctcagattaacaaatatgatggattccatg c.*3840
. . . . . . g.115135
gctgaccttggtgcttaaaccaggaggtttcaatctagtcctagagttgtgtccctctga c.*3900
. . . . . . g.115195
aaggcccaatgccatgtaactaactttaaactggatatatactttgagccttacttaatt c.*3960
. . . . . . g.115255
cacagataagttgacttaactcagtatttttatttcaattaatgaaaacagtcctctttt c.*4020
. . . . . . g.115315
caaccccaggttgcttacattttgctggtctccccaagtgaccattggtggagaccaatt c.*4080
. . . . . . g.115375
aatgaaggaatgaaattcactttattgggactgtggtattcaacagagccacacttaacc c.*4140
. . . . . . g.115435
actttttccaatgaagaatctccagaatgataatgcccaaatatggatggccaagaagaa c.*4200
. . . . . . g.115495
tttgtatctacggtgtgctttatgtgtttttgacactgctgtattctgtgtgatcaagtg c.*4260
. . . . . . g.115555
atttgcagctggttccaatgtgactgagtgttctcaaagatttctagtaactaagtcaac c.*4320
. . . . . . g.115615
ttaattttcttaagcctggtattactatcagcctcacatttaccactttgattctagttt c.*4380
. . . . . . g.115675
tttaactgttcataacagggcataccgagggttgggatgagagcctacttcctacctctt c.*4440
. . . . . . g.115735
aaggcactttcctcattattttgccatataatcttgaactgcatgataagctgtttaaat c.*4500
. . . . . . g.115795
gtccatgacttctcccagagcaactagcaaagtatatgacattttgaatagagattagtg c.*4560
. . . . . . g.115855
gaaaggaaaatgtagagatttaagttcagaggtacaaacctcaataaaacctccttagag c.*4620
. . . . . . g.115915
cacataccatgagtagagtatatgtaaacgtatatgagaagagagtcgctataatagtcc c.*4680
. . . . . . g.115975
tctctaagtagattagttcattgtctaatggaagtgaacatctttactcctgttatcacc c.*4740
. . . . . . g.116035
atagtactgaatgaactgtataatgagtttttcaaacaagtatttaaaatagaactttca c.*4800
. . . . . . g.116095
cgtacaaagcaagggcataaagattttggtttgtgtttctgtaagtgtagtttaccatct c.*4860
. . . . . . g.116155
aaagctttggtttttaattttaaaaaaagcttcaaggtattgccattccttagcatcctt c.*4920
. . . . . . g.116215
attgattatgggtgatgagtttttaactcttaaaatcatatacgtgtattagtttatctt c.*4980
. . . . . . g.116275
aactgttgccctaagcaaaagggaaggtatacacctaagggatgtacttattttgcattt c.*5040
. . . . . . g.116335
ttggtcatgggtgggaatggggtgggtgcctacttaaatagtttttaaaaaagaaaaaaa c.*5100
. . . . . . g.116395
tcacaaatatttttctactgttatatatgatcttcctttatactagtttctctctagtaa c.*5160
. . . . . . g.116455
ggcatgccagaagcccaagataccatatcatgaattcttacatattgtaccttttgttgg c.*5220
. . . . . . g.116515
tggttaaatcgcatcagatgcttggcattgctgccataattataaaatgcttgtaaagga c.*5280
. . . . . . g.116575
tcaaatatcactaaatactttaaattgttttacttaagagtctaatctgggaagttttca c.*5340
. . . . . . g.116635
aatcatactattaatgtgtaatctaagctcttcagatgtatccatgaataatcctggaac c.*5400
. . . . . . g.116695
aatattgcttgtattcctgtcatagaacaggttttgtaatctttaaaagaaatgaaaatt c.*5460
. . g.116722
tatataataaagtttcaaatcaatgca c.*5487
(downstream sequence)
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