(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the PIK3R1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering PIK3R1 transcript NM_181523.2.
(upstream sequence)
. . . . g.1040
gtcgccagcagctggagcggagttggaggaagcagcggca c.-541
. . . . . . g.1100
gcggcgagggcggcaggctagctgtcggagacggcaagcacggatcgggcacggccggcg c.-481
. . . . . . g.1160
ggtcgcagccgggctggaggccggtcggaaccgagcgggcaggaggccaccgctgcagcg c.-421
. . . . | 02 . . g.11560
cgggccccgcagaggaaggaagccggcgggcggg | gtgaagctcgtgtgtggagtgccacg c.-361
. . . . . . g.11620
gtacaatcagacgacagatggacagtgtgacaaaagtgtcagaaaggattgggcctcgct c.-301
. . . . . . g.11680
gtgagagtcagcctggattcaaagtgttgacaagttgctgaaaaggaagccagtgagagg c.-241
. . . . . . g.11740
actgtggcacgcagaggaagtggagccctgtcttcggtcacaccattgatggaggacaga c.-181
. . . . . . g.11800
tggacagccgtatggccagtcacctctcctcttaaacctttggagagtggtcctttgtcc c.-121
. . . . . . g.11860
tctgctggacacataataggaattctaacacattctctgaattcacttttcataaaaacg c.-61
. . . . . . g.11920
taaaatcagactgctctgtacaaccaggctcaactgttgcatggtagcagatttgcaaac c.-1
. . . . . . g.11980
ATGAGTGCTGAGGGGTACCAGTACAGAGCGCTGTATGATTATAAAAAGGAAAGAGAAGAA c.60
M S A E G Y Q Y R A L Y D Y K K E R E E p.20
. . . . . . g.12040
GATATTGACTTGCACTTGGGTGACATATTGACTGTGAATAAAGGGTCCTTAGTAGCTCTT c.120
D I D L H L G D I L T V N K G S L V A L p.40
. . . . . . g.12100
GGATTCAGTGATGGACAGGAAGCCAGGCCTGAAGAAATTGGCTGGTTAAATGGCTATAAT c.180
G F S D G Q E A R P E E I G W L N G Y N p.60
. . . . . . g.12160
GAAACCACAGGGGAAAGGGGGGACTTTCCGGGAACTTACGTAGAATATATTGGAAGGAAA c.240
E T T G E R G D F P G T Y V E Y I G R K p.80
. . . . . . g.12220
AAAATCTCGCCTCCCACACCAAAGCCCCGGCCACCTCGGCCTCTTCCTGTTGCACCAGGT c.300
K I S P P T P K P R P P R P L P V A P G p.100
. . . | 03 . . . g.58660
TCTTCGAAAACTGAAGCAGATGTTGAACAACAAG | CTTTGACTCTCCCGGATCTTGCAGAG c.360
S S K T E A D V E Q Q A | L T L P D L A E p.120
. . . . . . g.58720
CAGTTTGCCCCTCCTGACATTGCCCCGCCTCTTCTTATCAAGCTCGTGGAAGCCATTGAA c.420
Q F A P P D I A P P L L I K L V E A I E p.140
| 04. . . . . . g.59236
AAGAAAG | GTCTGGAATGTTCAACTCTATACAGAACACAGAGCTCCAGCAACCTGGCAGAA c.480
K K G | L E C S T L Y R T Q S S S N L A E p.160
. . | 05 . . . . g.64884
TTACGACAGCTTCTTGATTGTG | ATACACCCTCCGTGGACTTGGAAATGATCGATGTGCAC c.540
L R Q L L D C D | T P S V D L E M I D V H p.180
. . . . . . g.64944
GTTTTGGCTGACGCTTTCAAACGCTATCTCCTGGACTTACCAAATCCTGTCATTCCAGCA c.600
V L A D A F K R Y L L D L P N P V I P A p.200
. . . | 06 . . . g.65798
GCCGTTTACAGTGAAATGATTTCTTTAGCTCCAG | AAGTACAAAGCTCCGAAGAATATATT c.660
A V Y S E M I S L A P E | V Q S S E E Y I p.220
. . . . . . g.65858
CAGCTATTGAAGAAGCTTATTAGGTCGCCTAGCATACCTCATCAGTATTGGCTTACGCTT c.720
Q L L K K L I R S P S I P H Q Y W L T L p.240
. . . . . . g.65918
CAGTATTTGTTAAAACATTTCTTCAAGCTCTCTCAAACCTCCAGCAAAAATCTGTTGAAT c.780
Q Y L L K H F F K L S Q T S S K N L L N p.260
. . . . . | 07 . g.66175
GCAAGAGTACTCTCTGAAATTTTCAGCCCTATGCTTTTCAGATTCTCAGCAGCCAG | CTCT c.840
A R V L S E I F S P M L F R F S A A S | S p.280
. . . . . . g.66235
GATAATACTGAAAACCTCATAAAAGTTATAGAAATTTTAATCTCAACTGAATGGAATGAA c.900
D N T E N L I K V I E I L I S T E W N E p.300
. | 08 . . . . . g.77547
CGACAGCCTGCACCAG | CACTGCCTCCTAAACCACCAAAACCTACTACTGTAGCCAACAAC c.960
R Q P A P A | L P P K P P K P T T V A N N p.320
. . . . . | 09 g.78346
GGTATGAATAACAATATGTCCTTACAAGATGCTGAATGGTACTGGGGAGATATCTCGAG | G c.1020
G M N N N M S L Q D A E W Y W G D I S R | p.340
. . . . . . g.78406
GAAGAAGTGAATGAAAAACTTCGAGATACAGCAGACGGGACCTTTTTGGTACGAGATGCG c.1080
E E V N E K L R D T A D G T F L V R D A p.360
. . . | 10 . . g.78569
TCTACTAAAATGCATGGTGATTATACTCTTACACTAAG | GAAAGGGGGAAATAACAAATTA c.1140
S T K M H G D Y T L T L R | K G G N N K L p.380
. . . . . . g.78629
ATCAAAATATTTCATCGAGATGGGAAATATGGCTTCTCTGACCCATTAACCTTCAGTTCT c.1200
I K I F H R D G K Y G F S D P L T F S S p.400
. . . . . . g.78689
GTGGTTGAATTAATAAACCACTACCGGAATGAATCTCTAGCTCAGTATAATCCCAAATTG c.1260
V V E L I N H Y R N E S L A Q Y N P K L p.420
. . . | 11 . . g.78974
GATGTGAAATTACTTTATCCAGTATCCAAATACCAACAG | GATCAAGTTGTCAAAGAAGAT c.1320
D V K L L Y P V S K Y Q Q | D Q V V K E D p.440
. . . . . . g.79034
AATATTGAAGCTGTAGGGAAAAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGT c.1380
N I E A V G K K L H E Y N T Q F Q E K S p.460
. . . . | 12 . . g.79795
CGAGAATATGATAGATTATATGAAGAATATACCCGCACATCCCAG | GAAATCCAAATGAAA c.1440
R E Y D R L Y E E Y T R T S Q | E I Q M K p.480
. . . . . . g.79855
AGGACAGCTATTGAAGCATTTAATGAAACCATAAAAATATTTGAAGAACAGTGCCAGACC c.1500
R T A I E A F N E T I K I F E E Q C Q T p.500
. . . . . . g.79915
CAAGAGCGGTACAGCAAAGAATACATAGAAAAGTTTAAACGTGAAGGCAATGAGAAAGAA c.1560
Q E R Y S K E Y I E K F K R E G N E K E p.520
| 13 . . . . . g.80444
ATACAAAG | GATTATGCATAATTATGATAAGTTGAAGTCTCGAATCAGTGAAATTATTGAC c.1620
I Q R | I M H N Y D K L K S R I S E I I D p.540
. . . . . . g.80504
AGTAGAAGAAGATTGGAAGAAGACTTGAAGAAGCAGGCAGCTGAGTATCGAGAAATTGAC c.1680
S R R R L E E D L K K Q A A E Y R E I D p.560
. . . . . . g.80564
AAACGTATGAACAGCATTAAACCAGACCTTATCCAGCTGAGAAAGACGAGAGACCAATAC c.1740
K R M N S I K P D L I Q L R K T R D Q Y p.580
| 14 . . . . . . g.80719
TTGAT | GTGGTTGACTCAAAAAGGTGTTCGGCAAAAGAAGTTGAACGAGTGGTTGGGCAAT c.1800
L M | W L T Q K G V R Q K K L N E W L G N p.600
. | 15 . . . . . g.81461
GAAAACACTGAAGA | CCAATATTCACTGGTGGAAGATGATGAAGATTTGCCCCATCATGAT c.1860
E N T E D | Q Y S L V E D D E D L P H H D p.620
. . . . . . g.81521
GAGAAGACATGGAATGTTGGAAGCAGCAACCGAAACAAAGCTGAAAACCTGTTGCGAGGG c.1920
E K T W N V G S S N R N K A E N L L R G p.640
. . . . . . g.81581
AAGCGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTATGCCTGCTCT c.1980
K R D G T F L V R E S S K Q G C Y A C S p.660
| 16 . . . . . . g.82711
GTAGT | GGTGGACGGCGAAGTAAAGCATTGTGTCATAAACAAAACAGCAACTGGCTATGGC c.2040
V V | V D G E V K H C V I N K T A T G Y G p.680
. . . . . . g.82771
TTTGCCGAGCCCTATAACTTGTACAGCTCTCTGAAAGAACTGGTGCTACATTACCAACAC c.2100
F A E P Y N L Y S S L K E L V L H Y Q H p.700
. . . . . . g.82831
ACCTCCCTTGTGCAGCACAACGACTCCCTCAATGTCACACTAGCCTACCCAGTATATGCA c.2160
T S L V Q H N D S L N V T L A Y P V Y A p.720
. g.82846
CAGCAGAGGCGATGA c.2175
Q Q R R X p.724
. . . . . . g.82906
agcgcttactctttgatccttctcctgaagttcagccaccctgaggcctctggaaagcaa c.*60
. . . . . . g.82966
agggctcctctccagtctgatctgtgaattgagctgcagaaacgaagccatctttctttg c.*120
. . . . . . g.83026
gatgggactagagctttctttcacaaaaaagaagtaggggaagacatgcagcctaaggct c.*180
. . . . . . g.83086
gtatgatgaccacacgttcctaagctggagtgcttatcccttctttttctttttttcttt c.*240
. . . . . . g.83146
ggtttaatttaaagccacaaccacatacaacacaaagagaaaaagaaatgcaaaaatctc c.*300
. . . . . . g.83206
tgcgtgcagggacaaagaggcctttaaccatggtgcttgttaatgctttctgaagcttta c.*360
. . . . . . g.83266
ccagctgaaagttgggactctggagagcggaggagagagaggcagaagaaccctggcctg c.*420
. . . . . . g.83326
agaaggtttggtccagcctggtttagcctggatgttgctgtgcacggtggacccagacac c.*480
. . . . . . g.83386
atcgcactgtggattatttcattttgtaacaaatgaacgatatgtagcagaaaggcacgt c.*540
. . . . . . g.83446
ccactcacaagggacgctttgggagaatgtcagttcatgtatgttcagaagaaattctgt c.*600
. . . . . . g.83506
catagaaagtgccagaaagtgtttaacttgtcaaaaaacaaaaacccagcaacagaaaaa c.*660
. . . . . . g.83566
tggagtttggaaaacaggacttaaaatgacattcagtatataaaatatgtacataatatt c.*720
. . . . . . g.83626
ggatgactaactatcaaatagatggatttgtatcaataccaaatagcttctgttttgttt c.*780
. . . . . . g.83686
tgctgaaggctaaattcacagcgctatgcaattcttaattttcattaagttgttatttca c.*840
. . . . . . g.83746
gttttaaatgtaccttcagaataagcttccccaccccagtttttgttgcttgaaaatatt c.*900
. . . . . . g.83806
gttgtcccggatttttgttaatattcatttttgttatccttttttaaaagtaaatgtaca c.*960
. . . . . . g.83866
ggatgccagtaaaaaaaaaaaatggcttcagaattaaaactatgaaatattttacagttt c.*1020
. . . . . . g.83926
ttcttgtacagagtacttggctgttagcccaaggttaaaaagttcataacagattttttt c.*1080
. . . . . . g.83986
tggactgttttgttgggcagtgcctgataagcttcaaagctgctttattcaataaaaaaa c.*1140
. . . . . . g.84046
agaaatgaaaaagatatatgaatatgacaaagtattgctgagtccaacaatgttgtttta c.*1200
. . . . . . g.84106
agactcttaaaatacggtacctggcaatgtttatttcataaagaattgtgaacttcttga c.*1260
. . . . . . g.84166
atctagggagggggaatgtagtgaagggatgtatcaagtggggtggtgggagggggaggc c.*1320
. . . . . . g.84226
aaggttatatgcactttctcatgatttacagagaagtgaataactgcaaagtgaagttgc c.*1380
. . . . . . g.84286
ttcttctacttcagtcttctctcactttgatttgctagttgttatcaattaatgacaatt c.*1440
. . . . . . g.84346
acaaacctactgtatctctaatacagtgtgactggtcaggtatttcagttcttaggaagg c.*1500
. . . . . . g.84406
aagtgccaagtttgtttttgggttcctggaacagcgctcacctttgtttagaacactggt c.*1560
. . . . . . g.84466
ttaaagggataatcatctctgtcacattagactatccatcatgaccagcaaatactcatt c.*1620
. . . . . . g.84526
ttaggaaaaaaaaaagcatgatctgaaaaatacttttggtggtatgttggttaccctcct c.*1680
. . . . . . g.84586
agctttccatttggtttagaacataaagcaaatagacacagtcatactgtcactgctctg c.*1740
. . . . . . g.84646
gactgtgtggagctcgctaaagtcatggtcattgcaggaatccaagtggcagtccttctc c.*1800
. . . . . . g.84706
attcattctaatcattgtatgtgcttcactacgggggggagaaggaaacgttagcatcat c.*1860
. . . . . . g.84766
gtttcccatttagggcaggagtgagaggtctctcttcctgatttagatatgcaaaagctg c.*1920
. . . . . . g.84826
gtatgttcagtaggaactgtacatgtgttgggaggcataaagactaattagcaaccataa c.*1980
. . . . . . g.84886
tatggtcactaccctaatagactaaatgaaatcttgcaatttcaaattactctttctcca c.*2040
. . . . . . g.84946
tattagatttacccacagctatatttctgtttaagtactagggtgagggttttctgttac c.*2100
. . . . . . g.85006
tttgttttttaatgttgttccttttgaaagaatcagtcttgcagctgagtgaaaaatctg c.*2160
. . . . . . g.85066
tggaatgtattatttgtcctctttacatgaaactactcatacttaagcaaaagtcagtct c.*2220
. . . . . . g.85126
tatagcaagactgttagccctcaaacttgactctactgatctgaccatttccctctcatc c.*2280
. . . . . . g.85186
gccagacaactgacgatttccctggttttagtctgcgtctctgctttaaagttattgtga c.*2340
. . . . . . g.85246
tatccttctagatcatacacaagtctaacagttaattagttaacagtttttaaactaggt c.*2400
. . . . . . g.85306
ttgtgggtatttttttggtagcacatgtatgctattacatacaaatttttatttctaaaa c.*2460
. . . . . . g.85366
tataagatctgagattgaatattttcattaaaagctacagttttgtgaatctttgtgctt c.*2520
. . . . . . g.85426
caacattctttgcaagatgatacggtatttaggcatttgccttatttttgcatctcacaa c.*2580
. . . . . . g.85486
acataagtgcaatagatcttttcattgaacagcaaagtaggattcatcattccatatgac c.*2640
. . . . . . g.85546
ttgagttacaccagacctgttctgcccaatgcctttttgattacagtgtagcttgcccac c.*2700
. . . . . . g.85606
cgcatttgtcgttttagatactttgctagccggccactttggatttcatcagacagtcct c.*2760
. . . . . . g.85666
aacaatattgtctgaacggctgaatatgaatagatacagcagaggcactcctgatatatg c.*2820
. . . . . . g.85726
atttttatccatgcgtcagtttttcccacccagtgtagcatcctaaagataaagccagaa c.*2880
. . . . . . g.85786
gctaagctgcagtgaggctgtgattgggcgtagaagtgggagcattgggacctcacatta c.*2940
. . . . . . g.85846
cacacacgagagatcataaccatgtgaaaaggcaaaaagcatgtgtttgcaacatctgat c.*3000
. . . . . . g.85906
aacttcatggcctttgataaatgtatatatgtatatgtgcatggactgtgtttccagtac c.*3060
. . . . . . g.85966
acctttcagccaaaacagatccacagtagttgttgagttcaagtacataaagtacataac c.*3120
. . . . . . g.86026
aagcgaacgtctagtacaattcttacttatgtgtatgggatttttccctttgaggttgct c.*3180
. . . . . . g.86086
ttgttttgtcttacaaaggtgaaaattgtttgtaagtgaagtgagaagttcatatttctt c.*3240
. . . . . . g.86146
tggcttttttgtgtttttaaaagttactccttttagggagctggtctgatgacttgctta c.*3300
. . . . . . g.86206
gcttggaaatccttgttttcagtgtgtcgagtcaaaatgtgtttatgtgagctgtcactg c.*3360
. . . . . . g.86266
tggggaaccaattgctttgtcatatagctggttatgaactagtaacatgtttgggaagtc c.*3420
. . . . . . g.86326
ctactgatgttcctttggaagaaaaaatctgctggttttaacaactgtgcttttgctatg c.*3480
. . . . . . g.86386
tatggtatccaagttagttgaaacgcagacactgagatctgtttgagtttagggtcattt c.*3540
. . . . . . g.86446
ttagaaaggggcagtttaaagcacaatgtctcacatgggacaaagttccaaaatgccaaa c.*3600
. . . . . . g.86506
ttcttattttttaaaaagctagttctataaaatactggtattatgggtggggaggaaata c.*3660
. . . . . . g.86566
gaattgagtcaattggaaagactatccaacttaacatgaaacttgtcaccatgagatagc c.*3720
. . . . . . g.86626
attagctgcccaggatgctgctatatatatatatatatatatatatgtgtgtgtgtgtgt c.*3780
. . . . . . g.86686
gtgtgtgtgtgtatatatatatatatatatatatatatatatatatatatatgtgtgtgt c.*3840
. . . . . . g.86746
atatatatatatatgtgtatatatatatgtatatacatatatgtatatatatgcacatat c.*3900
. . . . . . g.86806
atatatgtatttaaaaaaatcaaaacaaaaaaaaactcatttatacctgtgtatttttta c.*3960
. . . . . . g.86866
aagctacaatctgttcaatgtttttaaaaatctgtttatatgacattgttaaaataaagt c.*4020
. . . . . . g.86926
tggtcttttgacgagagggaggatgtcacggtcagttgtaactttgccttcacaaggcaa c.*4080
. . . . . . g.86986
ctggggtggggggtgggggtagtgtgcctccttgacatttcgttcaagttatagattcaa c.*4140
. . . . . . g.87046
tggagctatgtcttgttttaagttgctttaatgcattgtattagatcttcaaacagaata c.*4200
. . g.87066
aaggttgttttgaaactgaa c.*4220
(downstream sequence)
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