(used for variant description)
(last modified December 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_181690.2 in the AKT3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029764.1, covering AKT3 transcript NM_181690.2.
(upstream sequence)
. . . . . g.5354
gctgagtcatcactagagagtgggaagggcagcagcagcagagaatccaaac c.-61
. . . . . . g.5414
cctaaagctgatatcacaaagtaccatttctccaagttgggggctcagaggggagtcatc c.-1
. . . . | 02 . . g.152882
ATGAGCGATGTTACCATTGTGAAAGAAGGTTGGGTTCAGAAGAGGG | GAGAATATATAAAA c.60
M S D V T I V K E G W V Q K R G | E Y I K p.20
. . . . . . g.152942
AACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAG c.120
N W R P R Y F L L K T D G S F I G Y K E p.40
. . . . . | 03 . g.183709
AAACCTCAAGATGTGGATTTACCTTATCCCCTCAACAACTTTTCAGTGGCAA | AATGCCAG c.180
K P Q D V D L P Y P L N N F S V A K | C Q p.60
. . . . . . g.183769
TTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACT c.240
L M K T E R P K P N T F I I R C L Q W T p.80
. . . . | 04 . . g.202563
ACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAG | GGAAGAATGGACAGAA c.300
T V I E R T F H V D T P E E R | E E W T E p.100
. . . . . . g.202623
GCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAGAGGAGAGAATGAATTGTAGT c.360
A I Q A V A D R L Q R Q E E E R M N C S p.120
. . . . . . g.202683
CCAACTTCACAAATTGATAATATAGGAGAGGAAGAGATGGATGCCTCTACAACCCATCAT c.420
P T S Q I D N I G E E E M D A S T T H H p.140
| 05 . . . . . g.210893
AAAAGAAAG | ACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGG c.480
K R K | T M N D F D Y L K L L G K G T F G p.160
. . . . . . g.210953
AAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAG c.540
K V I L V R E K A S G K Y Y A M K I L K p.180
. . | 06 . . . . g.233462
AAAGAAGTCATTATTGCAAAG | GATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTA c.600
K E V I I A K | D E V A H T L T E S R V L p.200
. . | 07. . . . g.234878
AAGAACACTAGACATCCCTTTTTAACA | TCCTTGAAATATTCCTTCCAGACAAAAGACCGT c.660
K N T R H P F L T | S L K Y S F Q T K D R p.220
. . . | 08 . . . g.275560
TTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAG | CTGTTTTTCCATTTGTCGAGAGAG c.720
L C F V M E Y V N G G E | L F F H L S R E p.240
. . . . . . g.275620
CGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGAC c.780
R V F S E D R T R F Y G A E I V S A L D p.260
. . . | 09 . . g.284757
TATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAG | TTGGAGAATCTAATGCTGGAC c.840
Y L H S G K I V Y R D L K | L E N L M L D p.280
. . . . . . g.284817
AAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGATCACAGATGCA c.900
K D G H I K I T D F G L C K E G I T D A p.300
. . . . | 10 . g.295653
GCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAG | GTGTTAGAAGAT c.960
A T M K T F C G T P E Y L A P E | V L E D p.320
. . . . . . g.295713
AATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATG c.1020
N D Y G R A V D W W G L G V V M Y E M M p.340
. . . . . . g.295773
TGTGGGAGGTTACCTTTCTACAACCAGGACCATGAGAAACTTTTTGAATTAATATTAATG c.1080
C G R L P F Y N Q D H E K L F E L I L M p.360
. . . . . . g.295833
GAAGACATTAAATTTCCTCGAACACTCTCTTCAGATGCAAAATCATTGCTTTCAGGGCTC c.1140
E D I K F P R T L S S D A K S L L S G L p.380
. . | 11 . . . . g.303024
TTGATAAAGGATCCAAATAAACG | CCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATG c.1200
L I K D P N K R | L G G G P D D A K E I M p.400
. . . . . | 12 . g.336167
AGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAG | CTTGTACCT c.1260
R H S F F S G V N W Q D V Y D K K | L V P p.420
. . . . . . g.336227
CCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACA c.1320
P F K P Q V T S E T D T R Y F D E E F T p.440
. . . | 13 . . . g.348824
GCTCAGACTATTACAATAACACCACCTGAAAAAT | GTCAGCAATCAGATTGTGGCATGCTG c.1380
A Q T I T I T P P E K C | Q Q S D C G M L p.460
. g.348842
GGTAACTGGAAAAAATAA | c.1399
G N W K K X p.465
| 14 . . . . . . g.360188
taaaaa | tcggcttcctacagccagcagcacagtcacccatggaactgttggctttggatt c.*60
. . . . . . g.360248
aaatgtggaattgaacgactacccagaagtgttctggaaagaagcgagatgtgtggcctg c.*120
. . . . . . g.360308
cctcaccgtcctcacccatcaaaagcaccagcaggcacgttaactcgaattctcacaagg c.*180
. . . . g.360352
aaaaggccattaaagctcaaggtgcatttcaaactccaggctac c.*224
(downstream sequence)
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