(used for variant description)
(last modified November 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006245.3 in the PPP2R5D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_050636.1, covering PPP2R5D transcript NM_006245.3.
(upstream sequence)
. . . . . g.5059
ggcgcctggttgtcaggcagttttgtaggagttcgggccaattggaggcgcaggcaccg c.-121
. . . . . . g.5119
ctcgacccgggcgcagcgcgcaggcggtggcgaagagacgccgagcgggccgagtgcggc c.-61
. . . . . . g.5179
cgagcaaagccggagccggagcggggccgcaggagacgggccgggtccggacgggccgag c.-1
. . | 02. . . . g.10145
ATGCCCTATAAACTGAAAAAGGAGAAG | GAGCCCCCCAAGGTTGCCAAATGCACAGCCAAG c.60
M P Y K L K K E K | E P P K V A K C T A K p.20
. . . . | 03 . . g.26979
CCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAG | GCCCAGCCGCAGCCC c.120
P S S S G K D G G G E N T E E | A Q P Q P p.40
. . . . . . g.27039
CAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGC c.180
Q P Q P Q P Q A Q S Q P P S S N K R P S p.60
. . . . . . g.27099
AATAGCACGCCGCCCCCCACGCAGCTCAGCAAAATCAAGTACTCAGGGGGGCCCCAGATT c.240
N S T P P P T Q L S K I K Y S G G P Q I p.80
. . . . . . g.27159
GTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTG c.300
V K K E R R Q S S S R F N L S K N R E L p.100
. . | 04 . . . . g.27450
CAGAAGCTTCCTGCCCTGAAAG | ATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAG c.360
Q K L P A L K D | S P T Q E R E E L F I Q p.120
. . . . . . g.27510
AAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAA c.420
K L R Q C C V L F D F V S D P L S D L K p.140
. . . . . . g.27570
TTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGT c.480
F K E V K R A G L N E M V E Y I T H S R p.160
. . . . | 05 . . g.27715
GATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATG | TTTTCAGTGAACCTCTTC c.540
D V V T E A I Y P E A V T M | F S V N L F p.180
. . . . . . g.27775
CGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAG c.600
R T L P P S S N P T G A E F D P E E D E p.200
. . . | 06 . . . g.27942
CCCACCCTGGAAGCTGCTTGGCCACATCTCCAG | CTCGTGTATGAGTTCTTCTTACGTTTC c.660
P T L E A A W P H L Q | L V Y E F F L R F p.220
. . . . . . g.28002
CTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTA c.720
L E S P D F Q P N I A K K Y I D Q K F V p.240
| 07 . . . . . . g.28490
CTTGCT | CTCCTAGACCTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACC c.780
L A | L L D L F D S E D P R E R D F L K T p.260
. . . . . . g.28550
ATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATC c.840
I L H R I Y G K F L G L R A Y I R R Q I p.280
. | 08. . . . . g.28745
AACCACATCTTCTACAG | GTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTC c.900
N H I F Y R | F I Y E T E H H N G I A E L p.300
. | 09. . . . . g.28911
CTGGAGATCCTGGGCAG | CATCATCAATGGCTTTGCCCTGCCCCTTAAAGAAGAGCACAAG c.960
L E I L G S | I I N G F A L P L K E E H K p.320
. . . . . . g.28971
ATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCAC c.1020
M F L I R V L L P L H K V K S L S V Y H p.340
| 10 . . . . . . g.29248
CCTCAG | CTGGCATACTGTGTGGTACAATTCCTGGAGAAGGAGAGCAGTCTGACTGAGCCG c.1080
P Q | L A Y C V V Q F L E K E S S L T E P p.360
| 11 . . . . . . g.29618
| GTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTC c.1140
| V I V G L L K F W P K T H S P K E V M F p.380
. . . . . . g.29678
TTGAATGAGCTGGAGGAGATTCTGGACGTCATTGAACCTTCTGAGTTCAGCAAAGTGATG c.1200
L N E L E E I L D V I E P S E F S K V M p.400
. . . . . | 12 . g.29832
GAACCCCTCTTCCGCCAGCTGGCCAAGTGTGTCTCTAGCCCCCATTTCCAG | GTGGCAGAG c.1260
E P L F R Q L A K C V S S P H F Q | V A E p.420
. . . . . . g.29892
CGTGCTCTCTATTACTGGAACAATGAGTACATCATGAGCCTGATAAGTGACAATGCTGCC c.1320
R A L Y Y W N N E Y I M S L I S D N A A p.440
. . . . . | 13 g.30970
CGAGTCCTCCCCATCATGTTCCCTGCACTCTACAGGAACTCCAAGAGCCACTGGAACAA | G c.1380
R V L P I M F P A L Y R N S K S H W N K | p.460
. . . . . . g.31030
ACAATCCATGGACTGATCTATAATGCCCTGAAGTTGTTTATGGAAATGAATCAGAAGCTG c.1440
T I H G L I Y N A L K L F M E M N Q K L p.480
. . . . | 14 . . g.31184
TTTGATGACTGCACACAACAATACAAGGCAGAGAAGCAGAA | GGGCCGGTTCCGAATGAAG c.1500
F D D C T Q Q Y K A E K Q K | G R F R M K p.500
. . . . . | 15 . g.31388
GAAAGGGAAGAGATGTGGCAAAAAATCGAGGAGCTGGCCCGGCTTAATCCCCAG | TATCCC c.1560
E R E E M W Q K I E E L A R L N P Q | Y P p.520
. . . . . . g.31448
ATGTTCCGAGCCCCTCCACCACTGCCCCCTGTGTACTCGATGGAGACAGAGACCCCCACA c.1620
M F R A P P P L P P V Y S M E T E T P T p.540
. . . . . | 16 . g.31659
GCTGAGGACATCCAGCTTCTGAAGAGGACTGTGGAGACTGAGGCTGTTCAG | ATGCTAAAA c.1680
A E D I Q L L K R T V E T E A V Q | M L K p.560
. . . . . . g.31719
GACATCAAGAAGGAGAAAGTGCTGCTGCGGAGGAAGTCGGAGCTGCCCCAGGACGTGTAC c.1740
D I K K E K V L L R R K S E L P Q D V Y p.580
. . . . . . g.31779
ACCATCAAGGCACTGGAGGCGCACAAGCGGGCGGAAGAGTTCCTAACTGCCAGCCAGGAG c.1800
T I K A L E A H K R A E E F L T A S Q E p.600
g.31788
GCTCTCTGA c.1809
A L X p.602
. . . . . . g.31848
cccctcacgttcctaccacagggccacagcccacacagccctgggacactgccctggccc c.*60
. . . . . . g.31908
tccatactctgctccctactggctgtcttgggggaaggcagcgcctctctagctactcaa c.*120
. . . . . . g.31968
gggagggggatgtgggcacttgaagcagggacacccacagaatggtccctcttctcccca c.*180
. . . . . . g.32028
aaaggtgttcatgcctccctgtggctagtacaggctgagcactaagatgcttagtgctca c.*240
. . . . . . g.32088
gacaacctggggatgcctgtcccctacctgctcctcacccacagctacctgaggctgctc c.*300
. . . . . . g.32148
tgagaagtacacacaggaatacatacgctcctctattcttcccttcatcctcatttgaac c.*360
. . . . . . g.32208
gccaggtatctcccctcctctctctcccctgcagaggcatgtagggaacagcaggagatt c.*420
. . . . . . g.32268
attctcaccaaagttatgtcaagccccattggtcccagagtagctgaagggaagccaacc c.*480
. . . . . . g.32328
cccctgcagcacaaataggccccccagtcccagccgtgtgctggcagatagggttgtatt c.*540
. . . . . . g.32388
atttcttcttaccccatgcctgaccaagggaggtcaaaaggagaaaagtataggctgtgg c.*600
. . . . . . g.32448
acaataactgatgaatatagggcccagatggaccaagtggggccggggagggatgaataa c.*660
. . . . . . g.32508
acaccctaccccgtgccctgtctttggtgagcagcagccctggggtcacagacatggaag c.*720
. . . . . . g.32568
ggaccaccctggggctgactgcttttctgtgctgttggttcccaaaactagaaagaagga c.*780
. . . . . . g.32628
agcagggagcggtgccccaagcatggctcctgccaacacctatttatttccttgtttgtg c.*840
. . . . . . g.32688
ctatgctgggcaggccttctcttgtcccttataggtaccttggaggggccaggggctgag c.*900
. . . . . . g.32748
gaaggccggacccaggttccaggggcgcaggcagtgcggcttttggctgtgtacataggg c.*960
. . . . . . g.32808
tgctttattctccacagagtgatacatgctaaggtgggttgggcttggaccgatgtcccc c.*1020
. . . g.32847
atatgtacagaactgaataaagtgggtctctgagaagtc c.*1059
(downstream sequence)
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