(used for variant description)
(last modified March 31, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_014225.5 in the PPP2R1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering PPP2R1A transcript NM_014225.5.
(upstream sequence)
. . . . . g.5055
aatcttggtcgctaggacacggctaacttccgctttcttccccctctcctaggct c.-241
. . . . . . g.5115
caaactagtcaaatcttgttcactcgaccaatggcaaatcggaagtgggcgggacttcac c.-181
. . . . . . g.5175
aagtccggaccaaagaaacgcgagcttagccctgggtagcgcggccaatggccgtggagc c.-121
. . . . . . g.5235
agcccctgtaaactggctcgggcgcccccacgcccgcccttccttcttctcccagcattg c.-61
. . . . . . g.5295
ccccccccacgtttcagcacagcgctggccgcagtctgacaggaaagggacggagccaag c.-1
. . . . . . g.5355
ATGGCGGCGGCCGACGGCGACGACTCGCTGTACCCCATCGCGGTGCTCATAGACGAACTC c.60
M A A A D G D D S L Y P I A V L I D E L p.20
. | 02 . . . . g.17184
CGCAATGAGGACGTTCAG | CTTCGCCTCAACAGCATCAAGAAGCTGTCCACCATCGCCTTG c.120
R N E D V Q | L R L N S I K K L S T I A L p.40
. . . . | 03 . g.21172
GCCCTTGGGGTTGAAAGGACCCGAAGTGAGCTTCTGCCTTTCCTTACAG | ATACCATCTAT c.180
A L G V E R T R S E L L P F L T D | T I Y p.60
. . . . . . g.21232
GATGAAGATGAGGTCCTCCTGGCCCTGGCAGAACAGCTGGGAACCTTCACTACCCTGGTG c.240
D E D E V L L A L A E Q L G T F T T L V p.80
. . . | 04 . . . g.26488
GGAGGCCCAGAGTACGTGCACTGCCTGCTG | CCACCGCTGGAGTCGCTGGCCACAGTGGAG c.300
G G P E Y V H C L L | P P L E S L A T V E p.100
. . . . . . g.26548
GAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCG c.360
E T V V R D K A V E S L R A I S H E H S p.120
. . . . . . g.26608
CCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGG c.420
P S D L E A H F V P L V K R L A G G D W p.140
. . . . . . g.26668
TTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGT c.480
F T S R T S A C G L F S V C Y P R V S S p.160
. . | 05 . . . . g.27921
GCTGTGAAGGCGGAACTTCGACA | GTACTTCCGGAACCTGTGCTCAGATGACACCCCCATG c.540
A V K A E L R Q | Y F R N L C S D D T P M p.180
. . . . . . g.27981
GTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAAC c.600
V R R A A A S K L G E F A K V L E L D N p.200
. . . . . | 06 . g.28162
GTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAG | GACTCGGTG c.660
V K S E I I P M F S N L A S D E Q | D S V p.220
. . . . . . g.28222
CGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTG c.720
R L L A V E A C V N I A Q L L P Q E D L p.240
. . . . . . g.28282
GAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGC c.780
E A L V M P T L R Q A A E D K S W R V R p.260
. . | 07. . . . g.31010
TACATGGTGGCTGACAAGTTCACAGAG | CTCCAGAAAGCAGTGGGGCCTGAGATCACCAAG c.840
Y M V A D K F T E | L Q K A V G P E I T K p.280
. . . . . . g.31070
ACAGACCTGGTCCCTGCCTTCCAGAACCTGATGAAAGACTGTGAGGCCGAGGTGAGGGCC c.900
T D L V P A F Q N L M K D C E A E V R A p.300
. . | 08 . . . . g.31240
GCAGCCTCCCACAAGGTCAAAG | AGTTCTGTGAAAACCTCTCAGCTGACTGTCGGGAGAAT c.960
A A S H K V K E | F C E N L S A D C R E N p.320
. . . | 09 . . . g.31754
GTGATCATGTCCCAGATCTTGCCCTGCATCAAG | GAGCTGGTGTCCGATGCCAACCAACAT c.1020
V I M S Q I L P C I K | E L V S D A N Q H p.340
. . . . . . g.31814
GTCAAGTCTGCCCTGGCCTCAGTCATCATGGGTCTCTCTCCCATCTTGGGCAAAGACAAC c.1080
V K S A L A S V I M G L S P I L G K D N p.360
. . . . | 10 . g.34901
ACCATCGAGCACCTCTTGCCCCTCTTCCTGGCTCAGCTGAAGGATGAG | TGCCCTGAGGTA c.1140
T I E H L L P L F L A Q L K D E | C P E V p.380
. . . . . . g.34961
CGGCTGAACATCATCTCTAACCTGGACTGTGTGAACGAGGTGATTGGCATCCGGCAGCTG c.1200
R L N I I S N L D C V N E V I G I R Q L p.400
. . . . . . g.35021
TCCCAGTCCCTGCTCCCTGCCATTGTGGAGCTGGCTGAGGACGCCAAGTGGCGGGTGCGG c.1260
S Q S L L P A I V E L A E D A K W R V R p.420
. . . . | 11 . . g.35405
CTGGCCATCATTGAGTACATGCCCCTCCTGGCTGGACAGCTG | GGAGTGGAGTTCTTTGAT c.1320
L A I I E Y M P L L A G Q L | G V E F F D p.440
. . . . | 12 . . g.36194
GAGAAACTTAACTCCTTGTGCATGGCCTGGCTTGTGGATCATG | TATATGCCATCCGCGAG c.1380
E K L N S L C M A W L V D H V | Y A I R E p.460
. . . . . . g.36254
GCAGCCACCAGCAACCTGAAGAAGCTAGTGGAAAAGTTTGGGAAGGAGTGGGCCCATGCC c.1440
A A T S N L K K L V E K F G K E W A H A p.480
. . . . . . g.36314
ACAATCATCCCCAAGGTCTTGGCCATGTCCGGAGACCCCAACTACCTGCACCGCATGACT c.1500
T I I P K V L A M S G D P N Y L H R M T p.500
. | 13 . . . . g.37339
ACGCTCTTCTGCATCAAT | GTGCTGTCTGAGGTCTGTGGGCAGGACATCACCACCAAGCAC c.1560
T L F C I N | V L S E V C G Q D I T T K H p.520
. . . . . . g.37399
ATGCTACCCACGGTTCTGCGCATGGCTGGGGACCCGGTTGCCAATGTCCGCTTCAATGTG c.1620
M L P T V L R M A G D P V A N V R F N V p.540
. . . . | 14 . . g.40934
GCCAAGTCTCTGCAGAAGATAGGGCCCATCCTGGACAACAG | CACCTTGCAGAGTGAAGTC c.1680
A K S L Q K I G P I L D N S | T L Q S E V p.560
. . . . . . g.40994
AAGCCCATCCTAGAGAAGCTGACCCAGGACCAGGATGTGGACGTCAAATACTTTGCCCAG c.1740
K P I L E K L T Q D Q D V D V K Y F A Q p.580
. | 15 . . g.41210
GAGGCTCTGACTG | TTCTGTCTCTCGCCTGA c.1770
E A L T V | L S L A X p.589
. . . . . . g.41270
tgctggaagaggagcaaacactggcctctggtgtccaccctccaacccccacaagtccct c.*60
. . . . . . g.41330
ctttggggagacactggggggcctttggctgtcactccctgtgcatggtctgaccccagg c.*120
. . . . . . g.41390
ccccttcccccagcacggttcctcctctccccagcctgggaagatgtctcactgtccacc c.*180
. . . . . . g.41450
tcccaacgggctaggggagcacggggttggacaggacagtgaccttgggaggaaggggct c.*240
. . . . . . g.41510
actccgcccacgtcagggagagatgtgagcatcccgggtcactggatcctgctgctgtaa c.*300
. . . . . . g.41570
tgggaacccctcccccatttacttctccacctcccgtcctccccatcattggtttttttt c.*360
. . . . . . g.41630
tgtgtgtcaactgtgccgtttttattttattccttttattttcccccttttcacagagaa c.*420
. . g.41654
ataaaggtctagaagtagttggtc c.*444
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2025 Leiden University Medical Center