(used for variant description)
(last modified June 1, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000944.4 in the PPP3CA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering PPP3CA transcript NM_000944.4.
(upstream sequence)
. g.5015
aggagcggcgcgggg c.-661
. . . . . . g.5075
aggcagaggcgagcgcgggcgatcgcggcggcgggacgtctccggcggccgcggcaccag c.-601
. . . . . . g.5135
cggcggcgctctgtgtggagaagcaggggcagcggcagcagcaacagcggcagcggcagc c.-541
. . . . . . g.5195
agcagcggcagcagcggcggccgcctctccgccgccggggacgccaaggtgcggctggtg c.-481
. . . . . . g.5255
gcactgacatcggcggccctgcctctcctccctcgcccccggccttccccatgtgatcgg c.-421
. . . . . . g.5315
tcttaatcctggccgtgtgtgcgcgcgtggggctccattccgcggtgctgggtctccgtg c.-361
. . . . . . g.5375
ccggggtgggtgctcgtgtgtgcgcttctcctccccatcccccttcccccaagaataaaa c.-301
. . . . . . g.5435
gaagaaccgggaggcgtgctcagaaaataaataaataaccaccacacacgcgcagcccgg c.-241
. . . . . . g.5495
agcgagtcggcggggctggcggcagcggcggaggaggagtgaaggcggcggcggcggagg c.-181
. . . . . . g.5555
agggacgcgcggaaaaggcagcaactttaaagccagctcagagcctagacctccagccga c.-121
. . . . . . g.5615
gcggtttgcagcgcggcggcggcggcggcggcggcggcgttgagtgtctggcccgccggt c.-61
. . . . . . g.5675
ccggtcggggtgtgcagtcggacggacgagcagcgcgtcgctgtcctccggcagctggag c.-1
. . . . . | 02 g.156357
ATGTCCGAGCCCAAGGCAATTGATCCCAAGTTGTCGACGACCGACAGGGTGGTGAAAG | CT c.60
M S E P K A I D P K L S T T D R V V K A | p.20
. . . . . . g.156417
GTTCCATTTCCTCCAAGTCACCGGCTTACAGCAAAAGAAGTGTTTGATAATGATGGAAAA c.120
V P F P P S H R L T A K E V F D N D G K p.40
. . . . . . g.156477
CCTCGTGTGGATATCTTAAAGGCGCATCTTATGAAGGAGGGAAGGCTGGAAGAGAGTGTT c.180
P R V D I L K A H L M K E G R L E E S V p.60
. . . . . . g.156537
GCATTGAGAATAATAACAGAGGGTGCATCAATTCTTCGACAGGAAAAAAATTTGCTGGAT c.240
A L R I I T E G A S I L R Q E K N L L D p.80
. | 03 . . . . g.243434
ATTGATGCGCCAGTCACTG | TTTGTGGGGACATTCATGGACAATTCTTTGATTTGATGAAG c.300
I D A P V T V | C G D I H G Q F F D L M K p.100
. . . . . . g.243494
CTCTTTGAAGTCGGGGGATCTCCTGCCAACACTCGCTACCTCTTCTTAGGGGACTATGTT c.360
L F E V G G S P A N T R Y L F L G D Y V p.120
. . | 04 . . . . g.252785
GACAGAGGGTACTTCAGTATTGAA | TGTGTGCTGTATTTGTGGGCCTTGAAAATTCTCTAC c.420
D R G Y F S I E | C V L Y L W A L K I L Y p.140
. . . . . . g.252845
CCCAAAACACTGTTTTTACTTCGTGGAAATCATGAATGTAGACATCTAACAGAGTATTTC c.480
P K T L F L L R G N H E C R H L T E Y F p.160
. | 05 . . . . . g.254003
ACATTTAAACAAGAAT | GTAAAATAAAGTATTCAGAACGCGTATATGATGCCTGTATGGAT c.540
T F K Q E C | K I K Y S E R V Y D A C M D p.180
. . . . . . g.254063
GCCTTTGACTGCCTTCCCCTGGCTGCCCTGATGAACCAACAGTTCCTGTGTGTGCATGGT c.600
A F D C L P L A A L M N Q Q F L C V H G p.200
. . . . | 06 . . g.258574
GGTTTGTCTCCAGAGATTAACACTTTAGATGATATCAGAAAA | TTAGACCGATTCAAAGAA c.660
G L S P E I N T L D D I R K | L D R F K E p.220
. . . . . . g.258634
CCACCTGCATATGGACCTATGTGTGATATCCTGTGGTCAGACCCCCTGGAAGATTTTGGA c.720
P P A Y G P M C D I L W S D P L E D F G p.240
. . . . . . g.258694
AATGAGAAGACTCAGGAACATTTCACTCACAACACAGTCAGGGGGTGTTCATACTTCTAC c.780
N E K T Q E H F T H N T V R G C S Y F Y p.260
| 07 . . . . . . g.269266
AG | TTACCCGGCTGTATGTGAATTCTTACAGCACAATAACTTGTTATCTATACTCCGAGCC c.840
S | Y P A V C E F L Q H N N L L S I L R A p.280
. . | 08 . . . . g.271885
CACGAAGCCCAAGATGCAGG | GTACCGCATGTACAGGAAAAGCCAAACAACAGGCTTCCCT c.900
H E A Q D A G | Y R M Y R K S Q T T G F P p.300
. . . . . | 09 . g.289119
TCTCTAATTACAATTTTTTCAGCACCAAATTACTTAGATGTATACAATAACAAAG | CTGCA c.960
S L I T I F S A P N Y L D V Y N N K A | A p.320
. . . . . . g.289179
GTATTGAAGTATGAGAACAATGTTATGAATATCAGGCAATTCAACTGTTCTCCTCATCCA c.1020
V L K Y E N N V M N I R Q F N C S P H P p.340
. . . . . . g.289239
TACTGGCTTCCAAATTTCATGGATGTTTTTACTTGGTCCCTTCCATTTGTTGGGGAAAAA c.1080
Y W L P N F M D V F T W S L P F V G E K p.360
| 10 . . . . . . g.291369
G | TGACTGAGATGCTGGTAAATGTCCTCAACATCTGCTCAGATGATGAACTAGGGTCAGAA c.1140
V | T E M L V N V L N I C S D D E L G S E p.380
. | 11 . . . . . g.311949
GAAGATGGATTTGATG | GTGCAACAGCTGCAGCCCGGAAAGAGGTGATAAGGAACAAGATC c.1200
E D G F D G | A T A A A R K E V I R N K I p.400
. . . . | 12 . . g.320126
CGAGCAATAGGCAAAATGGCCAGAGTGTTCTCAGTGCTCAG | AGAAGAGAGTGAGAGTGTG c.1260
R A I G K M A R V F S V L R | E E S E S V p.420
. . . . . . g.320186
CTGACGCTGAAAGGCTTGACCCCAACTGGCATGCTCCCCAGCGGAGTACTTTCTGGAGGG c.1320
L T L K G L T P T G M L P S G V L S G G p.440
. | 13 . . | 14 . g.326421
AAGCAAACCCTGCAAAGCG | CTACTGTTGAGGCTATTGAGGCTGATGAAG | CTATCAAAGGA c.1380
K Q T L Q S A | T V E A I E A D E A | I K G p.460
. . . . . . g.326481
TTTTCACCACAACATAAGATCACTAGCTTCGAGGAAGCCAAGGGCTTAGACCGAATTAAT c.1440
F S P Q H K I T S F E E A K G L D R I N p.480
. . . . . . g.326541
GAGAGGATGCCGCCTCGCAGAGATGCCATGCCCTCTGACGCCAACCTTAACTCCATCAAC c.1500
E R M P P R R D A M P S D A N L N S I N p.500
. . . . . . g.326601
AAGGCTCTCACCTCAGAGACTAACGGCACGGACAGCAATGGCAGTAATAGCAGCAATATT c.1560
K A L T S E T N G T D S N G S N S S N I p.520
g.326607
CAGTGA c.1566
Q X p.521
. . . . . . g.326667
ccacttcctgttcactttttttttttttttttttttttttttttgagctgcggggcatga c.*60
. . . . . . g.326727
tggggattgctgcatatcagcagttggatgttcttgcctctgacagtagcttatttgctc c.*120
. . . . . . g.326787
tgggggccaggaattggattcagtttacactatcattaaaaaagagggagagagataata c.*180
. . . . . . g.326847
aactatattttggtggggatggtgattaaacacctcttttgggtatgccttttaaaaatg c.*240
. . . . . . g.326907
cttatagagaaaaaaaattttaaaaagaaagctaatgctagtatatactgcaatgttagg c.*300
. . . . . . g.326967
ggaatgaacatgttttcctactgcattggggacttctagataggttaatgaaaggccttt c.*360
. . . . . . g.327027
tattctgttactggacatgaaaactttgtctaatttcttactctattgtacgtttacagt c.*420
. . . . . . g.327087
cgcagcactaaaaatggatgacatcaaacatttttaacaaaatgatgtacaaactaagga c.*480
. . . . . . g.327147
ctatttattgataatgttttgctactcttgtcagacaatggctataaactgaattaggca c.*540
. . . . . . g.327207
gtcttaaaaaaaaaaaaaaacagaaaaagaaaaaaaagaacgttgcaaatttgttaaaat c.*600
. . . . . . g.327267
gccaaaaaggacagtttaattttgtacagattatgcttacctcaggtttctttagtgtgc c.*660
. . . . . . g.327327
ttgaatgcccttctttccatataacacttatcttcttcttaattcggcaatggaatatct c.*720
. . . . . . g.327387
tttaagttttaaaaaaactggaataattatatctatcttttttgccgtttatatttaggg c.*780
. . . . . . g.327447
gtttttgttgataaaatcaagtcttggttgtggcttgctgaattaaatatttatgagtgg c.*840
. . . . . . g.327507
tgcatttttaagtatagtgaacaagacaccatattaagtacagtgataaagcatctatat c.*900
. . . . . . g.327567
tctgtaaaaaaaaaaaaaatctgcctatgcatgttttttaagaaaaaaaaaatggctgta c.*960
. . . . . . g.327627
tcggcctgtatgggactgtaatgcgcttagtggtctgacatatactggaaatgtatgtat c.*1020
. . . . . . g.327687
actggcgtactttatattctctaaaatgcttaatgcctttgaaattttgtaatcaaaaaa c.*1080
. . . . . . g.327747
aagctttgaaaaaatctaaaggggagagtattctttaaagtttttaacataagcttgtca c.*1140
. . . . . . g.327807
atgcacatgtagatggttagcatgtttagcaaaccttgtgaaattataataagtttgtag c.*1200
. . . . . . g.327867
ttacatgtgaaactctaaatgcatggcaactgttaatgtcataacagtttagttattttg c.*1260
. . . . . . g.327927
ttctgttctgtcatgtgccacaaaatatgtacttttttcacttttttccctttgtatatc c.*1320
. . . . . . g.327987
agttacgggttacaactggttcattctgaaaacaacaacaacaaaagtccattcatattt c.*1380
. . . . . . g.328047
tttaacaattgtataagtgcccaagtaattcactacagcctaaagccttgcctttgtaat c.*1440
. . . . . . g.328107
ttgacttctgacatgttggcaatcaaagcatgcacttgtaacaatgaaaaagaaaaagca c.*1500
. . . . . . g.328167
ttttatattactactcaataaaatgtgcatgaacttacagaattctcatccttccactga c.*1560
. . . . . . g.328227
gtccgctgaagggatttatgtgcacaaccaccatgtgtcttctaggtgctggcccaccac c.*1620
. . . . . . g.328287
cacacatcacaggctgatttccacaggcttcttcctaggggcctcgtgatctgaggggtg c.*1680
. . . . . . g.328347
gtgcctacttccactgtaagaaagaatcttggtggatttgtgtctcaaatcagataagag c.*1740
. . . . . . g.328407
aagcctgtttaaagagcagatgccatcttctggcttcctcaaggagccagttaaaaaacc c.*1800
. . . . . . g.328467
agagcattcctttttattgaaaaataaaattaatttgttatcaggttgtttcagttgtat c.*1860
. . . . . . g.328527
tggatgccctatctatctgctaaagcaaaaagtactaggctactaagtgcattttcatca c.*1920
. . . . . . g.328587
cagaaaagagttgcatttgtattaacaagaaatttgtatacccacgcttcagctactatc c.*1980
. . . . . . g.328647
taatcatcacccgaagatttaagatacaccaaatttcagtttgtttgtaacattgttcat c.*2040
. . . . . . g.328707
ctttagtgcactttgttttatataataaagtatgcctgttatattaaataataagaatat c.*2100
. . . . . . g.328767
ggcaattagcgatatagcatacccaaacaaagatgttctcgatacagtctggcaaagact c.*2160
. . . . . . g.328827
atcccaaggttattttaatgaattcagacattttttcctgtggatatttctccatcctaa c.*2220
. . . . . . g.328887
aaaaagtggcaaccaaggaaaatatttagatgcaacttactagagtgatgatgtgaaaga c.*2280
. . . . . . g.328947
aatggtgattctggtatcatggtgtttattttctttcttataactgcagagaaaatatcc c.*2340
. . . . . . g.329007
tgactaaaaaaaattcatttttttggattcctttcttttacaaattgtgctgaggcaact c.*2400
. . . g.329042
atggcatagaaataaacatttgacattaaaataag c.*2435
(downstream sequence)
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