(used for variant description)
(last modified March 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004572.3 in the PKP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering PKP2 transcript NM_004572.3.
(upstream sequence)
. . . . . g.5055
aggggcggggccggactcgagcggggcggggctcgcgccagcgcccccagctccg c.-61
. . . . . . g.5115
tggcggcttcgcccgcgagtccagaggcaggcgagcagctcggtcgcccccaccggcccc c.-1
. . . . . . g.5175
ATGGCAGCCCCCGGCGCCCCAGCTGAGTACGGCTACATCCGGACCGTCCTGGGCCAGCAG c.60
M A A P G A P A E Y G Y I R T V L G Q Q p.20
. . . . . . g.5235
ATCCTGGGACAACTGGACAGCTCCAGCCTGGCGCTGCCCTCCGAGGCCAAGCTGAAGCTG c.120
I L G Q L D S S S L A L P S E A K L K L p.40
. . . . . . g.5295
GCGGGGAGCAGCGGCCGCGGCGGCCAGACAGTCAAGAGCCTGCGGATCCAGGAGCAGGTG c.180
A G S S G R G G Q T V K S L R I Q E Q V p.60
. . . . | 02 . . g.22831
CAGCAGACCCTCGCCCGGAAGGGCCGCAGCTCCGTGGGCAACG | GAAATCTTCACCGAACC c.240
Q Q T L A R K G R S S V G N G | N L H R T p.80
. . . . . . g.22891
AGCAGTGTTCCTGAGTATGTCTACAACCTACACTTGGTTGAAAATGATTTTGTTGGAGGC c.300
S S V P E Y V Y N L H L V E N D F V G G p.100
. . . | 03 . . . g.23327
CGTTCCCCTGTTCCTAAAACCTATGACATGCTAAAG | GCTGGCACAACTGCCACTTATGAA c.360
R S P V P K T Y D M L K | A G T T A T Y E p.120
. . . . . . g.23387
GGTCGCTGGGGAAGAGGAACAGCACAGTACAGCTCCCAGAAGTCCGTGGAAGAAAGGTCC c.420
G R W G R G T A Q Y S S Q K S V E E R S p.140
. . . . . . g.23447
TTGAGGCATCCTCTGAGGAGACTGGAGATTTCTCCTGACAGCAGCCCGGAGAGGGCTCAC c.480
L R H P L R R L E I S P D S S P E R A H p.160
. . . . . . g.23507
TACACGCACAGCGATTACCAGTACAGCCAGAGAAGCCAGGCTGGGCACACCCTGCACCAC c.540
Y T H S D Y Q Y S Q R S Q A G H T L H H p.180
. . . . . . g.23567
CAAGAAAGCAGGCGGGCCGCCCTCCTAGTGCCACCGAGATATGCTCGTTCCGAGATCGTG c.600
Q E S R R A A L L V P P R Y A R S E I V p.200
. . . . . . g.23627
GGGGTCAGCCGTGCTGGCACCACAAGCAGGCAGCGCCACTTTGACACATACCACAGACAG c.660
G V S R A G T T S R Q R H F D T Y H R Q p.220
. . . . . . g.23687
TACCAGCATGGCTCTGTTAGCGACACCGTTTTTGACAGCATCCCTGCCAACCCGGCCCTG c.720
Y Q H G S V S D T V F D S I P A N P A L p.240
. . . . . . g.23747
CTCACGTACCCCAGGCCAGGGACCAGCCGCAGCATGGGCAACCTCTTGGAGAAGGAGAAC c.780
L T Y P R P G T S R S M G N L L E K E N p.260
. . . . . . g.23807
TACCTGACGGCAGGGCTCACTGTCGGGCAGGTCAGGCCGCTGGTGCCCCTGCAGCCCGTC c.840
Y L T A G L T V G Q V R P L V P L Q P V p.280
. . . . . . g.23867
ACTCAGAACAGGGCTTCCAGGTCCTCCTGGCATCAGAGCTCCTTCCACAGCACCCGCACG c.900
T Q N R A S R S S W H Q S S F H S T R T p.300
. . . . . . g.23927
CTGAGGGAAGCTGGGCCCAGTGTCGCCGTGGATTCCAGCGGGAGGAGAGCGCACTTGACT c.960
L R E A G P S V A V D S S G R R A H L T p.320
. . . . . . g.23987
GTCGGCCAGGCGGCCGCAGGGGGAAGTGGGAATCTGCTCACTGAGAGAAGCACTTTCACT c.1020
V G Q A A A G G S G N L L T E R S T F T p.340
. | 04 . . . . . g.32830
GACTCCCAGCTGGG | GAATGCAGACATGGAGATGACTCTGGAGCGAGCAGTGAGTATGCTC c.1080
D S Q L G | N A D M E M T L E R A V S M L p.360
. . . . . . g.32890
GAGGCAGACCACATGCTGCCATCCAGGATTTCTGCTGCAGCTACTTTCATACAGCACGAG c.1140
E A D H M L P S R I S A A A T F I Q H E p.380
. . . | 05 . . . g.50903
TGCTTCCAGAAATCTGAAGCTCGGAAGAGG | GTTAACCAGCTTCGTGGCATCCTCAAGCTT c.1200
C F Q K S E A R K R | V N Q L R G I L K L p.400
. . . . . . g.50963
CTGCAGCTCCTAAAAGTTCAGAATGAAGACGTTCAGCGAGCTGTGTGTGGGGCCTTGAGA c.1260
L Q L L K V Q N E D V Q R A V C G A L R p.420
. . . . . . g.51023
AACTTAGTATTTGAAGACAATGACAACAAATTGGAGGTGGCTGAACTAAATGGGGTACCT c.1320
N L V F E D N D N K L E V A E L N G V P p.440
. . . . . | 06 g.58535
CGGCTGCTCCAGGTGCTGAAGCAAACCAGAGACTTGGAGACTAAAAAACAAATAACAG | AC c.1380
R L L Q V L K Q T R D L E T K K Q I T D | p.460
. . . . . . g.58595
CATACAGTCAATTTAAGAAGTAGGAATGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAAT c.1440
H T V N L R S R N G W P G A V A H A C N p.480
. . . . . . g.58655
CCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCT c.1500
P S T L G G Q G G R I T R S G V R D Q P p.500
. | 07 . . . . . g.60691
GACCAACATG | GTTTGCTGTGGAATTTGTCATCTAATGACAAACTCAAGAATCTCATGATA c.1560
D Q H G | L L W N L S S N D K L K N L M I p.520
. . . . . . g.60751
ACAGAAGCATTGCTTACGCTGACGGAGAATATCATCATCCCCTTTTCTGGGTGGCCTGAA c.1620
T E A L L T L T E N I I I P F S G W P E p.540
. . . . . . g.60811
GGAGACTACCCAAAAGCAAATGGTTTGCTCGATTTTGACATATTCTACAACGTCACTGGA c.1680
G D Y P K A N G L L D F D I F Y N V T G p.560
| 08 . . . . . g.77736
TGCCTAAG | AAACATGAGTTCTGCTGGCGCTGATGGGAGAAAAGCGATGAGAAGATGTGAC c.1740
C L R | N M S S A G A D G R K A M R R C D p.580
. . . . . . g.77796
GGACTCATTGACTCACTGGTCCATTATGTCAGAGGAACCATTGCAGATTACCAGCCAGAT c.1800
G L I D S L V H Y V R G T I A D Y Q P D p.600
| 09 . . . . . . g.79269
GACAAG | GCCACGGAGAATTGTGTGTGCATTCTTCATAACCTCTCCTACCAGCTGGAGGCA c.1860
D K | A T E N C V C I L H N L S Y Q L E A p.620
. . . . . . g.79329
GAGCTCCCAGAGAAATATTCCCAGAATATCTATATTCAAAACCGGAATATCCAGACTGAC c.1920
E L P E K Y S Q N I Y I Q N R N I Q T D p.640
. . . . . | 10 . g.80326
AACAACAAAAGTATTGGATGTTTTGGCAGTCGAAGCAGGAAAGTAAAAGAG | CAATACCAG c.1980
N N K S I G C F G S R S R K V K E | Q Y Q p.660
. . . . . . g.80386
GACGTGCCGATGCCGGAGGAAAAGAGCAACCCCAAGGGCGTGGAGTGGCTGTGGCATTCC c.2040
D V P M P E E K S N P K G V E W L W H S p.680
. . . . . . g.80446
ATTGTTATAAGGATGTATCTGTCCTTGATCGCCAAAAGTGTCCGCAACTACACACAAGAA c.2100
I V I R M Y L S L I A K S V R N Y T Q E p.700
. . . . | 11 . . g.99305
GCATCCTTAGGAGCTCTGCAGAACCTCACGGCCGGAAGTGGACCA | ATGCCGACATCAGTG c.2160
A S L G A L Q N L T A G S G P | M P T S V p.720
. . . . . . g.99365
GCTCAGACAGTTGTCCAGAAGGAAAGTGGCCTGCAGCACACCCGAAAGATGCTGCATGTT c.2220
A Q T V V Q K E S G L Q H T R K M L H V p.740
. . . . . . g.99425
GGTGACCCAAGTGTGAAAAAGACAGCCATCTCGCTGCTGAGGAATCTGTCCCGGAATCTT c.2280
G D P S V K K T A I S L L R N L S R N L p.760
. | 12 . . . . g.105589
TCTCTGCAGAATGAAATTG | CCAAAGAAACTCTCCCTGATTTGGTTTCCATCATTCCTGAC c.2340
S L Q N E I A | K E T L P D L V S I I P D p.780
. . . . . . g.105649
ACAGTCCCGAGTACTGACCTTCTCATTGAAACTACAGCCTCTGCCTGTTACACATTGAAC c.2400
T V P S T D L L I E T T A S A C Y T L N p.800
. . . . . . g.105709
AACATAATCCAAAACAGTTACCAGAATGCACGCGACCTTCTAAACACCGGGGGCATCCAG c.2460
N I I Q N S Y Q N A R D L L N T G G I Q p.820
. . | 13 . . . g.109146
AAAATTATGGCCATTAGTGCAGGCGATGC | CTATGCCTCCAACAAAGCAAGTAAAGCTGCT c.2520
K I M A I S A G D A | Y A S N K A S K A A p.840
. . . . . | 14. g.109357
TCCGTCCTTCTGTATTCTCTGTGGGCACACACGGAACTGCATCATGCCTACAAGAAG | GCT c.2580
S V L L Y S L W A H T E L H H A Y K K | A p.860
. . . . . . g.109417
CAGTTTAAGAAGACAGATTTTGTCAACAGCCGGACTGCCAAAGCCTACCACTCCCTTAAA c.2640
Q F K K T D F V N S R T A K A Y H S L K p.880
g.109423
GACTGA c.2646
D X p.881
. . . . . . g.109483
ggaaaatgacaaagtattctcggctgcaaaaatccccaaaggaaaacacctatttttcta c.*60
. . . . . . g.109543
ctacccagcccaagaaacctcaaaagcatgccttgtttctatccttctctatttccgtgg c.*120
. . . . . . g.109603
tcccctgaatccagaaaacaaatagaacataattttatgagtcttccagaagacctttgc c.*180
. . . . . . g.109663
aagtttgccaccagtagataccggccacaggctcgacaaatagtggtctttgttattagg c.*240
. . . . . . g.109723
gcttatggtacatggcttcctggaatcaaaatgtgaattcatgtggaagggacattaatc c.*300
. . . . . . g.109783
caataaataaggaaagaagctgttgcattactgggattttaaaagtttgatttacattta c.*360
. . . . . . g.109843
tattccttttctggttcccatgttttgtcactcatgtgcacattgcttcgccattgggcc c.*420
. . . . . . g.109903
tccagtgtattgttctgcagtgttgaaacagaatggaaatgacaagaaatatctgcagtt c.*480
. . . . . . g.109963
atccaggagaaagtataatggcaaaattattggtttctttctttactttgtgcttgtttt c.*540
. . . . . . g.110023
tatccccttgggttgtttttctctgatttttaaataaacttaagaaatttagattacaga c.*600
. . . . . . g.110083
gtatgcatgactgtaagaaaaagaaattgagaggaagtgatcatagcaaattaaagaagt c.*660
. . . . . . g.110143
cttttcctcccagaacttaaagtaaaataaaaaataaataaataaataaaatcttttcca c.*720
. . . . . . g.110203
cagagaaaggcaactgtgatgataaaatttaacgttcccccaaacactgagtcaatgaga c.*780
. . . . . . g.110263
tttttctcaggagatactttacctataacaacgccgttaaatccaaatctcttctaaacg c.*840
. . . . . . g.110323
atggcattctatgtaatgcctttcctggacttttttggccactgccctggactagtgaaa c.*900
. . . . . . g.110383
gaatggactctatctttatctgcaagaggaactaaggccttctctcagactgcctggcca c.*960
. . . . . . g.110443
gcctggggcactgaaaatacggctcatgttaatgagttacattatcagccagcccagcct c.*1020
. . . . . . g.110503
tgcccaccatttaagaaatatcacagagccactagatctcatatgatcttcttcaagcca c.*1080
. . . . . . g.110563
ttattttaactcaagaaaactctagagaagaaaagtgaagaagtcatgttgaagaagatg c.*1140
. . . . . . g.110623
taagaatgtgtcaagaccatccagaaatgatatgagaaatactgatattttaaatggttg c.*1200
. . . . . . g.110683
acatcatccagcgaaatgaatctacattaaatgttgttttaactgcgctatgattaaaac c.*1260
. . . . . . g.110743
cattcatatagagttagtctttacaactactattctgttatttttttttttaatctgaca c.*1320
. . . . . . g.110803
acatttgtcctaagtaagataagcaaaaaaattcttcaactccttttggcaagaaaactg c.*1380
. . . . . . g.110863
taacagaaaataaattttgaatgtgtacttaagtctttattatatttgaagcaatttttt c.*1440
. . . . . . g.110923
ttcaattttaaaagctgaatgaagacaacttaggttgctaacctagttcaaaatgaaatt c.*1500
. . . . . . g.110983
atttagataccaatttttaaaatactggagagaatttatatgtctttttccagagttctg c.*1560
. . . . . . g.111043
atgataagcatttggagtgcatttattcctccagataataaatgtgtgttcagaactttt c.*1620
. . . . . g.111101
tgtgttttttaaggcattaataaagccttcgataatattaaatacaaaatgagaccaa c.*1678
(downstream sequence)
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