(used for variant description)
(last modified February 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001198879.1 in the ATP5J2-PTCD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ATP5J2-PTCD1 transcript NM_001198879.1.
(upstream sequence)
. . . . . . g.5060
gtgcattccctacccagcagccctcgcgcggtccggcacagcggacaccaggactccaaa c.-1
. | 02 . . . . . g.11055
ATGGCGTCAGTTG | TACCAGTGAAGGACAAGAAACTTCTGGAGGTCAAACTGGGGGAGCTG c.60
M A S V V | P V K D K K L L E V K L G E L p.20
. . . . . . g.11115
CCAAGCTGGATCTTGATGCGGGACTTCAGTCCTAGTGGCATTTTCGGAGCGTTTCAAAGA c.120
P S W I L M R D F S P S G I F G A F Q R p.40
| 03 . . . . . . g.35992
G | GCCCTGGAGGGACAGGAAAGCCAGAAATGGACTTCGTGAGACTCGCTCGACTGTTCGCC c.180
G | P G G T G K P E M D F V R L A R L F A p.60
. . . . . . g.36052
AGGGCCCGCCCCATGGGACTGTTCATCCTGCAACACCTGGACCCCTGTAGAGCCAGGTGG c.240
R A R P M G L F I L Q H L D P C R A R W p.80
. . . . . . g.36112
GCAGGAGGCAGGGAGGGGCTGATGCGGCCAATGTGGGCGCCCTTCAGCAGCTCCTCCTCT c.300
A G G R E G L M R P M W A P F S S S S S p.100
. . . . . . g.36172
CAGCTGCCCCTCGGCCAGGAGCGTCAGGAAAACACGGGCAGCCTGGGCTCTGACCCGAGC c.360
Q L P L G Q E R Q E N T G S L G S D P S p.120
. . . . . . g.36232
CACTCCAACTCCACGGCCACGCAGGAAGAAGACGAGGAGGAGGAGGAGAGTTTTGGGACC c.420
H S N S T A T Q E E D E E E E E S F G T p.140
. . . . . . g.36292
CTCTCTGACAAATACTCCTCCCGGAGACTATTCCGCAAATCCGCAGCCCAGTTCCATAAC c.480
L S D K Y S S R R L F R K S A A Q F H N p.160
. . . . . . g.36352
CTGCGGTTTGGGGAACGGAGAGATGAGCAAATGGAACCGGAGCCCAAATTATGGCGAGGC c.540
L R F G E R R D E Q M E P E P K L W R G p.180
. . . . . . g.36412
CGGAGAAACACCCCGTACTGGTACTTCTTGCAGTGCAAACACCTGATCAAGGAAGGGAAG c.600
R R N T P Y W Y F L Q C K H L I K E G K p.200
| 04 . . . . . . g.37843
| CTGGTTGAAGCCCTGGACCTGTTTGAGAGGCAGATGCTGAAGGAGGAGCGATTGCAGCCC c.660
| L V E A L D L F E R Q M L K E E R L Q P p.220
. . . . . . g.37903
ATGGAGAGCAACTACACGGTGCTGATTGGGGGCTGCGGGCGGGTTGGCTACCTGAAGAAG c.720
M E S N Y T V L I G G C G R V G Y L K K p.240
. . | 05 . . . . g.41434
GCCTTCAACCTCTACAACCAG | ATGAAAAAGCGGGACCTGGAGCCCTCGGACGCCACCTAC c.780
A F N L Y N Q | M K K R D L E P S D A T Y p.260
. . . . . . g.41494
ACGGCCCTGTTCAACGTCTGTGCCGAGTCCCCCTGGAAGGACTCAGCTCTACAGAGCGCC c.840
T A L F N V C A E S P W K D S A L Q S A p.280
. . . . . . g.41554
CTGAAGCTCCGGCAGCAGCTGCAGGCCAAAAACTTCGAGCTCAACTTGAAAACATACCAC c.900
L K L R Q Q L Q A K N F E L N L K T Y H p.300
. . . . . . g.41614
GCGCTGCTGAAGATGGCTGCCAAGTGCGCAGACCTTAGGATGTGCCTCGATGTGTTCAAG c.960
A L L K M A A K C A D L R M C L D V F K p.320
| 06 . . . . . . g.42057
| GAAATCATCCACAAAGGGCACGTGGTCACAGAGGAGACCTTCAGTTTCCTGCTCATGGGC c.1020
| E I I H K G H V V T E E T F S F L L M G p.340
. . . . | 07 . . g.45603
TGCATCCAAGACAAGAAGACAGGCTTCCGGTACGCCCTCCAG | GTGTGGCGGCTGATGCTG c.1080
C I Q D K K T G F R Y A L Q | V W R L M L p.360
. . . . . . g.45663
AGTCTAGGGCTACAGCCGAGCCGGGACAGCTACAACCTGCTGTTGGTGGCAGCTCGGGAC c.1140
S L G L Q P S R D S Y N L L L V A A R D p.380
. . . . . . g.45723
TGTGGCCTAGGGGACCCCCAGGTGGCCTCAGAGCTGCTTCTGAAGCCCAGGGAGGAGGCG c.1200
C G L G D P Q V A S E L L L K P R E E A p.400
. . . . . . g.45783
ACTGTGCTTCAGCCCCCAGTGAGCAGGCAGCGGCCAAGGAGGACAGCCCAGGCCAAGGCA c.1260
T V L Q P P V S R Q R P R R T A Q A K A p.420
. . . . . . g.45843
GGCAACCTCATGTCAGCCATGCTGCATGTGGAGGCCCTGGAGAGGCAGCTGTTTCTGGAA c.1320
G N L M S A M L H V E A L E R Q L F L E p.440
. . . . . . g.45903
CCTTCTCAGGCACTTGGGCCTCCAGAGCCTCCGGAAGCCAGAGTGCCCGGCAAGGCCCAA c.1380
P S Q A L G P P E P P E A R V P G K A Q p.460
. . . . . . g.45963
CCAGAGGTGGATACTAAGGCAGAGCCCAGCCACACAGCAGCCCTCACCGCAGTGGCCCTG c.1440
P E V D T K A E P S H T A A L T A V A L p.480
. . . . . . g.46023
AAGCCACCTCCCGTGGAGCTGGAAGTCAACCTCCTGACCCCCGGGGCCGTTCCCCCTACA c.1500
K P P P V E L E V N L L T P G A V P P T p.500
. . . . . . g.46083
GTGGTCTCCTTTGGAACGGTGACCACCCCAGCTGACCGGCTGGCCTTGATAGGGGGCCTG c.1560
V V S F G T V T T P A D R L A L I G G L p.520
. . . . . . g.46143
GAGGGCTTCCTGAGCAAGATGGCAGAGCACAGGCAGCAGCCCGACATCAGGACCCTCACG c.1620
E G F L S K M A E H R Q Q P D I R T L T p.540
. . . . . . g.46203
CTACTGGCCGAGGTGGTGGAGTCCGGGAGTCCTGCAGAGTCCTTGCTGCTGGCCCTCCTG c.1680
L L A E V V E S G S P A E S L L L A L L p.560
. . . . . . g.46263
GATGAGCACCAGGTAGAGGCCGACCTGACATTCTTTAACACGCTGGTGAGAAAGAAGAGC c.1740
D E H Q V E A D L T F F N T L V R K K S p.580
. . . . . . g.46323
AAGCTGGGAGACCTGGAGGGGGCCAAGGCGCTGTTGCCGGTCCTGGCAAAGAGGGGCCTC c.1800
K L G D L E G A K A L L P V L A K R G L p.600
. . . . . . g.46383
GTCCCCAACCTGCAGACATTCTGCAACCTGGCCATCGGGTGCCACAGGCCGAAGGACGGT c.1860
V P N L Q T F C N L A I G C H R P K D G p.620
. . | 08 . . . . g.47280
CTACAGCTTCTCACAGACATGAAG | AAGTCCCAGGTGACCCCCAACACTCACATCTACAGT c.1920
L Q L L T D M K | K S Q V T P N T H I Y S p.640
. . . . . . g.47340
GCCCTCATCAACGCGGCCATCAGGAAGCTGAACTACACCTATCTCATCAGCATCTTGAAG c.1980
A L I N A A I R K L N Y T Y L I S I L K p.660
. . . . . . g.47400
GACATGAAGCAGAACAGGGTCCCGGTGAACGAAGTGGTCATCCGCCAGCTGGAGTTTGCA c.2040
D M K Q N R V P V N E V V I R Q L E F A p.680
. . | 09. . . . g.51085
GCCCAGTACCCTCCCACCTTTGACCGG | TACCAAGGGAAGAACACCTACCTGGAGAAGATT c.2100
A Q Y P P T F D R | Y Q G K N T Y L E K I p.700
. . . . . . g.51145
GACGGCTTCCGAGCCTATTACAAGCAGTGGCTGACAGTGATGCCCGCAGAGGAAACCCCG c.2160
D G F R A Y Y K Q W L T V M P A E E T P p.720
. . . . . . g.51205
CACCCCTGGCAGAAGTTCCGGACCAAGCCCCAGGGGGACCAGGACACCGGCAAGGAGGCT c.2220
H P W Q K F R T K P Q G D Q D T G K E A p.740
. . . g.51235
GATGACGGATGTGCCCTTGGGGGCAGGTGA c.2250
D D G C A L G G R X p.749
. . . . . . g.51295
tgggagcacagctggaacaatgtgctcggcccccagtgctctgtgggagccccaggacaa c.*60
. . . . . . g.51355
gtgagctggtgtcacctcctgcctgggggaagagccaggccctgaggaacagccgcagcg c.*120
. . . . . . g.51415
tgtcacaggtgttggtgaggacacacactaggcccaaggtgcctgtgctcccagcaggtc c.*180
. . . . . . g.51475
caagtgcagctccagccacctttgcgtgtcaccttcacgggacttccagctccagctacc c.*240
. . . . . . g.51535
tttgtgtgtcacctcacacaccacaagggggctggggcatctggtccctggggcctgggc c.*300
. . . . . . g.51595
cgccccgccgggttccataggccgatgctctgaaagaagagacgtggggctcgagagatt c.*360
. . . . . . g.51655
taaagattttatttttacaaatcacagctgatagacagcgaagccttccccatagagacc c.*420
. . . . . . g.51715
gtgctccaactcgggcctggggcactgctcgctgctcccaggaagggggtggcgtgacag c.*480
. . . . . . g.51775
gcaggaacctgcgaagtccagagtccagggtggagcgcgccagcctcagccagagcagcc c.*540
. . . . . . g.51835
acgacagccacagtgtgtgcactcgatgatgcggccctgcaacggaggaggacagtgaga c.*600
. . . . . . g.51895
cgatgccactgcgccacgctcgcccctgcacactcacatatgtggcaaccctcccacgaa c.*660
. . . . . . g.51955
ggacctgccaccatgccatatagggacacacctcagaaacccttccttgacagctctgga c.*720
. . . . . . g.52015
cagggaaaatttggctccctcatgaaggtagaaccagctgctgttgacaccgaggttaca c.*780
. . . . . . g.52075
tctgtatgtctatttataatatgttctgcaaatccaacacacgtttgccaatcaagaaaa c.*840
. . . . . . g.52135
agaaatcggtgtgaatgagtctcgttattctgctaagtgagcatgacagaccctgcgatg c.*900
. . . . . . g.52195
agcagacgtggctctgctactgtttggggacttcaggggggcctctgggctggtacactc c.*960
. . . . . . g.52255
tggtgggggaagagggcaggagactatgcacttgagtcacacccttctggcccagagccc c.*1020
. . . . . . g.52315
cccagaaagaagggtcttgtcccccaggcctggtgcggcccaacacttggccagccagaa c.*1080
. . . . . . g.52375
agccctagaacagtggcttgtgtttattttactttttcaagttctttttttggaagaaca c.*1140
. . . . . . g.52435
agaccatagtttaagtaaacaggatcctctggtgaaacccaggtaagtctacagcgggct c.*1200
. . . . . . g.52495
gttttggccacagggctgaagcagcaccccagcccaccagcccctgacctggactccttg c.*1260
. . . . . . g.52555
tggaatctgggcactcagaggaagggggcttctgccactctgccacctgtccctgcctcc c.*1320
. . . . . . g.52615
atcagaaaaccaacaccccagtcttccgtcggggaggcggcccttgctcgcccccactgc c.*1380
. . . . . . g.52675
tcagtacccaagtcctcagcatccagccacagctctccattgtcagtctcactgcagcat c.*1440
. . . . . . g.52735
aaaggggactcatgtgaagaggcccctgtgtggagctggggaaaagaaggccaggctggc c.*1500
. . . . . . g.52795
agatgggcggtggggccaacaactgtgctgaggggctgcactgagcggccactgctgtga c.*1560
. . . . . . g.52855
ctctgcctcgggccacagctgcctttcagaggggcttggaaccggatggagctcagctcc c.*1620
. . . . . . g.52915
tgtccctcagcaccactcctgaggcgcctggcctaggagtggtacttggaacagaaagtt c.*1680
. . . . . . g.52975
ctgaaagaagaaacacagtgggctgggcgcagtagctcatgcctgtaatcccggcacttt c.*1740
. . . . . . g.53035
gggaggctgaggcgggtggatcacctgaggtcgggagttcgagaccagcctgagcaacat c.*1800
. . . . . . g.53095
tgagaaaccccgtctctactaaaaatacaaaattagccaggcgtggtggtgcatgcctgt c.*1860
. . . . . . g.53155
agtcccagctactcaggaggatgaggcaggagaaccgcttgaacccgggaggtggaggtt c.*1920
. . . . . . g.53215
gcagtgagccaagatggcatcactgcactccagcctgggcgacaaagcaagactccgtct c.*1980
. . . . . . g.53275
tgggggggcgggaaagatagtgatggtaatgttaaagtatcactgtgaggactgaaaggg c.*2040
. . . . . . g.53335
acaggaactcactggttgtccttccctgatgtcaccctgccaccaccttgggattagggc c.*2100
. . . . . . g.53395
tccccaccaccatttcctaagtgaggaaaggggttcagtaatttgcccaaaagtggagtt c.*2160
. . . . . . g.53455
gagattgaccccagacctaacaaacacacagccacacgctgcctcacatggattcctgaa c.*2220
. . . . . . g.53515
tacagggacccactcccacgagggagagccagcaggacatccagggacaaaacgacattc c.*2280
. . . . . . g.53575
cagcccaaccaaataacataagatcccttgcagtcgactaaggcagaattttgagctgaa c.*2340
. . . . . . g.53635
aacaacaccaagcttgagtgtcagacattaccacttccagcttgcttttgggcacgcggc c.*2400
. . . . . . g.53695
agatgcagttcgtcccgaagttggtgtcccgtgtctgaatgcaccgcaggcagcacaagt c.*2460
. . . . . . g.53755
tctcatatccttgctttttccattttgcaatcaggtttttgtctgcatagccttctttaa c.*2520
. . . . . . g.53815
tacaatattcatagagttctgtcaaaaagatggggaaagagcatcaggccatggtctaaa c.*2580
. . . . . . g.53875
aaccttccccacccttgatcaaaaaaagcattcaggccgggtgcagtggctcacacctgt c.*2640
. . . . . . g.53935
aatcccagcactttgggaggccgaggcaggcggatcacctgaggtcaggagttcaggacc c.*2700
. . . . . . g.53995
agcccggccaacatggtaaaaccccgtctctactaaaaatacaaaaattactcgggcgtg c.*2760
. . . . . . g.54055
gtagcagctgtaatcccagctacttaggaggctgaggcaggagaatcacttgaacccagg c.*2820
. . . . . . g.54115
aggcggaggttgtagtgacctgaggtcgtgccactggactccagcctgggtgacagcgaa c.*2880
. . . . . . g.54175
actccatctcaaaaaaaaaaaggcattcagtattgcaacgggacagtccttggaggagga c.*2940
. . . . . . g.54235
acaaaaaaaaaaagtacttaggccaggcaaggtgcctcacacctgtaatcccagcacttt c.*3000
. . . . . . g.54295
tggaagccaacgccagaggatcatttgagttaagaaaccagcctgggccaagggcccatc c.*3060
. . . . . . g.54355
tccacaaaaaatttaaaaattagctgggtgtggtggtgcacacctgtagtcacagctact c.*3120
. . . . . . g.54415
caggaggttgaggtgagaggatcccttgagcccagaaggttgaggctgcagtgagccatc c.*3180
. . . . g.54463
attgcaccactgcactccagcctgtggaacagagcaagaccctgtttc c.*3228
(downstream sequence)
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