(used for variant description)
(last modified June 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000053.3 in the ATP7B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008806.1, covering ATP7B transcript NM_000053.3.
(upstream sequence)
. . . g.5037
ttcccggacccctgtttgctttagagccgagccgcgc c.-121
. . . . . . g.5097
cgatgccctcacactctgcgcctcctctcccgggactttaacaccccgctctcctccacc c.-61
. . . . . . g.5157
gaccaggtgaccttttgctctgagccagatcagagaagaattcggtgtccgtgcgggacg c.-1
. . . . . | 02 . g.41335
ATGCCTGAGCAGGAGAGACAGATCACAGCCAGAGAAGGGGCCAGTCGGAAA | ATCTTATCT c.60
M P E Q E R Q I T A R E G A S R K | I L S p.20
. . . . . . g.41395
AAGCTTTCTTTGCCTACCCGTGCCTGGGAACCAGCAATGAAGAAGAGTTTTGCTTTTGAC c.120
K L S L P T R A W E P A M K K S F A F D p.40
. . . . . . g.41455
AATGTTGGCTATGAAGGTGGTCTGGATGGCCTGGGCCCTTCTTCTCAGGTGGCCACCAGC c.180
N V G Y E G G L D G L G P S S Q V A T S p.60
. . . . . . g.41515
ACAGTCAGGATCTTGGGCATGACTTGCCAGTCATGTGTGAAGTCCATTGAGGACAGGATT c.240
T V R I L G M T C Q S C V K S I E D R I p.80
. . . . . . g.41575
TCCAATTTGAAAGGCATCATCAGCATGAAGGTTTCCCTGGAACAAGGCAGTGCCACTGTG c.300
S N L K G I I S M K V S L E Q G S A T V p.100
. . . . . . g.41635
AAATATGTGCCATCGGTTGTGTGCCTGCAACAGGTTTGCCATCAAATTGGGGACATGGGC c.360
K Y V P S V V C L Q Q V C H Q I G D M G p.120
. . . . . . g.41695
TTCGAGGCCAGCATTGCAGAAGGAAAGGCAGCCTCCTGGCCCTCAAGGTCCTTGCCTGCC c.420
F E A S I A E G K A A S W P S R S L P A p.140
. . . . . . g.41755
CAGGAGGCTGTGGTCAAGCTCCGGGTGGAGGGCATGACCTGCCAGTCCTGTGTCAGCTCC c.480
Q E A V V K L R V E G M T C Q S C V S S p.160
. . . . . . g.41815
ATTGAAGGCAAGGTCCGGAAACTGCAAGGAGTAGTGAGAGTCAAAGTCTCACTCAGCAAC c.540
I E G K V R K L Q G V V R V K V S L S N p.180
. . . . . . g.41875
CAAGAGGCCGTCATCACTTATCAGCCTTATCTCATTCAGCCCGAAGACCTCAGGGACCAT c.600
Q E A V I T Y Q P Y L I Q P E D L R D H p.200
. . . . . . g.41935
GTAAATGACATGGGATTTGAAGCTGCCATCAAGAGCAAAGTGGCTCCCTTAAGCCTGGGA c.660
V N D M G F E A A I K S K V A P L S L G p.220
. . . . . . g.41995
CCAATTGATATTGAGCGGTTACAAAGCACTAACCCAAAGAGACCTTTATCTTCTGCTAAC c.720
P I D I E R L Q S T N P K R P L S S A N p.240
. . . . . . g.42055
CAGAATTTTAATAATTCTGAGACCTTGGGGCACCAAGGAAGCCATGTGGTCACCCTCCAA c.780
Q N F N N S E T L G H Q G S H V V T L Q p.260
. . . . . . g.42115
CTGAGAATAGATGGAATGCATTGTAAGTCTTGCGTCTTGAATATTGAAGAAAATATTGGC c.840
L R I D G M H C K S C V L N I E E N I G p.280
. . . . . . g.42175
CAGCTCCTAGGGGTTCAAAGTATTCAAGTGTCCTTGGAGAACAAAACTGCCCAAGTAAAG c.900
Q L L G V Q S I Q V S L E N K T A Q V K p.300
. . . . . . g.42235
TATGACCCTTCTTGTACCAGCCCAGTGGCTCTGCAGAGGGCTATCGAGGCACTTCCACCT c.960
Y D P S C T S P V A L Q R A I E A L P P p.320
. . . . . . g.42295
GGGAATTTTAAAGTTTCTCTTCCTGATGGAGCCGAAGGGAGTGGGACAGATCACAGGTCT c.1020
G N F K V S L P D G A E G S G T D H R S p.340
. . . . . . g.42355
TCCAGTTCTCATTCCCCTGGCTCCCCACCGAGAAACCAGGTCCAGGGCACATGCAGTACC c.1080
S S S H S P G S P P R N Q V Q G T C S T p.360
. . . . . . g.42415
ACTCTGATTGCCATTGCCGGCATGACCTGTGCATCCTGTGTCCATTCCATTGAAGGCATG c.1140
T L I A I A G M T C A S C V H S I E G M p.380
. . . . . . g.42475
ATCTCCCAACTGGAAGGGGTGCAGCAAATATCGGTGTCTTTGGCCGAAGGGACTGCAACA c.1200
I S Q L E G V Q Q I S V S L A E G T A T p.400
. . . . . . g.42535
GTTCTTTATAATCCCTCTGTAATTAGCCCAGAAGAACTCAGAGCTGCTATAGAAGACATG c.1260
V L Y N P S V I S P E E L R A A I E D M p.420
. . | 03 . . . . g.45780
GGATTTGAGGCTTCAGTCGTTTCTG | AAAGCTGTTCTACTAACCCTCTTGGAAACCACAGT c.1320
G F E A S V V S E | S C S T N P L G N H S p.440
. . . . . . g.45840
GCTGGGAATTCCATGGTGCAAACTACAGATGGTACACCTACATCTGTGCAGGAAGTGGCT c.1380
A G N S M V Q T T D G T P T S V Q E V A p.460
. . . . . . g.45900
CCCCACACTGGGAGGCTCCCTGCAAACCATGCCCCGGACATCTTGGCAAAGTCCCCACAA c.1440
P H T G R L P A N H A P D I L A K S P Q p.480
. . . . . . g.45960
TCAACCAGAGCAGTGGCACCGCAGAAGTGCTTCTTACAGATCAAAGGCATGACCTGTGCA c.1500
S T R A V A P Q K C F L Q I K G M T C A p.500
. . . . | 04 . . g.47904
TCCTGTGTGTCTAACATAGAAAGGAATCTGCAGAAAGAAGCTG | GTGTTCTCTCCGTGTTG c.1560
S C V S N I E R N L Q K E A G | V L S V L p.520
. . . . . . g.47964
GTTGCCTTGATGGCAGGAAAGGCAGAGATCAAGTATGACCCAGAGGTCATCCAGCCCCTC c.1620
V A L M A G K A E I K Y D P E V I Q P L p.540
. . . . . . g.48024
GAGATAGCTCAGTTCATCCAGGACCTGGGTTTTGAGGCAGCAGTCATGGAGGACTACGCA c.1680
E I A Q F I Q D L G F E A A V M E D Y A p.560
. . | 05. . . . g.51494
GGCTCCGATGGCAACATTGAGCTGACA | ATCACAGGGATGACCTGCGCGTCCTGTGTCCAC c.1740
G S D G N I E L T | I T G M T C A S C V H p.580
. . . . . . g.51554
AACATAGAGTCCAAACTCACGAGGACAAATGGCATCACTTATGCCTCCGTTGCCCTTGCC c.1800
N I E S K L T R T N G I T Y A S V A L A p.600
. . . . . . g.51614
ACCAGCAAAGCCCTTGTTAAGTTTGACCCGGAAATTATCGGTCCACGGGATATTATCAAA c.1860
T S K A L V K F D P E I I G P R D I I K p.620
| 06 . . . . . g.54632
ATTATTGAG | GAAATTGGCTTTCATGCTTCCCTGGCCCAGAGAAACCCCAACGCTCATCAC c.1920
I I E | E I G F H A S L A Q R N P N A H H p.640
. . | 07 . . . . g.56206
TTGGACCACAAGATGGAAATAAAGCA | GTGGAAGAAGTCTTTCCTGTGCAGCCTGGTGTTT c.1980
L D H K M E I K Q | W K K S F L C S L V F p.660
. . . . . . g.56266
GGCATCCCTGTCATGGCCTTAATGATCTATATGCTGATACCCAGCAACGAGCCCCACCAG c.2040
G I P V M A L M I Y M L I P S N E P H Q p.680
. . . . . . g.56326
TCCATGGTCCTGGACCACAACATCATTCCAGGACTGTCCATTCTAAATCTCATCTTCTTT c.2100
S M V L D H N I I P G L S I L N L I F F p.700
. . | 08 . . . . g.57989
ATCTTGTGTACCTTTGTCCAG | CTCCTCGGTGGGTGGTACTTCTACGTTCAGGCCTACAAA c.2160
I L C T F V Q | L L G G W Y F Y V Q A Y K p.720
. . . . . . g.58049
TCTCTGAGACACAGGTCAGCCAACATGGACGTGCTCATCGTCCTGGCCACAAGCATTGCT c.2220
S L R H R S A N M D V L I V L A T S I A p.740
. . . . . . g.58109
TATGTTTATTCTCTGGTCATCCTGGTGGTTGCTGTGGCTGAGAAGGCGGAGAGGAGCCCT c.2280
Y V Y S L V I L V V A V A E K A E R S P p.760
. . . . . . g.58169
GTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTG c.2340
V T F F D T P P M L F V F I A L G R W L p.780
. | 09 . . . . . g.58932
GAACACTTGGCAAAG | AGCAAAACCTCAGAAGCCCTGGCTAAACTCATGTCTCTCCAAGCC c.2400
E H L A K | S K T S E A L A K L M S L Q A p.800
. . . . | 10. . g.66108
ACAGAAGCCACCGTTGTGACCCTTGGTGAGGACAATTTAATCATCAG | GGAGGAGCAAGTC c.2460
T E A T V V T L G E D N L I I R | E E Q V p.820
. . . . . . g.66168
CCCATGGAGCTGGTGCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGTTTCCA c.2520
P M E L V Q R G D I V K V V P G G K F P p.840
. . . . . | 11 . g.66338
GTGGATGGGAAAGTCCTGGAAGGCAATACCATGGCTGATGAGTCCCTCATCACAG | GAGAA c.2580
V D G K V L E G N T M A D E S L I T G | E p.860
. . . . . . g.66398
GCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTATAAATGCACAT c.2640
A M P V T K K P G S T V I A G S I N A H p.880
. . . . . . g.66458
GGCTCTGTGCTCATTAAAGCTACCCACGTGGGCAATGACACCACTTTGGCTCAGATTGTG c.2700
G S V L I K A T H V G N D T T L A Q I V p.900
. . . | 12 . . . g.66728
AAACTGGTGGAAGAGGCTCAGATGTCAAAG | GCACCCATTCAGCAGCTGGCTGACCGGTTT c.2760
K L V E E A Q M S K | A P I Q Q L A D R F p.920
. . . . . . g.66788
AGTGGATATTTTGTCCCATTTATCATCATCATGTCAACTTTGACGTTGGTGGTATGGATT c.2820
S G Y F V P F I I I M S T L T L V V W I p.940
. . . . | 13 . . g.70031
GTAATCGGTTTTATCGATTTTGGTGTTGTTCAGAGATACTTTCCT | AACCCCAACAAGCAC c.2880
V I G F I D F G V V Q R Y F P | N P N K H p.960
. . . . . . g.70091
ATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCATCACGGTGCTGTGC c.2940
I S Q T E V I I R F A F Q T S I T V L C p.980
. . . . . . g.70151
ATTGCCTGCCCCTGCTCCCTGGGGCTGGCCACGCCCACGGCTGTCATGGTGGGCACCGGG c.3000
I A C P C S L G L A T P T A V M V G T G p.1000
. . . . . . g.70211
GTGGCCGCGCAGAACGGCATCCTCATCAAGGGAGGCAAGCCCCTGGAGATGGCGCACAAG c.3060
V A A Q N G I L I K G G K P L E M A H K p.1020
| 14 . . . . . . g.72263
| ATAAAGACTGTGATGTTTGACAAGACTGGCACCATTACCCATGGCGTCCCCAGGGTCATG c.3120
| I K T V M F D K T G T I T H G V P R V M p.1040
. . . . . . g.72323
CGGGTGCTCCTGCTGGGGGATGTGGCCACACTGCCCCTCAGGAAGGTTCTGGCTGTGGTG c.3180
R V L L L G D V A T L P L R K V L A V V p.1060
. . . . . . g.72383
GGGACTGCGGAGGCCAGCAGTGAACACCCCTTGGGCGTGGCAGTCACCAAATACTGTAAA c.3240
G T A E A S S E H P L G V A V T K Y C K p.1080
| 15 . . . . . . g.73997
GAG | GAACTTGGAACAGAGACCTTGGGATACTGCACGGACTTCCAGGCAGTGCCAGGCTGT c.3300
E | E L G T E T L G Y C T D F Q A V P G C p.1100
. . . . . . g.74057
GGAATTGGGTGCAAAGTCAGCAACGTGGAAGGCATCCTGGCCCACAGTGAGCGCCCTTTG c.3360
G I G C K V S N V E G I L A H S E R P L p.1120
. . . . . | 16 . g.75278
AGTGCACCGGCCAGTCACCTGAATGAGGCTGGCAGCCTTCCCGCAGAAAAAG | ATGCAGTC c.3420
S A P A S H L N E A G S L P A E K D | A V p.1140
. . . . . . g.75338
CCCCAGACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGGTTTAACC c.3480
P Q T F S V L I G N R E W L R R N G L T p.1160
. . . . . . g.75398
ATTTCTAGCGATGTCAGTGACGCTATGACAGACCACGAGATGAAAGGACAGACAGCCATC c.3540
I S S D V S D A M T D H E M K G Q T A I p.1180
. | 17 . . . . . g.77345
CTGGTGGCTATTGACG | GTGTGCTCTGTGGGATGATCGCAATCGCAGACGCTGTCAAGCAG c.3600
L V A I D G | V L C G M I A I A D A V K Q p.1200
. . . . . . g.77405
GAGGCTGCCCTGGCTGTGCACACGCTGCAGAGCATGGGTGTGGACGTGGTTCTGATCACG c.3660
E A A L A V H T L Q S M G V D V V L I T p.1220
. . . | 18 . . g.78836
GGGGACAACCGGAAGACAGCCAGAGCTATTGCCACCCAG | GTTGGCATCAACAAAGTCTTT c.3720
G D N R K T A R A I A T Q | V G I N K V F p.1240
. . . . . . g.78896
GCAGAGGTGCTGCCTTCGCACAAGGTGGCCAAGGTCCAGGAGCTCCAGAATAAAGGGAAG c.3780
A E V L P S H K V A K V Q E L Q N K G K p.1260
. . . . . . g.78956
AAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACATG c.3840
K V A M V G D G V N D S P A L A Q A D M p.1280
. . . . . . g.79016
GGTGTGGCCATTGGCACCGGCACGGATGTGGCCATCGAGGCAGCCGACGTCGTCCTTATC c.3900
G V A I G T G T D V A I E A A D V V L I p.1300
| 19 . . . . . . g.79158
AGA | AATGATTTGCTGGATGTGGTGGCTAGCATTCACCTTTCCAAGAGGACTGTCCGAAGG c.3960
R | N D L L D V V A S I H L S K R T V R R p.1320
. . . . . . g.79218
ATACGCATCAACCTGGTCCTGGCACTGATTTATAACCTGGTTGGGATACCCATTGCAGCA c.4020
I R I N L V L A L I Y N L V G I P I A A p.1340
| 20 . . . . . . g.80858
G | GTGTCTTCATGCCCATCGGCATTGTGCTGCAGCCCTGGATGGGCTCAGCGGCCATGGCA c.4080
G | V F M P I G I V L Q P W M G S A A M A p.1360
. . . . | 21 . . g.81481
GCCTCCTCTGTGTCTGTGGTGCTCTCATCCCTGCAGCTCAAGTG | CTATAAGAAGCCTGAC c.4140
A S S V S V V L S S L Q L K C | Y K K P D p.1380
. . . . . . g.81541
CTGGAGAGGTATGAGGCACAGGCGCATGGCCACATGAAGCCCCTGACGGCATCCCAGGTC c.4200
L E R Y E A Q A H G H M K P L T A S Q V p.1400
. . . . . . g.81601
AGTGTGCACATAGGCATGGATGACAGGTGGCGGGACTCCCCCAGGGCCACACCATGGGAC c.4260
S V H I G M D D R W R D S P R A T P W D p.1420
. . . . . . g.81661
CAGGTCAGCTATGTCAGCCAGGTGTCGCTGTCCTCCCTGACGTCCGACAAGCCATCTCGG c.4320
Q V S Y V S Q V S L S S L T S D K P S R p.1440
. . . . . . g.81721
CACAGCGCTGCAGCAGACGATGATGGGGACAAGTGGTCTCTGCTCCTGAATGGCAGGGAT c.4380
H S A A A D D D G D K W S L L L N G R D p.1460
. g.81739
GAGGAGCAGTACATCTGA c.4398
E E Q Y I X p.1465
. . . . . . g.81799
tgacttcaggcaggcgggccggggcagggacttgcctccactcaccacaagctgagcagg c.*60
. . . . . . g.81859
acagccagcagcaggatgggctgagctagcctccagctttggggacttccgctccctgga c.*120
. . . . . . g.81919
tatgtccagtcatcctgccctgcagcacgcggccttgtctgggtgcagctgggcttggcc c.*180
. . . . . . g.81979
tggagaggacggccctgcctgcctcttggcctcacgggaccgtcagcatgggctttgtct c.*240
. . . . . . g.82039
tggactctagtccttggctggactgtagaaggtgagaggcgagtcaccctcctcacagac c.*300
. . . . . . g.82099
ctctgcttggagtatttaggatgactgctgtgaaatggagaacagtttcatcaggaccaa c.*360
. . . . . . g.82159
aaaacctcactgggcctttccagagaactgcagacctcactgtcagggtctttctgatga c.*420
. . . . . . g.82219
cgcctgtctgtgtgcatcatgtttctgagaccacagtttacctcaggtgtgcctgttgct c.*480
. . . . . . g.82279
ttcttcctgcatagtctgttcctttcttcgtacatagtctgttccttttctctcctgtgt c.*540
. . . . . . g.82339
gcttgtcagtggggacccctcgcaaccctgcctgtcacctgggagggtgggaccaatgtc c.*600
. . . . . . g.82399
cttgtggtctttgctgctgctctcaggcgcttctccaatgctctggagtgtgcatttcag c.*660
. . . . . . g.82459
cttgaacctgcttcctggctcacacatccccagccagggagcttgccacactcttcttca c.*720
. . . . . . g.82519
agttgaggagagttcttttttgcttaaagcccccttctccatggagtgttggcttctcaa c.*780
. . . . . . g.82579
tagagtgttgttgctgaccagctggagtgagggcctcagagcctgacctgagagtccgta c.*840
. . . . . . g.82639
ctcggcttcctgtggggtgtaggttctcgcgattcaggacgtccttccatatccctgccc c.*900
. . . . . . g.82699
agcctgtggtgcttgaaacgtttgccccatgggaaacgtatgtgtgcaggagcctccctg c.*960
. . . . . . g.82759
cacggcccaaggggcttcgttttcagtcttctgactgtcacctcgtggggttcagtagag c.*1020
. . . . . . g.82819
aattcatgtgactagcgcctggccttgtgtggcttggaggaaatggtactgcccaaatag c.*1080
. . . . . . g.82879
gaggaaaacacagcctccctgagcctgcattctgcacgctgcccaggggcttcagaaaag c.*1140
. . . . . . g.82939
gagtggccacagcaccccgaagggagcatctgtttacctggcagtggctctcagagcagc c.*1200
. . . . . . g.82999
agaacgggttcagttttagactctgaagttggttgtgattgacagaaccctttgggagca c.*1260
. . . . . . g.83059
aactagtagagttggattaaattctgggtgaaacccttttctcccacacaaaatagtttt c.*1320
. . . . . . g.83119
agtgatttttttcattgtccattacttgccaggggcagttttagcagcacttttgataga c.*1380
. . . . . . g.83179
ttacgtctaatcctcccaaccaaccagcagggtagctattactgtccacattttacaggc c.*1440
. . . . . . g.83239
aaggaaacaggctccaagaggctgaggactttgcccaggatgacatagccaatggacaag c.*1500
. . . . . . g.83299
cagtgtctgtcagctgtgaaggcttcactcttattgtccttctaccttgaatagaagttt c.*1560
. . . . . . g.83359
tcctgataagaataaacgaggaaaaggtccttgcctcctggaagaacaaatctaccaggt c.*1620
. . . . . . g.83419
gatctattcattgtttcaactcagaatgcacttgattcaggaggtcatctgaccttcacc c.*1680
. . . . . . g.83479
ttggatggttagtttcactttttacatatagtttttgcagggttttattttataaaatcc c.*1740
. . . . . . g.83539
aagcgcgctgttgattgtgttttccttgttttcagcccccccactccagcccgcagcaca c.*1800
. . . . . . g.83599
tttccgctgtccgtcagtaattgtgtcctctctttatgcttgcttggggaatgttgtttt c.*1860
. . . . . . g.83659
ctgactaggctgatcattatctaaagaatctaattctgttgatttttaaaacttttagga c.*1920
. . . . . . g.83719
ccataaacgttgtgttcatatatggacatggaaatatttatataattttatagaaaataa c.*1980
. . . . . . g.83779
ccttttagatggtcaaagtgtaaggagtttttttgtcagataatcatttctacttcaaaa c.*2040
. . . . g.83826
acatttcatgcaatattagaataaagttcctgtcattcctctaaaaa c.*2087
(downstream sequence)
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