(used for variant description)
(last modified May 24, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_016529.4 in the ATP8A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering ATP8A2 transcript NM_016529.4.
(upstream sequence)
. . g.5022
acaggcgccggcggtccccgcc c.-121
. . . . . . g.5082
agctagcagcccggcgaggcgctggcccacccatggtcctcgggcggcggcccctgcgcc c.-61
. . . . . . g.5142
cagccctgcgcgtagcctccgtctctcgcccggggccgccgagcccccgacacgggcgag c.-1
. . . . . . g.5202
ATGCTGAACGGCGCAGGCCTGGACAAAGCTCTTAAGATGTCCCTGCCGCGGAGGTCGAGG c.60
M L N G A G L D K A L K M S L P R R S R p.20
. | 02 . . . . . g.101950
ATCCGCTCGTCCGTGG | GACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAG c.120
I R S S V G | P V R S S L G Y K K A E D E p.40
. . . . . . g.102010
ATGTCCCGGGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGCCCGCACCATTTACCTC c.180
M S R A T S V G D Q L E A P A R T I Y L p.60
. . . . | 03 . . g.162947
AACCAACCGCATCTCAACAAATTCCGCGACAACCAGATCAG | TACGGCCAAGTACAGCGTG c.240
N Q P H L N K F R D N Q I S | T A K Y S V p.80
. . . . . . g.163007
TTGACATTTCTACCTCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTT c.300
L T F L P R F L Y E Q I R R A A N A F F p.100
. . | 04 . . . . g.163530
CTCTTCATTGCCTTATTACAG | CAAATTCCAGATGTATCTCCAACAGGAAGATATACCACC c.360
L F I A L L Q | Q I P D V S P T G R Y T T p.120
. . . . . . g.163590
CTGGTGCCATTGATCATTATTTTAACAATTGCAGGCATCAAAGAGATTGTAGAAGATTTT c.420
L V P L I I I L T I A G I K E I V E D F p.140
| 05 . . . . | 06 . . g.166216
| AAGCGACACAAGGCAGACAATGCAGTTAACAAAAAGAAAACAATAG | TGTTAAGAAATGGT c.480
| K R H K A D N A V N K K K T I V | L R N G p.160
. . | 07. . . . g.170950
ATGTGGCATACCATTATGTGGAAAGAG | GTGGCAGTGGGAGACATTGTGAAGGTCGTCAAT c.540
M W H T I M W K E | V A V G D I V K V V N p.180
. . . . | 08 . . g.173267
GGGCAGTATCTTCCAGCAGATGTGGTCCTGCTGTCATCCAG | TGAACCTCAGGCAATGTGT c.600
G Q Y L P A D V V L L S S S | E P Q A M C p.200
. . . . . | 09 . g.174857
TATGTTGAAACAGCTAATCTGGATGGGGAGACGAACCTTAAAATACGTCAG | GGTTTGAGT c.660
Y V E T A N L D G E T N L K I R Q | G L S p.220
. . . . . . g.174917
CACACTGCTGACATGCAAACACGTGAAGTTCTGATGAAGTTATCTGGAACTATAGAGTGT c.720
H T A D M Q T R E V L M K L S G T I E C p.240
. . . . . | 10 g.176221
GAAGGGCCCAACCGCCACCTCTATGACTTCACTGGAAACTTGAACTTAGATGGGAAAAG | C c.780
E G P N R H L Y D F T G N L N L D G K S | p.260
. . . . . . g.176281
CTTGTTGCCCTTGGGCCTGACCAGATCTTATTAAGAGGTACACAGCTTAGAAATACTCAG c.840
L V A L G P D Q I L L R G T Q L R N T Q p.280
. . . . . | 11 . g.184276
TGGGTCTTTGGCATAGTTGTTTATACTGGACACGACACCAAACTCATGCAG | AATTCAACC c.900
W V F G I V V Y T G H D T K L M Q | N S T p.300
. . . . . . g.184336
AAAGCGCCTCTCAAGAGATCAAATGTTGAGAAGGTGACTAACGTGCAGATCCTGGTGTTG c.960
K A P L K R S N V E K V T N V Q I L V L p.320
. . . . . . g.184396
TTTGGCATCCTCTTGGTCATGGCCTTGGTGAGCTCGGCGGGGGCCCTGTACTGGAACAGG c.1020
F G I L L V M A L V S S A G A L Y W N R p.340
. . . | 12. . . g.186745
TCTCATGGTGAAAAGAACTGGTACATCAAGAAGATGG | ACACCACCTCAGATAATTTTGGA c.1080
S H G E K N W Y I K K M D | T T S D N F G p.360
. . . . . . g.186805
TACAACCTACTGACGTTCATCATCTTATACAACAATCTTATTCCCATCAGTCTGTTGGTG c.1140
Y N L L T F I I L Y N N L I P I S L L V p.380
. . . . | 13 . . g.187935
ACTCTTGAGGTTGTGAAGTATACTCAAGCCCTTTTCATAAACTGG | GACACAGATATGTAT c.1200
T L E V V K Y T Q A L F I N W | D T D M Y p.400
. . . . . . g.187995
TATATAGGAAATGACACTCCTGCCATGGCCAGGACATCAAACCTTAATGAAGAGCTTGGG c.1260
Y I G N D T P A M A R T S N L N E E L G p.420
| 14 . . . . . . g.191959
CAG | GTGAAATATCTCTTTTCTGACAAGACTGGAACGCTTACATGCAATATCATGAACTTT c.1320
Q | V K Y L F S D K T G T L T C N I M N F p.440
. . . | 15 . . . g.192678
AAGAAGTGCAGCATTGCCGGAGTAACCTATGG | TCACTTCCCAGAATTGGCAAGAGAGCCG c.1380
K K C S I A G V T Y G | H F P E L A R E P p.460
. | 16. . . . . g.196928
TCTTCAGATGACTTCTG | TCGGATGCCTCCTCCCTGTAGTGATTCCTGTGACTTTGATGAC c.1440
S S D D F C | R M P P P C S D S C D F D D p.480
. . . | 17 . . . g.203723
CCCAGGCTGTTGAAGAACATTGAGGATCGCCAT | CCCACAGCCCCTTGCATTCAGGAGTTC c.1500
P R L L K N I E D R H | P T A P C I Q E F p.500
. . . . . . g.203783
CTCACCCTTCTGGCCGTGTGCCACACGGTTGTTCCTGAGAAGGATGGAGATAACATCATC c.1560
L T L L A V C H T V V P E K D G D N I I p.520
. | 18 . . . . g.204580
TACCAGGCCTCTTCCCCAG | ATGAAGCTGCTTTGGTGAAAGGAGCTAAAAAGCTGGGCTTT c.1620
Y Q A S S P D | E A A L V K G A K K L G F p.540
. . . . | 19 . . g.207755
GTCTTCACAGCCAGAACACCATTCTCAGTCATCATAGAAGCG | ATGGGACAGGAACAAACA c.1680
V F T A R T P F S V I I E A | M G Q E Q T p.560
. . . | 20 . . . g.210026
TTCGGAATCCTTAATGTCCTGGAATTTTCTAG | TGACAGAAAAAGAATGTCTGTAATTGTT c.1740
F G I L N V L E F S S | D R K R M S V I V p.580
. . . . | 21 . . g.211762
CGAACTCCTTCAGGACGACTTCGGCTTTACTGTAAAGGGGCT | GATAATGTGATTTTTGAG c.1800
R T P S G R L R L Y C K G A | D N V I F E p.600
. . . . . . g.211822
AGACTTTCAAAAGACTCAAAATATATGGAGGAAACATTATGCCATCTGGAATACTTTGCC c.1860
R L S K D S K Y M E E T L C H L E Y F A p.620
| 22. . . . . . g.212790
ACGGAAG | GCTTGCGGACTCTCTGTGTGGCTTATGCTGATCTCTCTGAGAATGAGTATGAG c.1920
T E G | L R T L C V A Y A D L S E N E Y E p.640
. . . . . . g.212850
GAGTGGCTGAAAGTCTATCAGGAAGCCAGCACCATATTGAAGGACAGAGCTCAACGGTTG c.1980
E W L K V Y Q E A S T I L K D R A Q R L p.660
. . | 23. . . . g.214781
GAAGAGTGTTACGAGATCATTGAGAAG | AATTTGCTGCTACTTGGAGCCACAGCCATAGAA c.2040
E E C Y E I I E K | N L L L L G A T A I E p.680
. . . . . . g.214841
GATCGCCTTCAAGCAGGAGTTCCAGAAACCATCGCAACACTGTTGAAGGCAGAAATTAAA c.2100
D R L Q A G V P E T I A T L L K A E I K p.700
. . . . | 24 . . g.222578
ATATGGGTGTTGACAGGAGACAAACAAGAAACTGCGATTAATATAG | GGTATTCCTGCCGA c.2160
I W V L T G D K Q E T A I N I G | Y S C R p.720
. . . . . | 25 . g.332111
TTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGAGGACTCTTTGGAT | GCCACAAGG c.2220
L V S Q N M A L I L L K E D S L D | A T R p.740
. . . . . . g.332171
GCAGCCATTACTCAGCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTG c.2280
A A I T Q H C T D L G N L L G K E N D V p.760
. . . . . . g.332231
GCCCTGATCATCGATGGCCACACCCTGAAGTACGCGCTCTCCTTCGAAGTCCGGAGGAGT c.2340
A L I I D G H T L K Y A L S F E V R R S p.780
. . . . | 26 . . g.401991
TTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATGCTGCAG | AGTGTCTCCTCTGCAG c.2400
F L D L A L S C K A V I C C R | V S P L Q p.800
. . . . . . g.402051
AAGTCTGAGATAGTGGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGA c.2460
K S E I V D V V K K R V K A I T L A I G p.820
. . . . . . g.402111
GACGGCGCCAACGATGTCGGGATGATCCAGACAGCCCACGTGGGTGTGGGAATCAGTGGG c.2520
D G A N D V G M I Q T A H V G V G I S G p.840
. . . . | 27 . g.407790
AATGAAGGCATGCAGGCCACCAACAACTCGGATTACGCCATCGCACAG | TTTTCCTACTTA c.2580
N E G M Q A T N N S D Y A I A Q | F S Y L p.860
. . . . . . g.407850
GAGAAGCTTCTGTTGGTTCATGGAGCCTGGAGCTACAACCGGGTGACCAAGTGCATCTTG c.2640
E K L L L V H G A W S Y N R V T K C I L p.880
. . . | 28 . . g.461068
TACTGCTTCTATAAGAACGTGGTCCTGTATATTATTGAG | CTTTGGTTCGCCTTTGTTAAT c.2700
Y C F Y K N V V L Y I I E | L W F A F V N p.900
. . . . . | 29 . g.470098
GGATTTTCTGGGCAGATTTTATTTGAACGTTGGTGCATCGGCCTGTACAATGTG | ATTTTC c.2760
G F S G Q I L F E R W C I G L Y N V | I F p.920
. . . . . . g.470158
ACCGCTTTGCCGCCCTTCACTCTGGGAATCTTTGAGAGGTCTTGCACTCAGGAGAGCATG c.2820
T A L P P F T L G I F E R S C T Q E S M p.940
. . . . . | 30. g.472478
CTCAGGTTTCCCCAGCTCTACAAAATCACCCAGAATGGCGAAGGCTTCAACACAAAG | GTT c.2880
L R F P Q L Y K I T Q N G E G F N T K | V p.960
. . . . . . g.472538
TTCTGGGGTCACTGCATCAACGCCTTGGTCCACTCCCTCATCCTCTTCTGGTTTCCCATG c.2940
F W G H C I N A L V H S L I L F W F P M p.980
. | 31 . . . . . g.493168
AAAGCTCTGGAGCATG | ATACTGTGTTGACAAGTGGTCATGCTACCGACTATTTATTTGTT c.3000
K A L E H D | T V L T S G H A T D Y L F V p.1000
. | 32 . . . . g.493775
GGAAATATTGTTTACACA | TATGTTGTTGTTACTGTTTGTCTGAAAGCTGGTTTGGAGACC c.3060
G N I V Y T | Y V V V T V C L K A G L E T p.1020
. | 33 . . . . . g.495275
ACAGCTTGGACTAAA | TTCAGTCATCTGGCTGTCTGGGGAAGCATGCTGACCTGGCTGGTG c.3120
T A W T K | F S H L A V W G S M L T W L V p.1040
. . . . . . g.495335
TTTTTTGGCATCTACTCGACCATCTGGCCCACCATTCCCATTGCTCCAGATATGAGAGGA c.3180
F F G I Y S T I W P T I P I A P D M R G p.1060
| 34 . . . . . . g.594561
CAG | GCAACTATGGTCCTGAGCTCCGCACACTTCTGGTTGGGATTATTTCTGGTTCCTACT c.3240
Q | A T M V L S S A H F W L G L F L V P T p.1080
. . . | 35 . . . g.601532
GCCTGTTTGATTGAAGATGTGGCATGGAGAGC | AGCCAAGCACACCTGCAAAAAGACATTG c.3300
A C L I E D V A W R A | A K H T C K K T L p.1100
. . . . . . g.601592
CTGGAGGAGGTGCAGGAGCTGGAAACCAAGTCTCGAGTCCTGGGAAAAGCGGTGCTGCGG c.3360
L E E V Q E L E T K S R V L G K A V L R p.1120
. | 36. . . . . g.645503
GATAGCAATGGAAAGAG | GCTGAACGAGCGCGACCGCCTGATCAAGAGGCTGGGCCGGAAG c.3420
D S N G K R | L N E R D R L I K R L G R K p.1140
. . . . | 37 . g.652828
ACGCCCCCGACGCTGTTCCGGGGCAGCTCCCTGCAGCAGGGCGTCCCGC | ATGGGTATGCT c.3480
T P P T L F R G S S L Q Q G V P H | G Y A p.1160
. . . . . . g.652888
TTTTCTCAAGAAGAACACGGAGCTGTTAGTCAGGAAGAAGTCATCCGTGCTTATGACACC c.3540
F S Q E E H G A V S Q E E V I R A Y D T p.1180
. . g.652915
ACCAAAAAGAAATCCAGGAAGAAATAA c.3567
T K K K S R K K X p.1188
. . . . . . g.652975
gacatgaattttcctgactgatcttaggaaagagattcagtttgttgcacccagtgttaa c.*60
. . . . . . g.653035
cacatctttgtcagagaagactggcgtcagcagccaaaacaccaggaaacacatttctgt c.*120
. . . . . . g.653095
ggccttagccaagcagtttgttagttacatattccctcgcaaacctggagtgcagaccac c.*180
. . . . . . g.653155
aggggaagctatctttgccctcccaactcgtctgcagtgcttagcctaacttttgtttat c.*240
. . . . . . g.653215
gtcgttatgaagcattcaactgtgctctgtgaggtgtgaaattaaaaacattatgtttca c.*300
. . . . . . g.653275
ccaatatttaaacatcagtactagttgtcctgggagaaagggaaaggagttttatgttgc c.*360
. . . . . . g.653335
gtgagaggcccatcctgtgtaattggagcagggcacacttgcttcctgttgagttaactc c.*420
. . . . . . g.653395
agaggttaagtccaacgggccacatgcagacttcactgtaggcaggttgctctcctgctt c.*480
. . . . . . g.653455
tgattcctgttttgtgtgtaaaattggcataaacttcttgattgcagtgaaatcacaaaa c.*540
. . . . . . g.653515
ttctctatcggggtggtcaacctgagaacatttatttgaacctcttagccacatttccag c.*600
. . . . . . g.653575
cagggcaaaccaactgatgccctggaagagtcttccgcaccctctccaggtgcactcggc c.*660
. . . . . . g.653635
ccagtcctgccgccgtgtccaggcgcccctcacccccacacctgctgcatggctggccac c.*720
. . . . . . g.653695
accactcagtgcatggcggccgatgggcagccaacccaaacccgcgcctttccttgttcc c.*780
. . . . . . g.653755
actgcagactcagatacagatgcgaaaaattccttcttccaccgcccttctcgttctgta c.*840
. . . . . . g.653815
aagaaagaaaagaaacatagcctttctgcatatattctaaacgtctctctgcctctgtct c.*900
. . . . . . g.653875
gacatggggccaccccacaggtcagagtggtggtagaaccccttcaggactcccagccgt c.*960
. . . . . . g.653935
ggtcaggctctgaatactcccttcccaacatccagactgctgggcctttggcatccactt c.*1020
. . . . . . g.653995
acattagaacccacgtttgtttcagagcacattttggactttcactgttgggaaatgaat c.*1080
. . . . . . g.654055
gaatttataacatgcctgcacagcgaaggaacacacctgtcgctcttagctctagagtca c.*1140
. . . . . . g.654115
gaggatgagtaaacccagatgcaagagtataggacattgagtggggagaacaagacgacc c.*1200
. . . . . . g.654175
acagaagtcctcagaaggagaaggaaggacacggagacactgagaggaggacacagagga c.*1260
. . . g.654212
atcgccaccagatctttgcagtagaaactctgaaata c.*1297
(downstream sequence)
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