(used for variant description)
(last modified April 3, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_152296.4 in the ATP1A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008015.1, covering ATP1A3 transcript NM_152296.4.
(upstream sequence)
. . g.4974
tcccgcggacgcgggcatat c.-181
. . . . . . g.5034
gaggaggcggaggcggcggccgccgcagcctctgtgcggtgggaccaacggacggacgga c.-121
. . . . . . g.5094
cggacgcgcgcacctaccgaggcgcgggcgctgcagaggctcccagcccaagcctgagcc c.-61
. . . . . . g.5154
tgagcccgccccgaggtccccgccccgcccgcctggctctctcgccgcggagccgccaag c.-1
| 02 . . . . . . g.10722
ATGGGG | GACAAGAAAGATGACAAGGACTCACCCAAGAAGAACAAGGGCAAGGAGCGCCGG c.60
M G | D K K D D K D S P K K N K G K E R R p.20
. . . | 03 . . . g.10880
GACCTGGATGACCTCAAGAAGGAGGTGGCTATG | ACAGAGCACAAGATGTCAGTGGAAGAG c.120
D L D D L K K E V A M | T E H K M S V E E p.40
. . . | 04 . . . g.11118
GTCTGCCGGAAATACAACACAGACTGTGTGCAG | GGTTTGACCCACAGCAAAGCCCAGGAG c.180
V C R K Y N T D C V Q | G L T H S K A Q E p.60
. . . . . . g.11178
ATCCTGGCCCGGGATGGGCCTAACGCACTCACGCCACCGCCTACCACCCCAGAGTGGGTC c.240
I L A R D G P N A L T P P P T T P E W V p.80
. . . . . . g.11238
AAGTTTTGCCGGCAGCTCTTCGGGGGCTTCTCCATCCTGCTGTGGATCGGGGCTATCCTC c.300
K F C R Q L F G G F S I L L W I G A I L p.100
. . . . . | 05. g.13004
TGCTTCCTGGCCTACGGTATCCAGGCGGGCACCGAGGACGACCCCTCTGGTGACAAC | CTG c.360
C F L A Y G I Q A G T E D D P S G D N | L p.120
. . . . . . g.13064
TACCTGGGCATCGTGCTGGCGGCCGTGGTGATCATCACTGGCTGCTTCTCCTACTACCAG c.420
Y L G I V L A A V V I I T G C F S Y Y Q p.140
. . . . . | 06 . g.13241
GAGGCCAAGAGCTCCAAGATCATGGAGTCCTTCAAGAACATGGTGCCCCAG | CAAGCCCTG c.480
E A K S S K I M E S F K N M V P Q | Q A L p.160
. . . . . . g.13301
GTGATCCGGGAAGGTGAGAAGATGCAGGTGAACGCTGAGGAGGTGGTGGTCGGGGACCTG c.540
V I R E G E K M Q V N A E E V V V G D L p.180
. . . . . . g.13361
GTGGAGATCAAGGGTGGAGACCGAGTGCCAGCTGACCTGCGGATCATCTCAGCCCACGGC c.600
V E I K G G D R V P A D L R I I S A H G p.200
| 07 . . . . . . g.13861
TGCAAG | GTGGACAACTCCTCCCTGACTGGCGAATCCGAGCCCCAGACTCGCTCTCCCGAC c.660
C K | V D N S S L T G E S E P Q T R S P D p.220
. . . . . . g.13921
TGCACTCACGACAACCCCTTGGAGACTCGGAACATCACCTTCTTTTCCACCAACTGTGTG c.720
C T H D N P L E T R N I T F F S T N C V p.240
| 08 . . . . . . g.14100
GAAG | GCACGGCTCGGGGCGTGGTGGTGGCCACGGGCGACCGCACTGTCATGGGCCGTATC c.780
E G | T A R G V V V A T G D R T V M G R I p.260
. . . . . . g.14160
GCCACCCTGGCATCAGGGCTGGAGGTGGGCAAGACGCCCATCGCCATCGAGATTGAGCAC c.840
A T L A S G L E V G K T P I A I E I E H p.280
. . . . . . g.14220
TTCATCCAGCTCATCACCGGCGTGGCTGTCTTCCTGGGTGTCTCCTTCTTCATCCTCTCC c.900
F I Q L I T G V A V F L G V S F F I L S p.300
. . . . . . g.14280
CTCATTCTCGGATACACCTGGCTTGAGGCTGTCATCTTCCTCATCGGCATCATCGTGGCC c.960
L I L G Y T W L E A V I F L I G I I V A p.320
. . . | 09 . . . g.17151
AATGTCCCAGAGGGTCTGCTGGCCACTGTCACT | GTGTGTCTGACGCTGACCGCCAAGCGC c.1020
N V P E G L L A T V T | V C L T L T A K R p.340
. . . . . . g.17211
ATGGCCCGGAAGAACTGCCTGGTGAAGAACCTGGAGGCTGTAGAAACCCTGGGCTCCACG c.1080
M A R K N C L V K N L E A V E T L G S T p.360
. . . . . . g.17271
TCCACCATCTGCTCAGATAAGACAGGGACCCTCACTCAGAACCGCATGACAGTCGCCCAC c.1140
S T I C S D K T G T L T Q N R M T V A H p.380
. . . . . | 10 . g.17407
ATGTGGTTTGACAACCAGATCCACGAGGCTGACACCACTGAGGACCAGTCAG | GGACCTCA c.1200
M W F D N Q I H E A D T T E D Q S G | T S p.400
. . . . . . g.17467
TTTGACAAGAGTTCGCACACCTGGGTGGCCCTGTCTCACATCGCTGGGCTCTGCAATCGC c.1260
F D K S S H T W V A L S H I A G L C N R p.420
. . . . | 11 . . g.17612
GCTGTCTTCAAGGGTGGTCAGGACAACATCCCTGTGCTCAAG | AGGGATGTGGCTGGGGAT c.1320
A V F K G G Q D N I P V L K | R D V A G D p.440
. . . . . . g.17672
GCGTCTGAGTCTGCCCTGCTCAAGTGCATCGAGCTGTCCTCTGGCTCCGTGAAGCTGATG c.1380
A S E S A L L K C I E L S S G S V K L M p.460
. . . . . | 12. g.20435
CGTGAACGCAACAAGAAAGTGGCTGAGATTCCCTTCAATTCCACCAACAAATACCAG | CTC c.1440
R E R N K K V A E I P F N S T N K Y Q | L p.480
. . . . . . g.20495
TCCATCCATGAGACCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCC c.1500
S I H E T E D P N D N R Y L L V M K G A p.500
. . . . . . g.20555
CCCGAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTG c.1560
P E R I L D R C S T I L L Q G K E Q P L p.520
. . . . . . g.20615
GACGAGGAAATGAAGGAGGCCTTCCAGAATGCCTACCTTGAGCTCGGTGGCCTGGGCGAG c.1620
D E E M K E A F Q N A Y L E L G G L G E p.540
. | 13 . . . . . g.20954
CGCGTGCTTG | GTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCC c.1680
R V L G | F C H Y Y L P E E Q F P K G F A p.560
. . . . . . g.21014
TTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCC c.1740
F D C D D V N F T T D N L C F V G L M S p.580
. . . . . . g.21074
ATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGC c.1800
M I D P P R A A V P D A V G K C R S A G p.600
| 14 . . . . . . g.21212
ATCAAG | GTCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGT c.1860
I K | V I M V T G D H P I T A K A I A K G p.620
. . . . . . g.21272
GTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATT c.1920
V G I I S E G N E T V E D I A A R L N I p.640
. . | 15 . . . . g.22701
CCCGTCAGCCAGGTTAACCCCCG | GGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTC c.1980
P V S Q V N P R | D A K A C V I H G T D L p.660
. . . . . . g.22761
AAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTCTTC c.2040
K D F T S E Q I D E I L Q N H T E I V F p.680
. . . . . | 16 . g.23439
GCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAG | GGTGCA c.2100
A R T S P Q Q K L I I V E G C Q R Q | G A p.700
. . . . . . g.23499
ATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATT c.2160
I V A V T G D G V N D S P A L K K A D I p.720
. . . . . . g.23559
GGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTG c.2220
G V A M G I A G S D V S K Q A A D M I L p.740
. . . . | 17 . . g.28705
CTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGG | GCCGCCTGATCTTCGAC c.2280
L D D N F A S I V T G V E E G | R L I F D p.760
. . . . . . g.28765
AACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTC c.2340
N L K K S I A Y T L T S N I P E I T P F p.780
. . . . . . g.28825
CTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATC c.2400
L L F I M A N I P L P L G T I T I L C I p.800
. | 18 . . . . g.28964
GATCTGGGCACTGACATG | GTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGAC c.2460
D L G T D M | V P A I S L A Y E A A E S D p.820
. . . . . . g.29024
ATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATC c.2520
I M K R Q P R N P R T D K L V N E R L I p.840
. . | 19 . . . . g.29688
AGCATGGCCTACGGGCAGATTG | GAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTT c.2580
S M A Y G Q I G | M I Q A L G G F F S Y F p.860
. . . . . . g.29748
GTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGG c.2640
V I L A E N G F L P G N L V G I R L N W p.880
. . . . | 20 . g.30327
GATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGG | ACATACGAGCAG c.2700
D D R T V N D L E D S Y G Q Q W | T Y E Q p.900
. . . . . . g.30387
AGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAG c.2760
R K V V E F T C H T A F F V S I V V V Q p.920
. . . . . | 21 g.31468
TGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAA | G c.2820
W A D L I I C K T R R N S V F Q Q G M K | p.940
. . . . . . g.31528
AACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTAC c.2880
N K I L I F G L F E E T A L A A F L S Y p.960
. . . . | 22 . . g.31909
TGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAA | GCCCAGCTGGTGGTTCTGT c.2940
C P G M D V A L R M Y P L K | P S W W F C p.980
. . . . . . g.31969
GCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGC c.3000
A F P Y S F L I F V Y D E I R K L I L R p.1000
. | 23 . . . g.32312
AGGAACCCAGGGG | GTTGGGTGGAGAAGGAAACCTACTACTGA c.3042
R N P G G | W V E K E T Y Y X p.1013
. . . . . . g.32372
cctcagccccaccacatcgcccatctcttccccgtcccccaggcccaggaccgcccctgt c.*60
. . . . . . g.32432
cagtccccccaattttgtattctggggggaggagccctctcttcctgtggccccaccttg c.*120
. . . . . . g.32492
gcccccaccccctccactatctcctgccgcccccactctggctggcttctctcccctgcc c.*180
. . . . . . g.32552
ccaaacctctctcctctctcttttctgtgtcagtttctctccctctcctcacccctctat c.*240
. . . . . . g.32612
ccattcctcccgccccagccacctccctgggctcttttttactccccttcagccccccgg c.*300
. . . . . g.32667
ctgatgccatctctggttctggacaattatcaaatatatcagtggggagagagaa c.*355
(downstream sequence)
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