(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_022089.2 in the ATP13A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009054.1, covering ATP13A2 transcript NM_022089.2.
(upstream sequence)
. g.5010
agtgtcggag c.-181
. . . . . . g.5070
ccgcgccgagcctggtggcccaggtgccccgcccgcgtcagccctgctccagccccgcgc c.-121
. . . . . . g.5130
tagcccagcgcccctcgccccgggccgtccggaccgcgcccccgcccagggccttgcgca c.-61
. . . . . . g.5190
cgccggggcccaggccgagggccgcagcgccggggccggcgatgagcgcgaggagccggc c.-1
. | 02 . . . . . g.11200
ATGAGCGCAG | ACAGCAGCCCTCTCGTGGGCAGCACGCCCACCGGTTATGGGACCCTGACG c.60
M S A D | S S P L V G S T P T G Y G T L T p.20
. . . . | 03 . . g.11387
ATAGGGACATCAATAGATCCCCTCAGCTCCTCAGTTTCATCCGTG | AGGCTCAGCGGCTAC c.120
I G T S I D P L S S S V S S V | R L S G Y p.40
. . . . . . g.11447
TGTGGCAGTCCATGGAGGGTCATCGGCTATCACGTCGTGGTCTGGATGATGGCTGGGATC c.180
C G S P W R V I G Y H V V V W M M A G I p.60
. . . . . . g.11507
CCTTTGCTGCTCTTCCGTTGGAAGCCCCTGTGGGGGGTGCGGCTGCGGCTCCGGCCCTGC c.240
P L L L F R W K P L W G V R L R L R P C p.80
. . . . | 04 . g.11868
AACCTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAGAG | GATAGTTCCTGG c.300
N L A H A E T L V I E I R D K E | D S S W p.100
. . . . | 05. . g.12120
CAGCTCTTCACTGTCCAGGTGCAGACTGAGGCCATCGGCGAGGGCAG | CCTGGAGCCGTCC c.360
Q L F T V Q V Q T E A I G E G S | L E P S p.120
. . . . . . g.12180
CCACAGTCCCAGGCAGAGGATGGCCGGAGCCAGGCGGCAGTTGGGGCGGTACCAGAGGGT c.420
P Q S Q A E D G R S Q A A V G A V P E G p.140
. . . . . | 06. g.12520
GCCTGGAAGGATACGGCCCAGCTCCACAAGAGCGAGGAGGCGGTGAGTGTCGGACAG | AAG c.480
A W K D T A Q L H K S E E A V S V G Q | K p.160
. . . . . . g.12580
CGGGTGCTGCGGTATTACCTCTTCCAGGGCCAGCGCTATATCTGGATCGAGACCCAGCAA c.540
R V L R Y Y L F Q G Q R Y I W I E T Q Q p.180
. | 07. . . . . g.14598
GCCTTCTACCAGGTCAG | CCTCCTGGACCATGGCCGCTCTTGTGACGACGTCCACCGCTCC c.600
A F Y Q V S | L L D H G R S C D D V H R S p.200
. . . | 08 . . . g.14850
CGCCATGGCCTCAGCCTCCAGGACCAAATGGTGAG | GAAGGCCATTTACGGCCCCAACGTG c.660
R H G L S L Q D Q M V R | K A I Y G P N V p.220
. . . . | 09 . . g.16409
ATCAGCATACCGGTCAAGTCCTACCCCCAGCTGCTGGTGGACGAG | GCACTGAACCCCTAC c.720
I S I P V K S Y P Q L L V D E | A L N P Y p.240
. . . . . . g.16469
TATGGGTTCCAGGCCTTCAGCATCGCGCTGTGGCTGGCTGACCACTACTACTGGTACGCC c.780
Y G F Q A F S I A L W L A D H Y Y W Y A p.260
. . . . . . g.16529
CTGTGCATCTTCCTCATTTCCTCCATCTCCATCTGCCTGTCGCTGTACAAGACCAGAAAG c.840
L C I F L I S S I S I C L S L Y K T R K p.280
| 10 . . . . . . g.16676
| CAAAGCCAGACTCTAAGGGACATGGTCAAGTTGTCCATGCGGGTGTGCGTGTGCCGGCCA c.900
| Q S Q T L R D M V K L S M R V C V C R P p.300
| 11. . . . . . g.16839
GGGGGAG | AGGAAGAGTGGGTGGACTCCAGTGAGCTAGTGCCCGGAGACTGCCTGGTGCTG c.960
G G E | E E W V D S S E L V P G D C L V L p.320
. . . . . . g.16899
CCCCAGGAGGGTGGGCTGATGCCCTGTGATGCCGCCCTGGTGGCCGGCGAGTGCATGGTG c.1020
P Q E G G L M P C D A A L V A G E C M V p.340
. | 12 . . . . g.19794
AATGAGAGCTCTCTGACAG | GAGAGAGCATTCCAGTGCTGAAGACGGCACTGCCGGAGGGG c.1080
N E S S L T G | E S I P V L K T A L P E G p.360
. . . . . . g.19854
CTGGGGCCCTACTGTGCAGAGACACACCGGCGGCACACACTCTTCTGCGGGACCCTCATC c.1140
L G P Y C A E T H R R H T L F C G T L I p.380
. . . . . | 13 . g.20437
TTGCAGGCCCGGGCCTATGTGGGACCGCACGTCCTGGCAGTGGTGACCCGCACAG | GGTTC c.1200
L Q A R A Y V G P H V L A V V T R T G | F p.400
. . . . . . g.20497
TGCACGGCAAAAGGGGGCCTGGTGAGCTCCATCTTGCACCCCCGGCCCATCAACTTCAAG c.1260
C T A K G G L V S S I L H P R P I N F K p.420
. . . . | 14 . . g.20642
TTCTATAAACACAGCATGAAGTTTGTGGCTGCCCTCTCTGTCCTGG | CTCTCCTCGGCACC c.1320
F Y K H S M K F V A A L S V L A | L L G T p.440
. . . | 15 . . . g.20791
ATCTACAGCATCTTCATCCTCTACCGAAACCGG | GTGCCTCTGAATGAGATTGTAATCCGG c.1380
I Y S I F I L Y R N R | V P L N E I V I R p.460
. . . . . . g.20851
GCTCTCGACCTGGTGACCGTGGTGGTGCCACCTGCCCTGCCTGCTGCCATGACTGTGTGC c.1440
A L D L V T V V V P P A L P A A M T V C p.480
. . . . . . g.20911
ACGCTCTACGCCCAGAGCCGACTGCGGAGACAGGGCATTTTCTGCATCCACCCACTGCGC c.1500
T L Y A Q S R L R R Q G I F C I H P L R p.500
. . . . | 16 . . g.23111
ATCAACCTGGGGGGCAAGCTGCAGCTGGTGTGTTTCGACAAG | ACGGGCACCCTCACTGAG c.1560
I N L G G K L Q L V C F D K | T G T L T E p.520
. . . . . . g.23171
GACGGCTTAGACGTGATGGGGGTGGTGCCCCTGAAGGGGCAGGCATTCCTGCCCCTGGTC c.1620
D G L D V M G V V P L K G Q A F L P L V p.540
. . . . . . g.23231
CCAGAGCCTCGCCGCCTGCCTGTGGGGCCCCTGCTCCGAGCACTGGCCACCTGCCATGCC c.1680
P E P R R L P V G P L L R A L A T C H A p.560
. . . . . . g.23291
CTCAGCCGGCTCCAGGACACCCCCGTGGGCGACCCCATGGACTTGAAGATGGTGGAGTCT c.1740
L S R L Q D T P V G D P M D L K M V E S p.580
| 17 . . . . . g.24398
ACTGGCTGG | GTCCTGGAGGAAGAGCCGGCTGCAGACTCAGCATTTGGGACCCAGGTCTTG c.1800
T G W | V L E E E P A A D S A F G T Q V L p.600
. . . . | 18 . . g.24541
GCAGTGATGAGACCCCCACTTTGGGAGCCCCAGCTGCAGGCAATG | GAGGAGCCCCCGGTG c.1860
A V M R P P L W E P Q L Q A M | E E P P V p.620
. . . . . . g.24601
CCAGTCAGCGTCCTCCACCGCTTCCCCTTCTCTTCGGCTCTGCAGCGCATGAGTGTGGTG c.1920
P V S V L H R F P F S S A L Q R M S V V p.640
. . . . . . g.24661
GTGGCGTGGCCAGGGGCCACTCAGCCCGAGGCCTACGTCAAAGGCTCCCCGGAGCTGGTG c.1980
V A W P G A T Q P E A Y V K G S P E L V p.660
. . | 19 . . . . g.24834
GCAGGGCTCTGCAACCCCGAGACAG | TGCCCACCGACTTCGCCCAGATGCTGCAGAGCTAT c.2040
A G L C N P E T V | P T D F A Q M L Q S Y p.680
. . . . . . g.24894
ACAGCTGCTGGCTACCGTGTCGTGGCCCTGGCCAGCAAGCCACTGCCCACTGTGCCCAGC c.2100
T A A G Y R V V A L A S K P L P T V P S p.700
. . | 20 . . . . g.25104
CTGGAGGCAGCCCAGCAACTGACGAG | GGACACTGTGGAAGGAGACCTGAGCCTCCTGGGG c.2160
L E A A Q Q L T R | D T V E G D L S L L G p.720
. . . . . . g.25164
CTGCTGGTCATGAGGAACCTACTGAAGCCGCAGACAACGCCAGTTATCCAGGCTCTGCGA c.2220
L L V M R N L L K P Q T T P V I Q A L R p.740
. . . | 21 . . . g.26670
AGGACCCGCATCCGCGCCGTCATGGTGACAG | GGGACAACCTGCAGACAGCGGTGACTGTG c.2280
R T R I R A V M V T G | D N L Q T A V T V p.760
. . . . . . g.26730
GCCCGGGGCTGTGGCATGGTGGCCCCCCAGGAGCATCTGATCATCGTCCACGCCACCCAC c.2340
A R G C G M V A P Q E H L I I V H A T H p.780
. . . . . . g.26790
CCTGAGCGGGGTCAGCCTGCCTCTCTCGAGTTCCTGCCGATGGAGTCCCCCACAGCCGTG c.2400
P E R G Q P A S L E F L P M E S P T A V p.800
. | 22 . . . . . g.26973
AATGGCGTTAAG | GATCCTGACCAGGCTGCAAGCTACACCGTGGAGCCAGACCCCCGATCC c.2460
N G V K | D P D Q A A S Y T V E P D P R S p.820
. . . . . . g.27033
AGGCACCTGGCCCTCAGCGGGCCCACCTTTGGTATCATTGTGAAGCACTTCCCCAAGCTG c.2520
R H L A L S G P T F G I I V K H F P K L p.840
| 23 . . . . . g.27209
CTGCCCAAG | GTCCTGGTCCAGGGCACTGTCTTTGCCCGCATGGCCCCTGAGCAGAAGACA c.2580
L P K | V L V Q G T V F A R M A P E Q K T p.860
. . | 24 . . . g.28485
GAGCTGGTGTGCGAGCTACAGAAGCTTCA | GTACTGCGTGGGCATGTGCGGAGACGGCGCC c.2640
E L V C E L Q K L Q | Y C V G M C G D G A p.880
. . . . . . g.28545
AATGACTGTGGGGCCCTGAAGGCGGCTGATGTCGGCATCTCGCTGTCCCAGGCAGAAGCC c.2700
N D C G A L K A A D V G I S L S Q A E A p.900
. . . . . . g.28605
TCAGTGGTCTCACCCTTCACCTCGAGCATGGCCAGTATTGAGTGCGTGCCCATGGTCATC c.2760
S V V S P F T S S M A S I E C V P M V I p.920
| 25 . . . . . . g.28752
AG | GGAGGGGCGCTGTTCCCTTGACACTTCGTTCAGCGTCTTCAAGTACATGGCTCTGTAC c.2820
R | E G R C S L D T S F S V F K Y M A L Y p.940
. . . | 26 . . g.29680
AGCCTGACCCAGTTCATCTCCGTCCTGATCCTCTACACG | ATCAACACCAACCTGGGTGAC c.2880
S L T Q F I S V L I L Y T | I N T N L G D p.960
. . . . . . g.29740
CTGCAGTTCCTGGCCATCGACCTGGTCATCACCACCACAGTGGCAGTGCTCATGAGCCGC c.2940
L Q F L A I D L V I T T T V A V L M S R p.980
. . . . . . g.29800
ACGGGGCCAGCGCTGGTCCTGGGACGGGTGCGGCCACCGGGGGCGCTGCTCAGCGTGCCC c.3000
T G P A L V L G R V R P P G A L L S V P p.1000
. . . . . . g.29860
GTGCTCAGCAGCCTGCTGCTGCAGATGGTCCTGGTGACCGGCGTGCAGCTAGGGGGCTAC c.3060
V L S S L L L Q M V L V T G V Q L G G Y p.1020
. . | 27 . . . . g.30009
TTCCTGACCCTGGCCCAGCCATG | GTTCGTGCCTCTGAACAGGACAGTGGCCGCACCAGAC c.3120
F L T L A Q P W | F V P L N R T V A A P D p.1040
. . . . . . g.30069
AACCTGCCCAACTACGAGAACACCGTGGTCTTCTCTCTGTCCAGCTTCCAGTACCTCATC c.3180
N L P N Y E N T V V F S L S S F Q Y L I p.1060
. . . . . | 28 . g.30301
CTGGCTGCAGCCGTGTCCAAGGGGGCGCCCTTCCGCCGGCCGCTCTACACCAATG | TGCCC c.3240
L A A A V S K G A P F R R P L Y T N V | P p.1080
. . . . . . g.30361
TTCCTGGTGGCCCTGGCGCTCCTGAGCTCCGTCCTGGTGGGCCTTGTCCTGGTCCCCGGC c.3300
F L V A L A L L S S V L V G L V L V P G p.1100
. . . . . . g.30421
CTCCTGCAGGGGCCGCTGGCGCTGAGGAACATCACTGACACCGGCTTCAAGCTGCTGCTG c.3360
L L Q G P L A L R N I T D T G F K L L L p.1120
. . . . | 29 . . g.30585
CTGGGTCTGGTCACCCTCAACTTCGTGGGGGCCTTCATGCTGGAG | AGCGTGCTAGACCAG c.3420
L G L V T L N F V G A F M L E | S V L D Q p.1140
. . . . . . g.30645
TGCCTCCCCGCCTGCCTGCGCCGCCTCCGGCCCAAGCGGGCCTCCAAGAAGCGCTTCAAG c.3480
C L P A C L R R L R P K R A S K K R F K p.1160
. . . . . . g.30705
CAGCTGGAACGAGAGCTGGCCGAGCAGCCCTGGCCGCCGCTGCCCGCCGGCCCCCTGAGG c.3540
Q L E R E L A E Q P W P P L P A G P L R p.1180
g.30708
TAG c.3543
X p.1180
. . . . . . g.30768
tgcaggcccacgggcaccccagacactggaactccctgcctctgagccaccaactggacc c.*60
. . . . . . g.30828
cctctccagcaacaccaccgccaccacctcccacatccctgaggttggcgactgtctaca c.*120
. . . . . . g.30888
ctcctcccccgagaccacccccaccctggggaagcgttgactactgtcccctaccttgga c.*180
. . . . . . g.30948
ccatcccgcgtaggggtggcagcccccagctcccctcagtgctgctgtcagtgtagcaaa c.*240
. . g.30971
taaagtcatgatattttcctggc c.*263
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center