(used for variant description)
(last modified March 17, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000152.3 in the GAA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009822.1, covering GAA transcript NM_000152.3.
(upstream sequence)
g.5007
acccgcc c.-361
. . . . . . g.5067
tctgcgcgcccccgggcacgaccccggagtctccgcgggcggccagggcgcgcgtgcgcg c.-301
. . . . . . g.5127
gaggtgagccgggccggggctgcggggcttccctgagcgcgggccgggtcggtggggcgg c.-241
. . . . . . g.5187
tcggctgcccgcgcggcctctcagttgggaaagctgaggttgtcgccggggccgcgggtg c.-181
. . . . . . g.5247
gaggtcggggatgaggcagcaggtaggacagtgacctcggtgacgcgaaggaccccggcc c.-121
. . . . . . g.5307
acctctaggttctcctcgtccgcccgttgttcagcgagggaggctctgcgcgtgccgcag c.-61
. . . | 02. . . g.8031
ctgacggggaaactgaggcacggagcgg | gcctgtaggagctgtccaggccatctccaacc c.-1
. . . . . . g.8091
ATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCC c.60
M G V R H P P C S H R L L A V C A L V S p.20
. . . . . . g.8151
TTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGA c.120
L A T A A L L G H I L L H D F L L V P R p.40
. . . . . . g.8211
GAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCC c.180
E L S G S S P V L E E T H P A H Q Q G A p.60
. . . . . . g.8271
AGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACA c.240
S R P G P R D A Q A H P G R P R A V P T p.80
. . . . . . g.8331
CAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAG c.300
Q C D V P P N S R F D C A P D K A I T Q p.100
. . . . . . g.8391
GAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCC c.360
E Q C E A R G C C Y I P A K Q G L Q G A p.120
. . . . . . g.8451
CAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAAC c.420
Q M G Q P W C F F P P S Y P S Y K L E N p.140
. . . . . . g.8511
CTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTC c.480
L S S S E M G Y T A T L T R T T P T F F p.160
. . . . . . g.8571
CCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCAC c.540
P K D I L T L R L D V M M E T E N R L H p.180
| 03 . . . . . . g.9247
TTCACG | ATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTC c.600
F T | I K D P A N R R Y E V P L E T P H V p.200
. . . . . . g.9307
CACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTG c.660
H S R A P S P L Y S V E F S E E P F G V p.220
. . . | 04 . . . g.11029
ATCGTGCGCCGGCAGCTGGACGGCCGCGTGCT | GCTGAACACGACGGTGGCGCCCCTGTTC c.720
I V R R Q L D G R V L | L N T T V A P L F p.240
. . . . . . g.11089
TTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTC c.780
F A D Q F L Q L S T S L P S Q Y I T G L p.260
. . . . . . g.11149
GCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAAC c.840
A E H L S P L M L S T S W T R I T L W N p.280
. | 05 . . . . g.11286
CGGGACCTTGCGCCCACG | CCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCG c.900
R D L A P T | P G A N L Y G S H P F Y L A p.300
. . . . . | 06 . g.11739
CTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGG | ATGTG c.960
L E D G G S A H G V F L L N S N A M D | V p.320
. . . . . . g.11799
GTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTAC c.1020
V L Q P S P A L S W R S T G G I L D V Y p.340
. . . . . | 07 . g.11938
ATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGG | GATAC c.1080
I F L G P E P K S V V Q Q Y L D V V G | Y p.360
. . . . . . g.11998
CCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCC c.1140
P F M P P Y W G L G F H L C R W G Y S S p.380
. . . . . | 08 . g.12147
ACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTG | GACGTC c.1200
T A I T R Q V V E N M T R A H F P L | D V p.400
. . . . . . g.12207
CAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGC c.1260
Q W N D L D Y M D S R R D F T F N K D G p.420
. . . . . . g.12267
TTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATG c.1320
F R D F P A M V Q E L H Q G G R R Y M M p.440
| 09 . . . . . . g.13443
ATCGTG | GATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAG c.1380
I V | D P A I S S S G P A G S Y R P Y D E p.460
. . . . . | 10. g.14174
GGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAG | GTA c.1440
G L R R G V F I T N E T G Q P L I G K | V p.480
. . . . . . g.14234
TGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAG c.1500
W P G S T A F P D F T N P T A L A W W E p.500
. . . . . | 11 . g.14394
GACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATT | GACATGAAC c.1560
D M V A E F H D Q V P F D G M W I | D M N p.520
. . . . . . g.14454
GAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAAC c.1620
E P S N F I R G S E D G C P N N E L E N p.540
. | 12 . . . . . g.15471
CCACCCTACGTGCCTG | GGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCC c.1680
P P Y V P G | V V G G T L Q A A T I C A S p.560
. . . . . . g.15531
AGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCC c.1740
S H Q F L S T H Y N L H N L Y G L T E A p.580
. | 13 . . . . . g.16068
ATCGCCTCCCACAG | GGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGC c.1800
I A S H R | A L V K A R G T R P F V I S R p.600
. . . . . . g.16128
TCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCC c.1860
S T F A G H G R Y A G H W T G D V W S S p.620
. . | 14 . . . g.16352
TGGGAGCAGCTCGCCTCCTCCGTGCCAG | AAATCCTGCAGTTTAACCTGCTGGGGGTGCCT c.1920
W E Q L A S S V P E | I L Q F N L L G V P p.640
. . . . . . g.16412
CTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGC c.1980
L V G A D V C G F L G N T S E E L C V R p.660
. . . . . . g.16472
TGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTG c.2040
W T Q L G A F Y P F M R N H N S L L S L p.680
| 15 . . . . . . g.16722
| CCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACC c.2100
| P Q E P Y S F S E P A Q Q A M R K A L T p.700
. . . . . . g.16782
CTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGG c.2160
L R Y A L L P H L Y T L F H Q A H V A G p.720
. . | 16 . . . g.20443
GAGACCGTGGCCCGGCCCCTCTTCCTGGA | GTTCCCCAAGGACTCTAGCACCTGGACTGTG c.2220
E T V A R P L F L E | F P K D S S T W T V p.740
. . . . . . g.20503
GACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAG c.2280
D H Q L L W G E A L L I T P V L Q A G K p.760
. . . . . | 17 . g.21053
GCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACG | GTGCCAGTA c.2340
A E V T G Y F P L G T W Y D L Q T | V P V p.780
. . . . . . g.21113
GAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGC c.2400
E A L G S L P P P P A A P R E P A I H S p.800
. . . . . . g.21173
GAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCT c.2460
E G Q W V T L P A P L D T I N V H L R A p.820
. . | 18 . . . . g.21676
GGGTACATCATCCCCCTGCAG | GGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCC c.2520
G Y I I P L Q | G P G L T T T E S R Q Q P p.840
. . . . . . g.21736
ATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGAC c.2580
M A L A V A L T K G G E A R G E L F W D p.860
. . . . . . g.21796
GATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCC c.2640
D G E S L E V L E R G A Y T Q V I F L A p.880
| 19 . . . . . . g.22151
AGGAAT | AACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAG c.2700
R N | N T I V N E L V R V T S E G A G L Q p.900
. . . . . . g.22211
CTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGT c.2760
L Q K V T V L G V A T A P Q Q V L S N G p.920
. . . | 20 . . g.22737
GTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAG | GTCCTGGACATCTGTGTCTCG c.2820
V P V S N F T Y S P D T K | V L D I C V S p.940
. . . g.22776
CTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAG c.2859
L L M G E Q F L V S W C X p.952
. . . . . . g.22836
ccgggcggagtgtgttagtctctccagagggaggctggttccccagggaagcagagcctg c.*60
. . . . . . g.22896
tgtgcgggcagcagctgtgtgcgggcctgggggttgcatgtgtcacctggagctgggcac c.*120
. . . . . . g.22956
taaccattccaagccgccgcatcgcttgtttccacctcctgggccggggctctggccccc c.*180
. . . . . . g.23016
aacgtgtctaggagagctttctccctagatcgcactgtgggccggggccctggagggctg c.*240
. . . . . . g.23076
ctctgtgttaataagattgtaaggtttgccctcctcacctgttgccggcatgcgggtagt c.*300
. . . . . . g.23136
attagccacccccctccatctgttcccagcaccggagaagggggtgctcaggtggaggtg c.*360
. . . . . . g.23196
tggggtatgcacctgagctcctgcttcgcgcctgctgctctgccccaacgcgaccgctgc c.*420
. . . . . . g.23256
ccggctgcccagagggctggatgcctgccggtccccgagcaagcctgggaactcaggaaa c.*480
. . . . . . g.23316
attcacaggacttgggagattctaaatcttaagtgcaattatttttaataaaaggggcat c.*540
g.23325
ttggaatca c.*549
(downstream sequence)
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