(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_033087.3 in the ALG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008928.1, covering ALG2 transcript NM_033087.3.
(upstream sequence)
. g.5010
gagctacgag c.-61
. . . . . . g.5070
cgcggagcttgcgcagaagacccccatcagggtgcggggtgcagttgcggctccagggcc c.-1
. . . . . . g.5130
ATGGCGGAGGAGCAGGGCCGGGAACGGGACTCGGTTCCCAAGCCGTCGGTGCTGTTCCTC c.60
M A E E Q G R E R D S V P K P S V L F L p.20
. . . . . . g.5190
CACCCAGACCTGGGCGTGGGCGGCGCTGAGCGGCTGGTGTTGGACGCGGCGCTGGCGCTG c.120
H P D L G V G G A E R L V L D A A L A L p.40
. . . . . . g.5250
CAGGCGCGCGGGTGTAGCGTGAAGATCTGGACAGCGCACTACGACCCGGGCCACTGTTTC c.180
Q A R G C S V K I W T A H Y D P G H C F p.60
. . . . . . g.5310
GCCGAGAGCCGCGAGCTACCGGTGCGCTGTGCCGGGGACTGGCTGCCGCGAGGCCTGGGC c.240
A E S R E L P V R C A G D W L P R G L G p.80
. . . . . . g.5370
TGGGGCGGCCGCGGCGCCGCCGTCTGCGCCTACGTGCGCATGGTTTTCCTGGCGCTCTAC c.300
W G G R G A A V C A Y V R M V F L A L Y p.100
. . . . | 02 . g.8140
GTGCTGTTCCTCGCCGACGAGGAGTTCGACGTGGTAGTGTGCGACCAG | GTGTCTGCCTGT c.360
V L F L A D E E F D V V V C D Q | V S A C p.120
. . . . . . g.8200
ATCCCAGTGTTCAGGCTGGCTAGACGGCGGAAGAAGATCCTATTTTACTGTCACTTCCCA c.420
I P V F R L A R R R K K I L F Y C H F P p.140
. . . . . . g.8260
GATCTGCTTCTCACCAAGAGAGATTCTTTTCTTAAACGACTATACAGGGCCCCAATTGAC c.480
D L L L T K R D S F L K R L Y R A P I D p.160
. . . . . . g.8320
TGGATAGAGGAATACACCACAGGCATGGCAGACTGCATCTTAGTCAACAGCCAGTTCACA c.540
W I E E Y T T G M A D C I L V N S Q F T p.180
. . . . . . g.8380
GCTGCTGTTTTTAAGGAAACATTCAAGTCCCTGTCTCACATAGACCCTGATGTCCTCTAT c.600
A A V F K E T F K S L S H I D P D V L Y p.200
. . . . . . g.8440
CCATCTCTAAATGTCACCAGCTTTGACTCAGTTGTTCCTGAAAAGCTGGATGACCTAGTC c.660
P S L N V T S F D S V V P E K L D D L V p.220
. . . . . . g.8500
CCCAAGGGGAAAAAATTCCTGCTGCTCTCCATCAACAGATACGAAAGGAAGAAAAATCTG c.720
P K G K K F L L L S I N R Y E R K K N L p.240
. . . . . . g.8560
ACTTTGGCACTGGAAGCCCTAGTACAGCTGCGTGGAAGATTGACATCCCAAGATTGGGAG c.780
T L A L E A L V Q L R G R L T S Q D W E p.260
. . . . . . g.8620
AGGGTTCATCTGATCGTGGCAGGTGGTTATGACGAGAGAGTCCTGGAGAATGTGGAACAT c.840
R V H L I V A G G Y D E R V L E N V E H p.280
. . . . . . g.8680
TATCAGGAATTGAAGAAAATGGTCCAACAGTCCGACCTTGGCCAGTATGTGACCTTCTTG c.900
Y Q E L K K M V Q Q S D L G Q Y V T F L p.300
. . . . . . g.8740
AGGTCTTTCTCAGACAAACAGAAAATCTCCCTCCTCCACAGCTGCACGTGTGTGCTTTAC c.960
R S F S D K Q K I S L L H S C T C V L Y p.320
. . . . . . g.8800
ACACCAAGCAATGAGCACTTTGGCATTGTCCCTCTGGAAGCCATGTACATGCAGTGCCCA c.1020
T P S N E H F G I V P L E A M Y M Q C P p.340
. . . . . . g.8860
GTCATTGCTGTTAATTCGGGTGGACCCTTGGAGTCCATTGACCACAGTGTCACAGGGTTT c.1080
V I A V N S G G P L E S I D H S V T G F p.360
. . . . . . g.8920
CTGTGTGAGCCTGACCCGGTGCACTTCTCAGAAGCAATAGAAAAGTTCATCCGTGAACCT c.1140
L C E P D P V H F S E A I E K F I R E P p.380
. . . . . . g.8980
TCCTTAAAAGCCACCATGGGCCTGGCTGGAAGAGCCAGAGTGAAGGAAAAATTTTCCCCT c.1200
S L K A T M G L A G R A R V K E K F S P p.400
. . . . . g.9031
GAAGCATTTACAGAACAGCTCTACCGATATGTTACCAAACTGCTGGTATAA c.1251
E A F T E Q L Y R Y V T K L L V X p.416
. . . . . . g.9091
tcagattgtttttaagatctccattaatgtcatttttatggattgtagacccagttttga c.*60
. . . . . . g.9151
aaccaaaaaagaaacctagaatctaatgcagaagagatcttttaaaaaataaacttgagt c.*120
. . . . . . g.9211
cttgaatgtgagccactttcctatataccacacctccctgtccacttttcagaaaaacca c.*180
. . . . . . g.9271
tgtcttttatgctataatcattccaaattttgccagtgttaagttacaaatgtggtgtca c.*240
. . . . . . g.9331
ttccatgttcagcagagtattttaattatattttctcgggattattgctcttctgtctat c.*300
. . . . . . g.9391
aaattttgaatgatactgtgccttaattggttttcatagtttaagtgtgtatcattatca c.*360
. . . . . . g.9451
aagttgattaatttggcttcatagtataatgagagcagggctattgtagttcccagattc c.*420
. . . . . . g.9511
aatccaccgaagtgttcactgtcatctgttagggaatttttgtttgtcctgtctttgcct c.*480
. . . . . . g.9571
ggatccatagcgagagtgctctgtattttttttaagataatttgtatttttgcacactga c.*540
. . . . . . g.9631
gatataataaaaggtgtttatcataaaaaagaaacagtattagattttggtctccataat c.*600
. . . . . . g.9691
ctattttggtattgttacgaacatggatatgacaaccaaactggaaatcagaacactagg c.*660
. . . . . . g.9751
gtaaagtggatattgaaatgaagcaagaatattgtcacacatgtgttgtgcatcttgttt c.*720
. . . . . . g.9811
agggtatatttcttaatgtcatctaggtcattagttttgttaatatttgtgttgtcttga c.*780
. . . . . . g.9871
ccaagctcctactaagtataggacacaaatgttttttatcttccaaggcctggctcaaat c.*840
. . . . . . g.9931
gccactgctgcaaagctttctttgaccctctggccacctcccaagccagaagttatcttc c.*900
. . . . . . g.9991
cccctccatgtactctagccttttcatgacactgatattttcgtgacactgacttatagt c.*960
. . . . . . g.10051
tcactgtttacctgttggtctaacagcaaatcataaacagtagttttcaacatacttcta c.*1020
. . . . . . g.10111
aggctaaattcatttccagaagtagcaaagcttactagccaaaggctccacatttatcaa c.*1080
. . . . . . g.10171
ctcttaagagctagacttgagagcctaacagcctatatgattttgtgtaaattgatctct c.*1140
. . . . . . g.10231
atacctcagcttcttcatctgcaaagtgagataattgtactattctactttcctcatagt c.*1200
. . . . . . g.10291
gcggttataacagattatgataatattacaaagtacttaatacttggcatatagtatata c.*1260
. . . . . . g.10351
tattagctattagtattttgcaatttggggatattgaaaattagaaattgcatgttagtt c.*1320
. . . . . . g.10411
catgctgcactaccatattgttcttttggggctcttcaatgggtgaaattccattttaca c.*1380
. . . . . . g.10471
gtttatcatgtgcatctgtatcacaggagtattttggcaaaatgattctgtaccaaaaag c.*1440
. . . . . . g.10531
gagtactataaaatgagggtgccaaatatattgagtcttttatgggattaaaagttctgt c.*1500
g.10540
tgcattcca c.*1509
(downstream sequence)
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