(used for variant description)
(last modified October 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002584.2 in the PAX7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023262.1, covering PAX7 transcript NM_002584.2.
(upstream sequence)
. . . . . g.5058
gaaagctggtgtggagggagaagcgagtgtggtccggagaaagaaggcgtggagaaga c.-541
. . . . . . g.5118
gggagggagcgagagcgagagaataaatatataaataaatacgagaacgaaatccactcc c.-481
. . . . . . g.5178
gcagtctccgggctcggaaactttggccccgagcgccagagcgccagagcgcgagagcgc c.-421
. . . . . . g.5238
ggcgctcgccactctgaggctggcggcctcgattccggccgcgttcccccggcccccctc c.-361
. . . . . . g.5298
cgccgcggggcctggtctccgggttctgccaggcgcatcagcccgcacaacttctggccg c.-301
. . . . . . g.5358
aggccagccggcagaggcggacttggggttggagtgtttgtttgtttgaacttcctcgtc c.-241
. . . . . . g.5418
gtcgccaccttccctccccccaacctccaccccacctcacccccctccccagcttctgga c.-181
. . . . . . g.5478
cgcgtttgactgcagccaggggtggggggtgggggtagggagtgtgtgtggaggggaggg c.-121
. . . . . . g.5538
agaagaggttaaaaaaaagaagacgaagaagacggaaagaaagagatcgcagcaggggtg c.-61
. . . . . . g.5598
aagggagcggacgggaagcgatttttgccgactttggattcgtccccggcgtgcgcaaga c.-1
. . . . . . g.5658
ATGGCGGCCCTTCCCGGCACGGTACCGAGAATGATGCGGCCGGCTCCGGGGCAGAACTAC c.60
M A A L P G T V P R M M R P A P G Q N Y p.20
. . | 02 . . . . g.8332
CCCCGCACGGGATTCCCTTTGGAAG | TGTCCACCCCGCTTGGCCAAGGCCGGGTCAATCAG c.120
P R T G F P L E V | S T P L G Q G R V N Q p.40
. . . . . . g.8392
CTGGGAGGGGTCTTCATCAATGGGCGACCCCTGCCTAACCACATCCGCCACAAGATAGTG c.180
L G G V F I N G R P L P N H I R H K I V p.60
. . . . . . g.8452
GAGATGGCCCACCATGGCATCCGGCCCTGTGTCATCTCCCGACAGCTGCGTGTCTCCCAC c.240
E M A H H G I R P C V I S R Q L R V S H p.80
. . . . . . g.8512
GGCTGCGTCTCCAAGATTCTTTGCCGCTACCAGGAGACCGGGTCCATCCGGCCTGGGGCC c.300
G C V S K I L C R Y Q E T G S I R P G A p.100
. . | 03 . . . . g.9144
ATCGGCGGCAGCAAGCCCAGA | CAGGTGGCGACTCCGGATGTAGAGAAAAAGATTGAGGAG c.360
I G G S K P R | Q V A T P D V E K K I E E p.120
. . . . . . g.9204
TACAAGAGGGAAAACCCAGGCATGTTCAGCTGGGAGATCCGGGACAGGCTGCTGAAGGAT c.420
Y K R E N P G M F S W E I R D R L L K D p.140
. . . | 04 . . . g.10260
GGGCACTGTGACCGAAGCACTGTGCCCTCAG | GTTTAGTGAGTTCGATTAGCCGCGTGCTC c.480
G H C D R S T V P S G | L V S S I S R V L p.160
. . . . . . g.10320
AGAATCAAGTTCGGGAAGAAAGAGGAGGAGGATGAAGCGGACAAGAAGGAGGACGACGGC c.540
R I K F G K K E E E D E A D K K E D D G p.180
. . . . | 05 . . g.65762
GAAAAGAAGGCCAAACACAGCATCGACGGCATCCTGGGCGACAAAG | GGAACCGGCTGGAC c.600
E K K A K H S I D G I L G D K G | N R L D p.200
. . . . . . g.65822
GAGGGCTCGGATGTGGAGTCGGAACCTGACCTCCCACTGAAGCGCAAGCAGCGACGCAGT c.660
E G S D V E S E P D L P L K R K Q R R S p.220
. . . . . . g.65882
CGGACCACATTCACGGCCGAGCAGCTGGAGGAGCTGGAGAAGGCCTTTGAGAGGACCCAC c.720
R T T F T A E Q L E E L E K A F E R T H p.240
. . . . . . g.65942
TACCCAGACATATACACCCGCGAGGAGCTGGCGCAGAGGACCAAGCTGACAGAGGCGCGT c.780
Y P D I Y T R E E L A Q R T K L T E A R p.260
| 06 . . . . . . g.74701
GTGCAG | GTCTGGTTCAGTAACCGCCGCGCCCGTTGGCGTAAGCAGGCAGGAGCCAACCAG c.840
V Q | V W F S N R R A R W R K Q A G A N Q p.280
. . . . . . g.74761
CTGGCGGCGTTCAACCACCTTCTGCCAGGAGGCTTCCCACCCACCGGCATGCCCACGCTG c.900
L A A F N H L L P G G F P P T G M P T L p.300
. . . . . | 07 . g.77096
CCCCCCTACCAGCTGCCGGACTCCACCTACCCCACCACCACCATCTCCCAAG | ATGGGGGC c.960
P P Y Q L P D S T Y P T T T I S Q D | G G p.320
. . . . . . g.77156
AGCACTGTGCACCGGCCTCAGCCCCTGCCACCGTCCACCATGCACCAGGGCGGGCTGGCT c.1020
S T V H R P Q P L P P S T M H Q G G L A p.340
. . . . . . g.77216
GCAGCGGCTGCAGCCGCCGACACCAGCTCTGCCTACGGAGCCCGCCACAGCTTCTCCAGC c.1080
A A A A A A D T S S A Y G A R H S F S S p.360
. . . . . . g.77276
TACTCTGACAGCTTCATGAATCCGGCGGCGCCCTCCAACCACATGAACCCGGTCAGCAAC c.1140
Y S D S F M N P A A P S N H M N P V S N p.380
. | 08 . . . . . g.109671
GGCCTGTCTCCTCAG | GTGATGAGCATCTTGGGCAACCCCAGTGCGGTGCCCCCGCAGCCA c.1200
G L S P Q | V M S I L G N P S A V P P Q P p.400
. . . . . . g.109731
CAGGCTGACTTCTCCATCTCCCCGCTGCATGGCGGCCTGGACTCGGCCACCTCCATCTCA c.1260
Q A D F S I S P L H G G L D S A T S I S p.420
. . . . . . g.109791
GCCAGCTGCAGCCAGCGGGCCGACTCCATCAAGCCAGGAGACAGCCTGCCCACCTCCCAG c.1320
A S C S Q R A D S I K P G D S L P T S Q p.440
. . . . . . g.109851
GCCTACTGCCCACCCACCTACAGCACCACCGGCTACAGCGTGGACCCCGTGGCCGGCTAT c.1380
A Y C P P T Y S T T G Y S V D P V A G Y p.460
. . . . . . g.109911
CAGTACGGCCAGTACGGCCAGAGTGAGTGCCTGGTGCCCTGGGCGTCCCCCGTCCCCATT c.1440
Q Y G Q Y G Q S E C L V P W A S P V P I p.480
. . . . . . g.109971
CCTTCTCCCACCCCCAGGGCCTCCTGCTTGTTTATGGAGAGCTACAAGGTGGTGTCAGGG c.1500
P S P T P R A S C L F M E S Y K V V S G p.500
. . . . . . g.110031
TGGGGAATGTCCATTTCACAGATGGAAAAATTGAAGTCCAGCCAGATGGAACAGTTCACC c.1560
W G M S I S Q M E K L K S S Q M E Q F T p.520
g.110034
TAA c.1563
X p.520
. . . . . . g.110094
aatgacactgagttgggcaaaacccaggacatctcctggctaagcctctgcttccgtact c.*60
. . . g.110133
atggctccaacagaaataaaatacacaacacaaatatca c.*99
(downstream sequence)
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