(used for variant description)
(last modified September 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_153818.1 in the PEX10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008342.1, covering PEX10 transcript NM_153818.1.
(upstream sequence)
g.5009
atcagttct c.-61
. . . . . . g.5069
cgcccgtctgggcgtgggcgtggccggcgtggctgctcgggaccacccgaacccgcggcc c.-1
. . . . . . g.5129
ATGGCCCCGGCCGCCGCCAGCCCCCCGGAGGTGATCCGCGCGGCGCAGAAGGACGAGTAC c.60
M A P A A A S P P E V I R A A Q K D E Y p.20
. . . . . | 02 . g.7128
TACCGCGGTGGGCTGCGGAGCGCGGCGGGCGGCGCCCTGCACAGCCTGGCGG | GTGCGAGG c.120
Y R G G L R S A A G G A L H S L A G | A R p.40
. . . . . . g.7188
AAGTGGCTGGAGTGGAGGAAGGAGGTTGAGCTGCTCTCAGATGTGGCCTACTTTGGCCTC c.180
K W L E W R K E V E L L S D V A Y F G L p.60
. | 03 . . . . . g.8760
ACCACACTTGCAG | GCTACCAGACCCTGGGGGAGGAGTACGTCAGCATCATCCAGGTGGAC c.240
T T L A G | Y Q T L G E E Y V S I I Q V D p.80
. . . . . . g.8820
CCATCGCGGATACATGTGCCCTCCTCGCTGCGCCGTGGCGTGCTGGTGACACTGCATGCC c.300
P S R I H V P S S L R R G V L V T L H A p.100
. . . . . . g.8880
GTCCTGCCCTACCTGCTGGACAAGGCCCTGCTCCCCCTGGAGCAGGAGCTGCAGGCTGAC c.360
V L P Y L L D K A L L P L E Q E L Q A D p.120
. . . . . . g.8940
CCCGACAGTGGGCGACCCTTGCAGGGGAGCCTGGGGCCAGGTGGGCGTGGCTGCTCAGGG c.420
P D S G R P L Q G S L G P G G R G C S G p.140
. . . . . . g.9000
GCGCGGCGCTGGATGCGTCACCACACGGCCACCCTGACTGAGCAGCAGAGGAGGGCGCTG c.480
A R R W M R H H T A T L T E Q Q R R A L p.160
. . . . . . g.9060
CTGCGGGCGGTCTTCGTCCTCAGACAGGGCCTCGCCTGCCTCCAGCGGCTACATGTTGCC c.540
L R A V F V L R Q G L A C L Q R L H V A p.180
. . . . . . g.9120
TGGTTTTACATCCACGGTGTCTTCTACCACCTGGCCAAGAGGCTCACGGGGATCACGTAC c.600
W F Y I H G V F Y H L A K R L T G I T Y p.200
| 04 . . . . . . g.10676
| CAGGCGCTGAGGCCAGATCCCCTCAGGGTCCTGATGAGTGTGGCGCCATCTGCCTTACAG c.660
| Q A L R P D P L R V L M S V A P S A L Q p.220
. . . . . . g.10736
CTCCGTGTCCGCAGCCTGCCCGGAGAGGACCTGAGGGCCCGTGTTAGCTACAGGCTGCTG c.720
L R V R S L P G E D L R A R V S Y R L L p.240
. . . . . . g.10796
GGGGTCATCTCACTGCTGCACCTGGTGCTGTCCATGGGGCTGCAGCTGTACGGTTTCAGG c.780
G V I S L L H L V L S M G L Q L Y G F R p.260
. . . . . | 05 . g.10956
CAGCGGCAGCGAGCCAGGAAGGAGTGGAGGCTGCACCGCGGCCTGTCTCACCGCAG | GGCC c.840
Q R Q R A R K E W R L H R G L S H R R | A p.280
. . . . . . g.11016
TCCTTGGAGGAGAGAGCCGTTTCCAGAAACCCCCTGTGCACCCTGTGCCTGGAGGAGCGC c.900
S L E E R A V S R N P L C T L C L E E R p.300
. . . . . . g.11076
AGGCACCCAACAGCCACGCCCTGCGGCCACCTGTTCTGCTGGGAGTGCATCACCGCGTGG c.960
R H P T A T P C G H L F C W E C I T A W p.320
. | 06 . . . . . g.11785
TGCAGCAGCAAG | GCGGAGTGTCCCCTCTGCCGGGAGAAGTTCCCTCCCCAGAAGCTCATC c.1020
C S S K | A E C P L C R E K F P P Q K L I p.340
. . g.11806
TACCTTCGGCACTACCGCTGA c.1041
Y L R H Y R X p.346
. . . . . . g.11866
gccggcgcccgggtgggcctggacacagatgacctctacgggagtctgaacgccaagatt c.*60
. . . . . . g.11926
tagtctcaggattaaccttgcttgcacagaagttagaacactctcagttttttgtcatgt c.*120
. . . . . . g.11986
aagatactaacctagccaccctgggagagaacagaaagctgtccctggctgcgctttctc c.*180
. . . . . . g.12046
agccctgggaggggcgcctgaacccagaacatttccctaaccccaacctggtaggactca c.*240
. . . . . . g.12106
gccacttcttcaggaatttcacttatttggacgggattttaggtttccctcccttcccca c.*300
. . . . . . g.12166
aaccatacagttgagaagtaattcagaagtaggccagaagacactttattcgtttatatt c.*360
. . . . . . g.12226
gtgagaaaacagccccatcaggcttgtgttaaggcaatggactgaatgagtgcgtgctgg c.*420
. . . . . . g.12286
gtggggtggggcacggaggctggcgggttgcttcagccagtgcagtgagaacagcagccc c.*480
. . . . . . g.12346
cacggccccatgggaggcggcgctgctctccccgagggcggctgggcagagcacatcccc c.*540
. . . . . . g.12406
caggacttgatgaccacacggggcagagagaaaccaaccaaggccagcacctccgtcgga c.*600
. . . . . . g.12466
agcatttggcacacacaccttcaatacacgtcaaggtcgcttccagttttagaaaacaga c.*660
. . . . . . g.12526
aatctgcatctcagcctgagacgcacagagaggtctcttcctgacccagacgcactcacg c.*720
. . . . . . g.12586
agccaggtcctgggggtatgggggctgccaggggcgcccgagccctctcctggggggcct c.*780
. . . . . . g.12646
gctgggcaggcgacctgctgacccacggtcactgctgtgttcagcccctcagctcggccc c.*840
. . . . . . g.12706
cagcctatttcccgcctccatttgatgtttccaggttttcaaaactgcatttaacctgcg c.*900
. . . . . . g.12766
ccagagagttcaccgtaggcatctttaataaactaactccagcaaaatgtgggtacgtta c.*960
g.12770
ctaa c.*964
(downstream sequence)
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