(used for variant description)
(last modified September 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003630.2 in the PEX3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008459.1, covering PEX3 transcript NM_003630.2.
(upstream sequence)
. . g.5022
gaacggacctgggcttgtcgga c.-241
. . . . . . g.5082
ccagtgagcggcggcggctgcgcggcggcagcggcagaaagcgtagctgctttgctgtag c.-181
. . . . . . g.5142
tccacgcccccttgccgctccggtgacagtctctgcggaaagtcacgtttgtgatttcgg c.-121
. . . . . . g.5202
gagagcacagaacgggacgacggcgctcttgctgggtcatctgggccaggtgacgaagaa c.-61
. . . . . . g.5262
acagtttcctggtgaagcagtccctcacccctagtcagcccacacccctagggcctaaag c.-1
. . . . . . g.5322
ATGCTGAGGTCTGTATGGAATTTTCTGAAACGCCACAAAAAGAAATGCATCTTCCTGGGC c.60
M L R S V W N F L K R H K K K C I F L G p.20
. | 02 . . . . . g.13351
ACGGTCCTTGGAG | GAGTATATATTCTGGGGAAATATGGACAGAAGAAAATCAGAGAAATA c.120
T V L G G | V Y I L G K Y G Q K K I R E I p.40
. . . . . . g.13411
CAGGAAAGGGAGGCTGCAGAATACATTGCCCAAGCACGACGACAATATCATTTTGAAAGT c.180
Q E R E A A E Y I A Q A R R Q Y H F E S p.60
. . | 03 . . . . g.17170
AACCAGAGGACTTGCAATATGACAG | TGCTGTCCATGCTTCCAACACTGAGAGAGGCCTTA c.240
N Q R T C N M T V | L S M L P T L R E A L p.80
. . . . | 04. . g.22354
ATGCAGCAACTGAATTCCGAGAGCCTCACAGCTCTGCTAAAAAACAG | GCCTTCAAACAAG c.300
M Q Q L N S E S L T A L L K N R | P S N K p.100
. . . | 05 . . . g.25209
CTAGAAATATGGGAGGATCTGAAGATAATAA | GTTTCACAAGAAGTACTGTGGCTGTATAC c.360
L E I W E D L K I I S | F T R S T V A V Y p.120
. . . . . . g.25269
AGTACCTGTATGCTGGTTGTTCTTTTGCGGGTCCAGTTAAACATAATTGGTGGATATATT c.420
S T C M L V V L L R V Q L N I I G G Y I p.140
. . . | 06 . . . g.25626
TACCTGGATAATGCAGCAGTTGGCAAAAATGGCACT | ACAATTCTTGCTCCCCCAGATGTC c.480
Y L D N A A V G K N G T | T I L A P P D V p.160
. . . . | 07 . . g.25793
CAACAGCAGTATTTATCAAGTATTCAGCACCTACTTGGAGATG | GCCTGACAGAATTGATC c.540
Q Q Q Y L S S I Q H L L G D G | L T E L I p.180
. . . | 08 . . g.26401
ACTGTCATTAAACAAGCTGTGCAGAAGGTTTTAGGAAG | TGTTTCTCTTAAACATTCTTTG c.600
T V I K Q A V Q K V L G S | V S L K H S L p.200
. . . . . . g.26461
TCCCTTTTGGACTTGGAGCAAAAACTAAAAGAAATCAGAAATCTCGTTGAGCAGCATAAG c.660
S L L D L E Q K L K E I R N L V E Q H K p.220
. . . . . . g.26521
TCTTCTTCTTGGATTAATAAAGATGGATCCAAACCTTTATTATGCCATTATATGATGCCA c.720
S S S W I N K D G S K P L L C H Y M M P p.240
. . | 09. . . . g.29038
GATGAAGAAACTCCATTAGCAGTGCAG | GCCTGTGGACTTTCTCCTCGAGACATTACCACT c.780
D E E T P L A V Q | A C G L S P R D I T T p.260
. . . | 10 . . g.33317
ATTAAACTTCTCAATGAAACTAGAGACATGTTGGAAAG | CCCAGATTTTAGTACAGTTTTG c.840
I K L L N E T R D M L E S | P D F S T V L p.280
. . . . . . g.33377
AATACCTGTTTAAACCGAGGTTTTAGTAGACTTCTAGACAATATGGCTGAGTTCTTTCGA c.900
N T C L N R G F S R L L D N M A E F F R p.300
. . . . | 11 . . g.39390
CCTACTGAACAGGACCTGCAACATGGTAACTCTATGAATAG | TCTTTCCAGTGTCAGCCTG c.960
P T E Q D L Q H G N S M N S | L S S V S L p.320
. . . . . . g.39450
CCTTTAGCTAAGATAATTCCAATAGTAAACGGACAGATCCATTCAGTTTGCAGTGAAACA c.1020
P L A K I I P I V N G Q I H S V C S E T p.340
. | 12 . . . . g.43404
CCTAGTCATTTTGTTCAG | GATCTGTTGACAATGGAGCAAGTGAAAGACTTTGCTGCTAAT c.1080
P S H F V Q | D L L T M E Q V K D F A A N p.360
. . . . g.43446
GTGTATGAAGCTTTTAGTACCCCTCAGCAACTGGAGAAATGA c.1122
V Y E A F S T P Q Q L E K X p.373
. . . . . . g.43506
tttttccttcaagaaaaactacagtgggattcatttactttttaaaatacactgggtaaa c.*60
. . . . . . g.43566
tcacctatacttagagtaacagtttgttatcaaaatgcctgataaaatatattcttaata c.*120
. . . . . . g.43626
aaagtcttcatttcataatgaaatcaatttatttggcatcttaatatatttttttagatt c.*180
. . . . . . g.43686
catcaacagaccagtttttgtgggcatatatatatacacgtgcaaatatcagaattgtta c.*240
. . . . . . g.43746
ataatttgttacacatggacatttgttccaaactgactaaaaatcaatatagatatttta c.*300
. . . . . . g.43806
tatacatatatatatataaaaatacaaaattcagtgtactttaccatattaatactgagg c.*360
. . . . . . g.43866
aaaaatctgttggagacataggtctaggatgtgtgaagtttggaaaaatatgctatttaa c.*420
. . . . . . g.43926
ttataatgttccctagactgctgtaaacagaagtgaatcagacttttctccagctacctt c.*480
. . . . . . g.43986
tcaaaataataaattatttgtctcaaatataccttgatggaggacttttttattcttatg c.*540
. . . . . . g.44046
gaaatagtgaattccaacaactatgatgaactatgttctttgctatttcttcactatatt c.*600
. . . . . . g.44106
ttttaaggttttattaaaaagccttagaaagttacatattggtttagaggctaaaattgt c.*660
. . . . . . g.44166
gttgatgctgtttactcacctaattacatagttttaatcatttgtacataattttaaaaa c.*720
. . . . . . g.44226
cttactttgtattgattttgaatacagtgaaaatcttattgcaataaactattttagtaa c.*780
. . . . . . g.44286
aatattattttgttgagttaatatttttcagctattaatttacttatcccatagcatttt c.*840
. . . . . . g.44346
tgttattatttcggaagagagagcatgctagtttaagtttcattttaattggtcgtgtac c.*900
. . . . . . g.44406
ttggtgcttttttgttgttgttaacttgttcatttagtaaaaagcaaatagctttacttt c.*960
. . . . . . g.44466
ctgaaaaagaaataattcattatctctagtaatacatctgtaattcttcatttagaaggg c.*1020
. . . . . . g.44526
taattagggcaaaagtaaataaatcattatatatcattagtatgttgacatatattttca c.*1080
. . . . . . g.44586
gtaacattgttttatgttcctccagcgtaacatgtagctgaacagtagaaggtagaaaat c.*1140
. . . . . . g.44646
aaattatgacatctcttctaaggcctggctaggcctgaagctcactgccagggagtttgt c.*1200
. . . . . . g.44706
gtctagaatgtttttaaaaataggtagtggagccatagccctcaccatagacacctctga c.*1260
. . . . . . g.44766
gcccactggcattgtctctgagcagaagatggctgtgccactcacatatgctaatcttgg c.*1320
. . . . . . g.44826
caaatctgccaagcatgtcttcaccaagggatatggatttggcttaataaaacctgattt c.*1380
. g.44836
gaaaacaaaa c.*1390
(downstream sequence)
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