(used for variant description)
(last modified September 7, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000319.4 in the PEX5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008448.1, covering PEX5 transcript NM_000319.4.
(upstream sequence)
. g.6215
agagctggcggtcacc c.-1
. . . . . . g.6275
ATGGCAATGCGGGAGCTGGTGGAGGCCGAATGCGGGGGTGCCAACCCGCTCATGAAGCTC c.60
M A M R E L V E A E C G G A N P L M K L p.20
. . . . . . g.6335
GCCGGGCACTTCACCCAGGACAAGGCCCTTCGGCAGGAGGGATTGAGGCCTGGCCCCTGG c.120
A G H F T Q D K A L R Q E G L R P G P W p.40
. . | 02. . . . g.6758
CCCCCCGGAGCCCCGGCCTCTGAGGCA | GCCTCCAAGCCTTTGGGAGTAGCTTCTGAAGAT c.180
P P G A P A S E A | A S K P L G V A S E D p.60
| 03 . . . . . . g.7120
GAG | TTGGTGGCTGAATTCCTGCAGGACCAGAATGCACCCCTTGTGTCCCGTGCCCCTCAG c.240
E | L V A E F L Q D Q N A P L V S R A P Q p.80
. . . . . . g.7180
ACCTTCAAGATGGATGACCTCCTGGCTGAGATGCAGCAGATTGAGCAGTCAAACTTCCGC c.300
T F K M D D L L A E M Q Q I E Q S N F R p.100
. | 04 . . . . . g.7450
CAGGCTCCCCAGAGAG | CCCCTGGTGTGGCAGACTTGGCCTTGTCTGAGAACTGGGCCCAG c.360
Q A P Q R A | P G V A D L A L S E N W A Q p.120
. . . . . . g.7510
GAGTTTCTTGCAGCTGGAGATGCTGTGGATGTAACTCAGGATTATAATGAGACTGACTGG c.420
E F L A A G D A V D V T Q D Y N E T D W p.140
. . | 05 . . . g.14880
TCCCAAGAATTCATCTCTGAAGTTACAG | ACCCCTTGTCTGTGTCCCCTGCCCGCTGGGCT c.480
S Q E F I S E V T D | P L S V S P A R W A p.160
. . . . . . g.14940
GAGGAATATTTGGAGCAATCAGAGGAGAAGCTGTGGCTGGGAGAACCTGAGGGAACAGCC c.540
E E Y L E Q S E E K L W L G E P E G T A p.180
. | 06 . . . . . g.17637
ACCGATCGCTG | GTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGAC c.600
T D R W | Y D E Y H P E E D L Q H T A S D p.200
. . . . | 07 . . g.18096
TTTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAG | TTCCTGAAATTCGTGCGG c.660
F V A K V D D P K L A N S E | F L K F V R p.220
. . . . . . g.18156
CAGATTGGCGAAGGGCAGGTGTCCCTGGAGTCCGGTGCAGGGTCGGGCCGAGCTCAGGCA c.720
Q I G E G Q V S L E S G A G S G R A Q A p.240
. . . | 08 . . . g.18476
GAACAGTGGGCAGCAGAGTTTATACAGCAGCAG | GGTACATCAGATGCCTGGGTTGACCAG c.780
E Q W A A E F I Q Q Q | G T S D A W V D Q p.260
. . . . . . g.18536
TTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCT c.840
F T R P V N T S A L D M E F E R A K S A p.280
| 09 . . . . . . g.19347
ATAGAG | TTGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGG c.900
I E | L Q A E L E E M A K R D A E A H P W p.300
. . . . | 10 . . g.23514
CTTTCTGACTATGATGACCTTACGTCAGCTACCTATGATAAG | GGGTACCAGTTTGAGGAG c.960
L S D Y D D L T S A T Y D K | G Y Q F E E p.320
. . . . . . g.23574
GAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAG c.1020
E N P L R D H P Q P F E E G L R R L Q E p.340
. . . . . . g.23634
GGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCAC c.1080
G D L P N A V L L F E A A V Q Q D P K H p.360
| 11 . . . . . . g.23901
ATGGAA | GCTTGGCAGTATCTGGGTACCACCCAGGCAGAGAATGAACAAGAACTATTAGCC c.1140
M E | A W Q Y L G T T Q A E N E Q E L L A p.380
. | 12. . . . . g.24337
ATCAGTGCATTGCGGAG | GTGTCTGGAGCTAAAGCCAGATAACCAGACAGCACTGATGGCG c.1200
I S A L R R | C L E L K P D N Q T A L M A p.400
. . . . . . g.24397
CTGGCTGTGAGCTTCACCAACGAGTCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGAC c.1260
L A V S F T N E S L Q R Q A C E T L R D p.420
. . . . . . g.24457
TGGCTGCGGTACACACCAGCCTATGCCCATCTGGTGACACCTGCTGAAGAAGGGGCTGGT c.1320
W L R Y T P A Y A H L V T P A E E G A G p.440
. . . . . | 13 . g.24852
GGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGGGATCTCTCTTGTCTGA | CTCCCTGTTT c.1380
G A G L G P S K R I L G S L L S D | S L F p.460
. . . . . . g.24912
CTTGAAGTGAAAGAGCTCTTCCTGGCAGCTGTGCGGCTGGACCCTACCTCCATTGACCCT c.1440
L E V K E L F L A A V R L D P T S I D P p.480
. . . . . . g.24972
GATGTGCAGTGTGGCTTGGGAGTCCTTTTCAACCTGAGTGGGGAGTATGACAAGGCCGTG c.1500
D V Q C G L G V L F N L S G E Y D K A V p.500
. . . | 14 . . . g.25544
GACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCAAT | GACTATTTGCTGTGGAATAAGCTA c.1560
D C F T A A L S V R P N | D Y L L W N K L p.520
. . . . . . g.25604
GGCGCCACCCTGGCCAATGGAAACCAGAGTGAAGAAGCAGTAGCTGCGTACCGCCGGGCC c.1620
G A T L A N G N Q S E E A V A A Y R R A p.540
. . . . . . g.25664
CTCGAGCTCCAGCCTGGCTATATCCGGTCCCGCTATAACCTGGGCATCAGCTGCATCAAC c.1680
L E L Q P G Y I R S R Y N L G I S C I N p.560
. | 15 . . . . . g.25905
CTCGGGGCTCACCG | GGAGGCTGTGGAGCACTTTCTGGAGGCCCTGAACATGCAGAGGAAA c.1740
L G A H R | E A V E H F L E A L N M Q R K p.580
. . . . . . g.25965
AGCCGGGGCCCCCGGGGTGAAGGAGGTGCCATGTCGGAGAACATCTGGAGCACCCTGCGT c.1800
S R G P R G E G G A M S E N I W S T L R p.600
. . . . . . g.26025
TTGGCATTGTCTATGTTAGGCCAGAGCGATGCCTATGGGGCAGCCGACGCGCGGGATCTG c.1860
L A L S M L G Q S D A Y G A A D A R D L p.620
. . . g.26061
TCCACCCTCCTAACTATGTTTGGCCTGCCCCAGTGA c.1896
S T L L T M F G L P Q X p.631
. . . . . . g.26121
cagtgggacgggctgccctgtgagtgtccacctggagggatccccgctttggatgtgatt c.*60
. . . . . . g.26181
ccctctccccaaatgggcctaccaagggggcgggctgatgaccataagcggtacggcctt c.*120
. . . . . . g.26241
tcaggagctgcctcaacgtaggggtgggtagtctgtgttctagttcctacataattgtag c.*180
. . . . . . g.26301
gaaaatgagctgtgtcatctctgagtcccttggtaattcaagggctgtacatccagctac c.*240
. . . . . . g.26361
agatctctctgctcatcatgccctttcttggtgctgctttttgggtaggaccccacgatt c.*300
. . . . . . g.26421
tagggtaactgttatcatcagctgccatttctgatagggtctaccacatctgtaatgtct c.*360
. . . . . . g.26481
gtcctttcccccacttttactgggaattgatagtccagcttccttgggcagtgtaagtag c.*420
. . . . . . g.26541
gaggttcatctgctgtgcgcctctaatgtctgtctggatgggatgtgttaggagttggcc c.*480
. . . . . . g.26601
tgttgggttgaattgttgatttggctgagcagagctgagttttggtaggagtgctcatgg c.*540
. . . . . . g.26661
ttctgtcattcttggacctctcctggctgagctctgattccctgtgagcacgatgctgat c.*600
. . . . . . g.26721
gcaatagtcctgtgtcatcactgcagcggtcctcaggagctgccagggccaattgctaca c.*660
. . . . . . g.26781
gagtgtctgggtgtgtggcataggaggaaggtttgcttgtgaaatgaggctgggtgggag c.*720
. . . . . . g.26841
cggggagggactagatcagaagagatcaagggctctattcaggaacgttggtgggaggac c.*780
. . . . . . g.26901
agagcaagtgggaagggggtatggtgagtgcggcaatccctcatcctcttagaagcacct c.*840
. . . . . . g.26961
gtgaatgggaattgagccaactgttatagaaaattggttcagaaagtgcaatcttgccag c.*900
. . . . . . g.27021
atttctagcaaataggttcagtgttaccataagcctttgctgtacttcttgaaatgtttc c.*960
. . . . . . g.27081
taggggagagcattggaaaatccccttcccccatctagatcgaaggaagatgagggagca c.*1020
. . . . . . g.27141
gcttggattcttctcagttgtcccctgcatggggagatacactaacccccagaaatgact c.*1080
. . . . . . g.27201
gctaagcctcttgccttgtctttagtagctaatgatcagagagattttttttttaaacta c.*1140
. . . . . . g.27261
ccatggtcccaggattccatcctgaaatttatttttctttgtatgaatatgtgtaaatga c.*1200
. . . . . . g.27321
tttaaaaataaaactgtaaaatatttgtacgaagaataaatggaactgatgtgggtatga c.*1260
(downstream sequence)
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