(used for variant description)
(last modified September 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000288.3 in the PEX7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008462.1, covering PEX7 transcript NM_000288.3.
(upstream sequence)
. . . . g.5042
acttccgtccggtctgcctggtctctctaaccgcgccagtgt c.-61
. . . . . . g.5102
gcctccgactcggaacggcttccgcggccggggcagcgagggccgggggcggcgggcggg c.-1
. . . . . . g.5162
ATGAGTGCGGTGTGCGGTGGAGCGGCGCGGATGCTGCGGACGCCGGGACGCCACGGCTAC c.60
M S A V C G G A A R M L R T P G R H G Y p.20
. . . . . . g.5222
GCCGCCGAGTTCTCCCCGTACCTGCCGGGCCGCCTGGCCTGCGCCACCGCGCAGCACTAC c.120
A A E F S P Y L P G R L A C A T A Q H Y p.40
. | 02 . . . . . g.7700
GGCATCGCGG | GCTGTGGAACCCTACTAATATTGGATCCAGATGAAGCTGGGCTAAGGCTT c.180
G I A G | C G T L L I L D P D E A G L R L p.60
| 03 . . . . . g.8807
TTTAGAAG | CTTTGACTGGAATGATGGTTTGTTTGATGTGACTTGGAGTGAGAACAACGAA c.240
F R S | F D W N D G L F D V T W S E N N E p.80
. . . . . . g.8867
CATGTCCTCATCACCTGTAGTGGCGATGGCTCGCTGCAGCTCTGGGACACTGCCAAAGCT c.300
H V L I T C S G D G S L Q L W D T A K A p.100
. . . | 04 . . g.28072
GCAGGGCCACTGCAAGTCTATAAAGAACACGCTCAGGAG | GTGTATAGTGTTGATTGGAGC c.360
A G P L Q V Y K E H A Q E | V Y S V D W S p.120
. . . . . | 05. g.28512
CAAACCAGAGGTGAACAGCTTGTGGTGTCTGGCTCATGGGATCAAACTGTCAAATTG | TGG c.420
Q T R G E Q L V V S G S W D Q T V K L | W p.140
. . . . . . g.28572
GATCCAACTGTTGGAAAGTCTCTGTGCACCTTTAGAGGCCATGAAAGTATTATTTATAGC c.480
D P T V G K S L C T F R G H E S I I Y S p.160
. . . . | 06 . . g.49077
ACAATCTGGTCTCCCCACATCCCTGGTTGTTTTGCTTCAGCCTCAG | GTGATCAGACTCTG c.540
T I W S P H I P G C F A S A S G | D Q T L p.180
. . . . . . g.49137
AGAATATGGGATGTGAAGGCAGCAGGAGTAAGAATCGTGATTCCTGCACATCAGGCAGAA c.600
R I W D V K A A G V R I V I P A H Q A E p.200
. . . | 07 . . . g.52353
ATCTTGAGTTGTGACTGGTGTAAATACAATGAG | AATTTGCTGGTGACCGGGGCGGTTGAC c.660
I L S C D W C K Y N E | N L L V T G A V D p.220
. . . . . . g.52413
TGTAGTTTGAGAGGCTGGGACTTAAGGAATGTACGACAACCAGTGTTTGAACTTCTTGGT c.720
C S L R G W D L R N V R Q P V F E L L G p.240
. . | 08. . . . g.54667
CATACCTATGCTATTAGGAGGGTGAAA | TTTTCACCATTTCATGCTTCTGTGCTGGCCTCT c.780
H T Y A I R R V K | F S P F H A S V L A S p.260
. . | 09 . . . . g.80615
TGCTCGTATGATTTTACTGTAAG | ATTCTGGAACTTTTCAAAGCCTGACTCTCTTCTTGAA c.840
C S Y D F T V R | F W N F S K P D S L L E p.280
. . . . . . g.80675
ACAGTGGAGCATCATACAGAGTTTACTTGTGGTTTAGACTTCAGTCTTCAGAGCCCCACT c.900
T V E H H T E F T C G L D F S L Q S P T p.300
| 10 . . . . . . g.95951
CAG | GTGGCTGACTGTTCTTGGGATGAAACAATAAAGATCTATGACCCTGCTTGTCTTACT c.960
Q | V A D C S W D E T I K I Y D P A C L T p.320
. g.95963
ATTCCTGCTTGA c.972
I P A X p.323
. . . . . . g.96023
gatacactactttggtcagaaacagaggatgttggctgaagaactgcctaacagcaaata c.*60
. . . . . . g.96083
aattaactatggaaaacatagacattatgcttttatatgctattcagatttcaaatcttt c.*120
. . . . . . g.96143
ccaatttaccctggaatcagttttgagggagctgataaagactttagctgactcgttaag c.*180
. . . . . . g.96203
cctgatacataagccatatttaaaattctaagaaataattaatgttatgatatatcttgt c.*240
. . . . . . g.96263
agtatctattaaaatgtctctgggtcataaaatggattaaaatatgggagatcagtaggt c.*300
. . . . . . g.96323
tatacttatatagatagtgatatatttcatttttaatttgtcatttttgatgtaaaatat c.*360
. . . . g.96371
aatcactgctgtgataaataaactatctattgatcatttatcatttta c.*408
(downstream sequence)
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