(used for variant description)
(last modified September 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000533.3 in the PLP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008863.1, covering PLP1 transcript NM_000533.3.
(upstream sequence)
. . . . . g.5365
tcaatcagaaagcccttttcattgcaggagaagaggacaaagatactcag c.-121
. . . . . . g.5425
agagaaaaagtaaaagaccgaagaaggaggctggagagaccaggatccttccagctgaac c.-61
. . . . . . g.5485
aaagtcagccacaaagcagactagccagccggctacaattggagtcagagtcccaaagac c.-1
| 02 . . . . . . g.14128
ATGG | GCTTGTTAGAGTGCTGTGCAAGATGTCTGGTAGGGGCCCCCTTTGCTTCCCTGGTG c.60
M G | L L E C C A R C L V G A P F A S L V p.20
. . . . . . g.14188
GCCACTGGATTGTGTTTCTTTGGGGTGGCACTGTTCTGTGGCTGTGGACATGAAGCCCTC c.120
A T G L C F F G V A L F C G C G H E A L p.40
. . . . . . g.14248
ACTGGCACAGAAAAGCTAATTGAGACCTATTTCTCCAAAAACTACCAAGACTATGAGTAT c.180
T G T E K L I E T Y F S K N Y Q D Y E Y p.60
. | 03 . . . . . g.15004
CTCATCAATGT | GATCCATGCCTTCCAGTATGTCATCTATGGAACTGCCTCTTTCTTCTTC c.240
L I N V | I H A F Q Y V I Y G T A S F F F p.80
. . . . . . g.15064
CTTTATGGGGCCCTCCTGCTGGCTGAGGGCTTCTACACCACCGGCGCAGTCAGGCAGATC c.300
L Y G A L L L A E G F Y T T G A V R Q I p.100
. . . . . . g.15124
TTTGGCGACTACAAGACCACCATCTGCGGCAAGGGCCTGAGCGCAACGGTAACAGGGGGC c.360
F G D Y K T T I C G K G L S A T V T G G p.120
. . . . . . g.15184
CAGAAGGGGAGGGGTTCCAGAGGCCAACATCAAGCTCATTCTTTGGAGCGGGTGTGTCAT c.420
Q K G R G S R G Q H Q A H S L E R V C H p.140
. . . | 04 . . . g.16315
TGTTTGGGAAAATGGCTAGGACATCCCGACAAG | TTTGTGGGCATCACCTATGCCCTGACC c.480
C L G K W L G H P D K | F V G I T Y A L T p.160
. . . . . . g.16375
GTTGTGTGGCTCCTGGTGTTTGCCTGCTCTGCTGTGCCTGTGTACATTTACTTCAACACC c.540
V V W L L V F A C S A V P V Y I Y F N T p.180
. . . . . . g.16435
TGGACCACCTGCCAGTCTATTGCCTTCCCCAGCAAGACCTCTGCCAGTATAGGCAGTCTC c.600
W T T C Q S I A F P S K T S A S I G S L p.200
. . | 05 . . . . g.16965
TGTGCTGATGCCAGAATGTATG | GTGTTCTCCCATGGAATGCTTTCCCTGGCAAGGTTTGT c.660
C A D A R M Y G | V L P W N A F P G K V C p.220
. . . | 06 . . . g.17847
GGCTCCAACCTTCTGTCCATCTGCAAAACAGCTGAG | TTCCAAATGACCTTCCACCTGTTT c.720
G S N L L S I C K T A E | F Q M T F H L F p.240
. . . . | 07 . . g.19034
ATTGCTGCATTTGTGGGGGCTGCAGCTACACTGGTTTCCCTG | CTCACCTTCATGATTGCT c.780
I A A F V G A A A T L V S L | L T F M I A p.260
. . . . . g.19088
GCCACTTACAACTTTGCCGTCCTTAAACTCATGGGCCGAGGCACCAAGTTCTGA c.834
A T Y N F A V L K L M G R G T K F X p.277
. . . . . . g.19148
tcccccgtagaaatccccctttctctaatagcgaggctctaaccacacagcctacaatgc c.*60
. . . . . . g.19208
tgcgtctcccatcttaactctttgcctttgccaccaactggccctcttcttacttgatga c.*120
. . . . . . g.19268
gtgtaacaagaaaggagagtcttgcagtgattaaggtctctctttggactctcccctctt c.*180
. . . . . . g.19328
atgtacctcttttagtcattttgcttcatagctggttcctgctagaaatgggaaatgcct c.*240
. . . . . . g.19388
aagaagatgacttcccaactgcaagtcacaaaggaatggaggctctaattgaattttcaa c.*300
. . . . . . g.19448
gcatctcctgaggatcagaaagtaatttcttctcaaagggtacttccactgatggaaaca c.*360
. . . . . . g.19508
aagtggaaggaaagatgctcaggtacagagaaggaatgtctttggtcctcttgccatcta c.*420
. . . . . . g.19568
taggggccaaatatattctctttggtgtacaaaatggaattcattctggtctctctatta c.*480
. . . . . . g.19628
ccactgaagatagaagaaaaaagaatgtcagaaaaacaataagagcgtttgcccaaatct c.*540
. . . . . . g.19688
gcctattgcagctgggagaagggggtcaaagcaaggatctttcacccacagaaagagagc c.*600
. . . . . . g.19748
actgaccccgatggcgatggactactgaagccctaactcagccaaccttacttacagcat c.*660
. . . . . . g.19808
aagggagcgtagaatctgtgtagacgaagggggcatctggccttacacctcgttagggaa c.*720
. . . . . . g.19868
gagaaacagggtgttgtcagcatcttctcactcccttctccttgataacagctaccatga c.*780
. . . . . . g.19928
caaccctgtggtttccaaggagctgagaatagaaggaaactagcttacatgagaacagac c.*840
. . . . . . g.19988
tggcctgaggagcagcagttgctggtggctaatggtgtaacctgagatggccctctggta c.*900
. . . . . . g.20048
gacacaggatagataactctttggatagcatgtctttttttctgttaattagttgtgtac c.*960
. . . . . . g.20108
tctggcctctgtcatatcttcacaatggtgctcatttcatgggggtattatccattcagt c.*1020
. . . . . . g.20168
catcgtaggtgatttgaaggtcttgatttgttttagaatgatgcacatttcatgtattcc c.*1080
. . . . . . g.20228
agtttgtttattacttatttggggttgcatcagaaatgtctggagaataattctttgatt c.*1140
. . . . . . g.20288
atgactgttttttaaactaggaaaattggacattaagcatcacaaatgatattaaaaatt c.*1200
. . . . . . g.20348
ggctagttgaatctattgggattttctacaagtattctgcctttgcagaaacagatttgg c.*1260
. . . . . . g.20408
tgaatttgaatctcaatttgagtaatctgatcgttctttctagctaatggaaaatgattt c.*1320
. . . . . . g.20468
tacttagcaatgttatcttggtgtgttaagagttaggtttaacataaaggttattttctc c.*1380
. . . . . . g.20528
ctgatatagatcacataacagaatgcaccagtcatcagctattcagttggtaagcttcca c.*1440
. . . . . . g.20588
ggaaaaaggacaggcagaaagagtttgagacctgaatagctcccagatttcagtcttttc c.*1500
. . . . . . g.20648
ctgtttttgttaactttgggttaaaaaaaaaaaaagtctgattggttttaattgaaggaa c.*1560
. . . . . . g.20708
agatttgtactacagttcttttgttgtaaagagttgtgttgttcttttcccccaaagtgg c.*1620
. . . . . . g.20768
tttcagcaatatttaaggagatgtaagagctttacaaaaagacacttgatacttgttttc c.*1680
. . . . . . g.20828
aaaccagtatacaagataagcttccaggctgcatagaaggaggagagggaaaatgttttg c.*1740
. . . . . . g.20888
taagaaaccaatcaagataaaggacagtgaagtaatccgtaccttgtgttttgttttgat c.*1800
. . . . . . g.20948
ttaataacataacaaataaccaacccttccctgaaaacctcacatgcatacatacacata c.*1860
. . . . . . g.21008
tatacacacacaaagagagttaatcaactgaaagtgtttccttcatttctgatatagaat c.*1920
. . . . . . g.21068
tgcaattttaacacacataaaggataaacttttagaaacttatcttacaaagtgtatttt c.*1980
. . . . g.21110
ataaaattaaagaaaataaaattaagaatgttctcaatcaaa c.*2022
(downstream sequence)
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