(used for variant description)
(last modified September 25, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000287.3 in the PEX6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008370.1, covering PEX6 transcript NM_000287.3.
(upstream sequence)
. . . g.5033
ggaagcggaagcggccctcgcgcacactagtcg c.-61
. . . . . . g.5093
tctggctctctggctccggaagctgcgctccttcaccctcctcgttggtgtcctgtcacc c.-1
. . . . . . g.5153
ATGGCGCTGGCTGTCTTGCGGGTCCTGGAGCCCTTTCCGACCGAGACACCCCCGTTGGCA c.60
M A L A V L R V L E P F P T E T P P L A p.20
. . . . . . g.5213
GTGCTGCTGCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTG c.120
V L L P P G G P W P A A E L G L V L A L p.40
. . . . . . g.5273
AGGCCTGCAGGGGAGAGCCCGGCAGGGCCGGCGCTGCTGGTGGCAGCCCTGGAGGGGCCG c.180
R P A G E S P A G P A L L V A A L E G P p.60
. . . . . . g.5333
GACGCGGGCACCGAAGAGCAGGGTCCCGGGCCGCCGCAGCTACTGGTTAGCCGCGCGCTG c.240
D A G T E E Q G P G P P Q L L V S R A L p.80
. . . . . . g.5393
CTGCGGCTCCTGGCACTGGGCTCCGGGGCCTGGGTGCGGGCGCGGGCGGTGCGGCGGCCC c.300
L R L L A L G S G A W V R A R A V R R P p.100
. . . . . . g.5453
CCGGCGCTAGGTTGGGCACTGCTTGGCACCTCGCTGGGGCCTGGGCTCGGACCGCGAGTC c.360
P A L G W A L L G T S L G P G L G P R V p.120
. . . . . . g.5513
GGGCCGCTGCTGGTGAGGCGCGGAGAGACCCTCCCAGTGCCCGGACCGCGGGTGCTGGAG c.420
G P L L V R R G E T L P V P G P R V L E p.140
. . . . . . g.5573
ACGCGGCCGGCGTTGCAAGGGCTGCTGGGCCCAGGGACTCGGCTGGCTGTGACTGAGCTC c.480
T R P A L Q G L L G P G T R L A V T E L p.160
. . . . . . g.5633
CGCGGGCGGGCCAGACTGTGTCCAGAGTCTGGGGACAGCAGTCGGCCCCCACCCCCGCCC c.540
R G R A R L C P E S G D S S R P P P P P p.180
. . . . . . g.5693
GTGGTGTCCTCCTTTGCGGTTTCTGGCACAGTGCGGCGACTCCAGGGAGTTCTGGGAGGG c.600
V V S S F A V S G T V R R L Q G V L G G p.200
. . . . . . g.5753
ACTGGAGATTCACTAGGGGTGAGCCGGAGCTGTCTCCGTGGCCTTGGCCTCTTCCAGGGC c.660
T G D S L G V S R S C L R G L G L F Q G p.220
. . . . . . g.5813
GAATGGGTGTGGGTGGCCCAGGCCAGAGAGTCATCGAACACTTCACAGCCGCACTTGGCT c.720
E W V W V A Q A R E S S N T S Q P H L A p.240
. . . . . . g.5873
AGGGTGCAGGTCCTAGAACCTCGCTGGGACCTCTCTGATAGACTGGGACCCGGCTCTGGA c.780
R V Q V L E P R W D L S D R L G P G S G p.260
. . . . . . g.5933
CCGCTGGGAGAGCCCCTCGCTGACGGACTGGCGCTTGTCCCTGCCACTTTGGCTTTTAAT c.840
P L G E P L A D G L A L V P A T L A F N p.280
. . . . | 02 . . g.9223
CTTGGCTGTGACCCCCTGGAAATGGGAGAGCTCAGAATTCAG | AGGTACTTGGAAGGCTCC c.900
L G C D P L E M G E L R I Q | R Y L E G S p.300
. . . . . . g.9283
ATCGCCCCTGAAGACAAAGGAAGCTGCTCATTGCTGCCTGGGCCTCCATTTGCCAGAGAG c.960
I A P E D K G S C S L L P G P P F A R E p.320
. . . . . . g.9343
TTACACATCGAAATTGTGTCTTCTCCCCACTACAGCACTAATGGAAATTATGACGGTGTT c.1020
L H I E I V S S P H Y S T N G N Y D G V p.340
. . | 03 . . . . g.10191
CTTTACCGGCACTTTCAGATACCCAG | GGTAGTCCAGGAAGGGGATGTTCTATGTGTGCCA c.1080
L Y R H F Q I P R | V V Q E G D V L C V P p.360
. . . . . | 04 . g.14266
ACAATTGGGCAAGTAGAGATCCTGGAAGGAAGTCCAGAGAAACTGCCCAG | GTGGCGGGAA c.1140
T I G Q V E I L E G S P E K L P R | W R E p.380
. . . . . . g.14326
ATGTTTTTTAAAGTGAAGAAAACAGTTGGGGAAGCTCCAGATGGACCAGCCAGTGCCTAC c.1200
M F F K V K K T V G E A P D G P A S A Y p.400
. . . | 05 . . . g.14469
TTGGCCGACACCACCCATACCTCCTTGTACATG | GTGGGTTCTACCCTGAGCCCTGTTCCA c.1260
L A D T T H T S L Y M | V G S T L S P V P p.420
. . . . . . g.14529
TGGCTCCCTTCAGAGGAATCCACTCTCTGGAGCAGTTTGTCTCCTCCAGGCCTGGAGGCC c.1320
W L P S E E S T L W S S L S P P G L E A p.440
. . . . | 06. . g.15271
TTGGTGTCTGAACTCTGTGCTGTCCTGAAGCCTCGCCTCCAGCCAGG | GGGTGCCCTGCTG c.1380
L V S E L C A V L K P R L Q P G | G A L L p.460
. . . . . . g.15331
ACAGGAACTAGCAGTGTCCTTCTACGGGGCCCCCCAGGCTGTGGGAAGACCACAGTAGTT c.1440
T G T S S V L L R G P P G C G K T T V V p.480
. . . | 07 . . g.15766
GCTGCTGCCTGTAGTCACCTTGGGCTCCACTTACTGAAG | GTGCCCTGCTCCAGCCTCTGT c.1500
A A A C S H L G L H L L K | V P C S S L C p.500
. . . . . . g.15826
GCAGAAAGTAGTGGGGCTGTGGAGACAAAACTGCAGGCCATCTTCTCCCGGGCCCGCCGT c.1560
A E S S G A V E T K L Q A I F S R A R R p.520
. . . . . . g.15886
TGCCGGCCTGCAGTCCTGTTGCTCACAGCTGTGGACCTTCTGGGCCGGGACCGTGATGGG c.1620
C R P A V L L L T A V D L L G R D R D G p.540
. . . . . . g.15946
CTGGGTGAGGATGCCCGTGTGATGGCTGTGCTGCGTCACCTCCTCCTCAATGAGGACCCC c.1680
L G E D A R V M A V L R H L L L N E D P p.560
| 08 . . . . . g.16732
CTCAACAG | CTGCCCTCCCCTCATGGTTGTGGCCACCACAAGCCGGGCCCAGGACCTGCCT c.1740
L N S | C P P L M V V A T T S R A Q D L P p.580
. . . . . . g.16792
GCTGATGTGCAGACAGCATTTCCTCATGAGCTCGAGGTGCCTGCTCTGTCAGAGGGGCAG c.1800
A D V Q T A F P H E L E V P A L S E G Q p.600
. . . . . . g.16852
CGGCTCAGCATCCTGCGGGCCCTCACTGCCCACCTTCCCCTGGGCCAGGAGGTGAACTTG c.1860
R L S I L R A L T A H L P L G Q E V N L p.620
. . | 09 . . . . g.17421
GCACAGCTAGCACGGCGGTGTGCA | GGCTTTGTGGTAGGGGATCTCTATGCCCTTCTGACC c.1920
A Q L A R R C A | G F V V G D L Y A L L T p.640
. . . . | 10 . . g.17605
CACAGCAGCCGGGCAGCCTGCACCAGGATCAAGAACTCAGG | TTTGGCAGGTGGCTTGACT c.1980
H S S R A A C T R I K N S G | L A G G L T p.660
. . . . . . g.17665
GAGGAGGATGAGGGGGAGCTGTGTGCTGCCGGCTTTCCTCTCCTGGCTGAGGACTTTGGG c.2040
E E D E G E L C A A G F P L L A E D F G p.680
. . . . . | 11 . g.17802
CAGGCACTGGAGCAACTGCAGACAGCTCACTCCCAGGCCGTTGGAGCCCCCAAG | ATCCCC c.2100
Q A L E Q L Q T A H S Q A V G A P K | I P p.700
. . . . . . g.17862
TCAGTGTCCTGGCATGATGTGGGTGGGCTGCAGGAGGTGAAGAAGGAGATCCTGGAGACC c.2160
S V S W H D V G G L Q E V K K E I L E T p.720
. . . . . . g.17922
ATTCAGCTCCCCCTGGAGCACCCTGAGCTACTGAGCCTGGGCCTGAGACGCTCAGGCCTT c.2220
I Q L P L E H P E L L S L G L R R S G L p.740
. . . . . . g.17982
CTGCTCCATGGGCCCCCTGGCACCGGCAAGACCCTTCTGGCCAAGGCAGTAGCCACTGAG c.2280
L L H G P P G T G K T L L A K A V A T E p.760
. . | 12 . . . . g.18178
TGCAGCCTTACCTTCCTCAG | CGTGAAGGGGCCAGAGCTCATTAACATGTATGTGGGCCAA c.2340
C S L T F L S | V K G P E L I N M Y V G Q p.780
. . | 13 . . . . g.18492
AGTGAGGAGAATGTGCGGGAAG | TGTTTGCCAGGGCCAGGGCTGCAGCTCCATGCATTATC c.2400
S E E N V R E V | F A R A R A A A P C I I p.800
. . . . . . g.18552
TTCTTTGATGAACTGGACTCTTTGGCCCCAAGCCGGGGGCGAAGTGGAGATTCTGGAGGA c.2460
F F D E L D S L A P S R G R S G D S G G p.820
. | 14 . . . . . g.18924
GTGATGGACAG | GGTGGTGTCTCAGCTCCTTGCCGAGCTAGATGGGCTGCACAGCACTCAG c.2520
V M D R | V V S Q L L A E L D G L H S T Q p.840
. . . . . . g.18984
GATGTGTTTGTGATTGGAGCCACCAACAGACCAGATCTCCTGGACCCTGCCCTTCTGCGG c.2580
D V F V I G A T N R P D L L D P A L L R p.860
| 15 . . . . . g.19143
CCTGGCAG | ATTTGACAAGCTGGTGTTTGTGGGGGCAAATGAGGACCGGGCCTCCCAGCTA c.2640
P G R | F D K L V F V G A N E D R A S Q L p.880
. . | 16 . . . . g.19348
CGCGTTCTAAGTGCCATCACACGCAA | ATTCAAGCTAGAGCCATCTGTGAGCCTGGTAAAC c.2700
R V L S A I T R K | F K L E P S V S L V N p.900
. . . . . . g.19408
GTGCTAGATTGCTGCCCTCCCCAGCTGACGGGCGCGGACCTCTACTCTCTCTGCTCTGAT c.2760
V L D C C P P Q L T G A D L Y S L C S D p.920
. . . . | 17 . . g.19786
GCTATGACAGCTGCCCTCAAACGCAGGGTTCATGACCTGGAGGAAG | GGCTGGAGCCAGGT c.2820
A M T A A L K R R V H D L E E G | L E P G p.940
. . . . . . g.19846
AGCTCAGCACTGATGCTCACCATGGAGGACTTGCTGCAGGCTGCCGCCCGGCTGCAACCC c.2880
S S A L M L T M E D L L Q A A A R L Q P p.960
. . . . . . g.19906
TCAGTCAGTGAGCAGGAGCTGCTCCGGTACAAGCGCATCCAGCGCAAGTTTGCTGCCTGC c.2940
S V S E Q E L L R Y K R I Q R K F A A C p.980
g.19909
TAG c.2943
X p.980
. . . . . . g.19969
gagccccccagggtctgggaccccgctcagcatggctgcaggtaccttgatagcccacag c.*60
. . . . . . g.20029
agagatctgggaaggaagggctcctcctcaggctgctgccaacccacctggaggccacct c.*120
. . . . . . g.20089
ccctccaggagatcccagggtgcaaagtggcattgagacagcagcaacagctcaagagat c.*180
. . . . . . g.20149
atctcctgcctacttgcccctccttccaggccggctctaagagaaaggcccatctactca c.*240
. . . . . . g.20209
ggaagagggccagggccttgggttctggggattgggccctgagagggctagttctgtggc c.*300
. . . . . . g.20269
tgaaaataaagcatgtcccgccccctactggtgttgtggcatgaaaggttggagtgagaa c.*360
. . . . . . g.20329
agagcagggttgtgggaggagtaagccctgggagagggtgggggggtgggcagcatggga c.*420
. . . . g.20371
gcctgatccttctgacataaataaacacaatgcatgcaggaa c.*462
(downstream sequence)
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