(used for variant description)
(last modified December 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000941.2 in the POR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008930.1, covering POR transcript NM_000941.2.
(upstream sequence)
. . g.5022
gaaggcggtggtagcgcctcag c.-61
. . . . . . | 02 g.43891
tggtgtgggcctgagccctgcccaggtgcccgcagagagcagccgggctgccagcg | tttc c.-1
. . . . . . g.43951
ATGATCAACATGGGAGACTCCCACGTGGACACCAGCTCCACCGTGTCCGAGGCGGTGGCC c.60
M I N M G D S H V D T S S T V S E A V A p.20
. . . . . . g.44011
GAAGAAGTATCTCTTTTCAGCATGACGGACATGATTCTGTTTTCGCTCATCGTGGGTCTC c.120
E E V S L F S M T D M I L F S L I V G L p.40
. . . . . . g.44071
CTAACCTACTGGTTCCTCTTCAGAAAGAAAAAAGAAGAAGTCCCCGAGTTCACCAAAATT c.180
L T Y W F L F R K K K E E V P E F T K I p.60
| 03 . . . . | 04. g.69352
CAGACATT | GACCTCCTCTGTCAGAGAGAGCAGCTTTGTGGAAAAGATGAAGAAAACG | GGG c.240
Q T L | T S S V R E S S F V E K M K K T | G p.80
. . . . . . g.69412
AGGAACATCATCGTGTTCTACGGCTCCCAGACGGGGACTGCAGAGGAGTTTGCCAACCGC c.300
R N I I V F Y G S Q T G T A E E F A N R p.100
. . . . . . g.69472
CTGTCCAAGGACGCCCACCGCTACGGGATGCGAGGCATGTCAGCGGACCCTGAGGAGTAT c.360
L S K D A H R Y G M R G M S A D P E E Y p.120
| 05 . . . . . . g.70291
GACCTG | GCCGACCTGAGCAGCCTGCCAGAGATCGACAACGCCCTGGTGGTTTTCTGCATG c.420
D L | A D L S S L P E I D N A L V V F C M p.140
. . . . . . g.70351
GCCACCTACGGTGAGGGAGACCCCACCGACAATGCCCAGGACTTCTACGACTGGCTGCAG c.480
A T Y G E G D P T D N A Q D F Y D W L Q p.160
. . . | 06 . . . g.70970
GAGACAGACGTGGATCTCTCTGGGGTCAAGTTCGCG | GTGTTTGGTCTTGGGAACAAGACC c.540
E T D V D L S G V K F A | V F G L G N K T p.180
. . . . . . g.71030
TACGAGCACTTCAATGCCATGGGCAAGTACGTGGACAAGCGGCTGGAGCAGCTCGGCGCC c.600
Y E H F N A M G K Y V D K R L E Q L G A p.200
. . . . | 07 . . g.71434
CAGCGCATCTTTGAGCTGGGGTTGGGCGACGACGATGGGAA | CTTGGAGGAGGACTTCATC c.660
Q R I F E L G L G D D D G N | L E E D F I p.220
. . . . . . g.71494
ACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGC c.720
T W R E Q F W P A V C E H F G V E A T G p.240
. | 08 . . . . . g.72171
GAGGAGTCCAG | CATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAG c.780
E E S S | I R Q Y E L V V H T D I D A A K p.260
. . . . . | 09 . g.73428
GTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGAGAACCAGAAGCC | CCCCTTTGAT c.840
V Y M G E M G R L K S Y E N Q K P | P F D p.280
. . . . . . g.73488
GCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAG c.900
A K N P F L A A V T T N R K L N Q G T E p.300
. . . . | 10. . g.73649
CGCCACCTCATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAG | GTATGAATCTGGG c.960
R H L M H L E L D I S D S K I R | Y E S G p.320
. . . . . . g.73709
GACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATC c.1020
D H V A V Y P A N D S A L V N Q L G K I p.340
. . . . | 11 . . g.74689
CTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATG | AGGAGTCCAACAAG c.1080
L G A D L D V V M S L N N L D E | E S N K p.360
. . . . . . g.74749
AAGCACCCATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATC c.1140
K H P F P C P T S Y R T A L T Y Y L D I p.380
. . . . . . g.74809
ACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGCGCAGTACGCCTCGGAGCCCTCG c.1200
T N P P R T N V L Y E L A Q Y A S E P S p.400
. . . . | 12 . g.74968
GAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAG | GAGCTGTACCTG c.1260
E Q E L L R K M A S S S G E G K | E L Y L p.420
. . . . . . g.75028
AGCTGGGTGGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTG c.1320
S W V V E A R R H I L A I L Q D C P S L p.440
. . . . . . g.75088
CGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCGCCTGCAGGCCCGCTACTACTCC c.1380
R P P I D H L C E L L P R L Q A R Y Y S p.460
. | 13 . . . . g.75519
ATCGCCTCATCCTCCAAG | GTCCACCCCAACTCTGTGCACATCTGTGCGGTGGTTGTGGAG c.1440
I A S S S K | V H P N S V H I C A V V V E p.480
. . . . . . g.75579
TACGAGACCAAGGCTGGCCGCATCAACAAGGGCGTGGCCACCAACTGGCTGCGGGCCAAG c.1500
Y E T K A G R I N K G V A T N W L R A K p.500
. . . . . . g.75639
GAGCCTGCCGGGGAGAACGGCGGCCGTGCGCTGGTGCCCATGTTCGTGCGCAAGTCCCAG c.1560
E P A G E N G G R A L V P M F V R K S Q p.520
. . . . . . g.75699
TTCCGCCTGCCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGTG c.1620
F R L P F K A T T P V I M V G P G T G V p.540
. . . . | 14 . g.75832
GCACCCTTCATAGGCTTCATCCAGGAGCGGGCCTGGCTGCGACAGCAGG | GCAAGGAGGTG c.1680
A P F I G F I Q E R A W L R Q Q G | K E V p.560
. . . . . . g.75892
GGGGAGACGCTGCTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTACCGGGAG c.1740
G E T L L Y Y G C R R S D E D Y L Y R E p.580
. . . . . . g.75952
GAGCTGGCGCAGTTCCACAGGGACGGTGCGCTCACCCAGCTCAACGTGGCCTTCTCCCGG c.1800
E L A Q F H R D G A L T Q L N V A F S R p.600
. | 15 . . . . . g.76102
GAGCAGTCCCACAAG | GTCTACGTCCAGCACCTGCTAAAGCAAGACCGAGAGCACCTGTGG c.1860
E Q S H K | V Y V Q H L L K Q D R E H L W p.620
. . . | 16 . . g.76257
AAGTTGATCGAAGGCGGTGCCCACATCTACGTCTGTGG | GGATGCACGGAACATGGCCAGG c.1920
K L I E G G A H I Y V C G | D A R N M A R p.640
. . . . . . g.76317
GATGTGCAGAACACCTTCTACGACATCGTGGCTGAGCTCGGGGCCATGGAGCACGCGCAG c.1980
D V Q N T F Y D I V A E L G A M E H A Q p.660
. . . . . . g.76377
GCGGTGGACTACATCAAGAAACTGATGACCAAGGGCCGCTACTCCCTGGACGTGTGGAGC c.2040
A V D Y I K K L M T K G R Y S L D V W S p.680
g.76380
TAG c.2043
X p.680
. . . . . . g.76440
gggcctgcctgccccacccaccccacagactccggcctgtaatcagctctcctggctccc c.*60
. . . . . . g.76500
tcccgtagtctcctgggtgtgtttggcttggccttggcatgggcgcaggcccagtgacaa c.*120
. . . . . . g.76560
agactcctctgggcctggggtgcatcctcctcagcccccaggccaggtgaggtccaccgg c.*180
. . . . . . g.76620
cccctggcagcacagcccagggcctgcatgggggcaccgggctccatgcctctggaggcc c.*240
. . . . . . g.76680
tctggccctcggtggctgcacagaagggctctttctctctgctgagctgggcccagcccc c.*300
. . . . . . g.76740
tccacgtgatttccagtgagtgtaaataattttaaataacctctggcccttggaataaag c.*360
. g.76754
ttctgttttctgta c.*374
(downstream sequence)
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