(used for variant description)
(last modified August 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000785.3 in the CYP27B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007076.1, covering CYP27B1 transcript NM_000785.3.
(upstream sequence)
. . . g.5032
gggtgctaatccccagcacagaccactcagga c.-121
. . . . . . g.5092
ggagggattggctgaggagcttggagagggggcgtcatcacctcacccaaaggttaaata c.-61
. . . . . . g.5152
ggggttgagatatgatgctcaggagaagcgctttctttcgcgagcaccctgaaccagacc c.-1
. . . . . . g.5212
ATGACCCAGACCCTCAAGTACGCCTCCAGAGTGTTCCATCGCGTCCGCTGGGCGCCCGAG c.60
M T Q T L K Y A S R V F H R V R W A P E p.20
. . . . . . g.5272
TTGGGCGCCTCCCTAGGCTACCGAGAGTACCACTCAGCACGCCGGAGCTTGGCAGACATC c.120
L G A S L G Y R E Y H S A R R S L A D I p.40
. . . . . . g.5332
CCAGGCCCCTCTACGCCCAGCTTTCTGGCCGAACTTTTCTGCAAGGGGGGGCTGTCGAGG c.180
P G P S T P S F L A E L F C K G G L S R p.60
. | 02 . . . . . g.6041
CTACACGAGCTGCAG | GTGCAGGGCGCCGCGCACTTCGGGCCGGTGTGGCTAGCCAGCTTT c.240
L H E L Q | V Q G A A H F G P V W L A S F p.80
. . . . . . g.6101
GGGACAGTGCGCACCGTGTACGTGGCTGCCCCTGCACTCGTCGAGGAGCTGCTGCGACAG c.300
G T V R T V Y V A A P A L V E E L L R Q p.100
. . . . . . g.6161
GAGGGACCCCGGCCCGAGCGCTGCAGCTTCTCGCCCTGGACGGAGCACCGCCGCTGCCGC c.360
E G P R P E R C S F S P W T E H R R C R p.120
. . | 03 . . . . g.6728
CAGCGGGCTTGCGGACTGCTCACTGC | GGAAGGCGAAGAATGGCAAAGGCTCCGCAGTCTC c.420
Q R A C G L L T A | E G E E W Q R L R S L p.140
. . . . . . g.6788
CTGGCCCCGCTCCTCCTCCGGCCTCAAGCGGCCGCCCGCTACGCCGGAACCCTGAACAAC c.480
L A P L L L R P Q A A A R Y A G T L N N p.160
. . . . . . g.6848
GTAGTCTGCGACCTTGTGCGGCGTCTGAGGCGCCAGCGGGGACGTGGCACGGGGCCGCCC c.540
V V C D L V R R L R R Q R G R G T G P P p.180
. . . . | 04 . g.6993
GCCCTGGTTCGGGACGTGGCGGGGGAATTTTACAAGTTCGGACTGGAAG | GCATCGCCGCG c.600
A L V R D V A G E F Y K F G L E G | I A A p.200
. . . . . . g.7053
GTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAAGTGCCACCCGACACGGAGACC c.660
V L L G S R L G C L E A Q V P P D T E T p.220
. . . . . . g.7113
TTCATCCGCGCTGTGGGCTCGGTGTTTGTGTCCACGCTGTTGACCATGGCGATGCCCCAC c.720
F I R A V G S V F V S T L L T M A M P H p.240
. . . . . . g.7173
TGGCTGCGCCACCTTGTGCCTGGGCCCTGGGGCCGCCTCTGCCGAGACTGGGACCAGATG c.780
W L R H L V P G P W G R L C R D W D Q M p.260
. | 05 . . . . . g.7317
TTTGCATTTG | CTCAGAGGCACGTGGAGCGGCGAGAGGCAGAGGCAGCCATGAGGAACGGA c.840
F A F A | Q R H V E R R E A E A A M R N G p.280
. . . . . . g.7377
GGACAGCCCGAGAAGGACCTGGAGTCTGGGGCGCACCTGACCCACTTCCTGTTCCGGGAA c.900
G Q P E K D L E S G A H L T H F L F R E p.300
. . . . . . g.7437
GAGTTGCCTGCCCAGTCCATCCTGGGAAATGTGACAGAGTTGCTATTGGCGGGAGTGGAC c.960
E L P A Q S I L G N V T E L L L A G V D p.320
| 06 . . . . . . g.7700
ACG | GTGTCCAACACGCTCTCTTGGGCTCTGTATGAGCTCTCCCGGCACCCCGAAGTCCAG c.1020
T | V S N T L S W A L Y E L S R H P E V Q p.340
. . . . . . g.7760
ACAGCACTCCACTCAGAGATCACAGCTGCCCTGAGCCCTGGCTCCAGTGCCTACCCCTCA c.1080
T A L H S E I T A A L S P G S S A Y P S p.360
. . . . . | 07 . g.8021
GCCACTGTTCTGTCCCAGCTGCCCCTGCTGAAGGCGGTGGTCAAGGAAGTGCTAAG | ACTG c.1140
A T V L S Q L P L L K A V V K E V L R | L p.380
. . . . . . g.8081
TACCCTGTGGTACCTGGAAATTCTCGTGTCCCAGACAAAGACATTCATGTGGGTGACTAT c.1200
Y P V V P G N S R V P D K D I H V G D Y p.400
. | 08 . . . . . g.8430
ATTATCCCCAAAAAT | ACGCTGGTCACTCTGTGTCACTATGCCACTTCAAGGGACCCTGCC c.1260
I I P K N | T L V T L C H Y A T S R D P A p.420
. . . . . . g.8490
CAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCC c.1320
Q F P E P N S F R P A R W L G E G P T P p.440
. . . . . . g.8550
CACCCATTTGCATCTCTTCCCTTTGGCTTTGGCAAGCGCAGCTGTATGGGGAGACGCCTG c.1380
H P F A S L P F G F G K R S C M G R R L p.460
. . . | 09 . . . g.8965
GCAGAGCTTGAATTGCAAATGGCTTTGGCCCAG | ATCCTAACACATTTTGAGGTGCAGCCT c.1440
A E L E L Q M A L A Q | I L T H F E V Q P p.480
. . . . . . g.9025
GAGCCAGGTGCGGCCCCAGTTAGACCCAAGACCCGGACTGTCCTGGTACCTGAAAGGAGC c.1500
E P G A A P V R P K T R T V L V P E R S p.500
. . g.9052
ATCAACCTACAGTTTTTGGACAGATAG c.1527
I N L Q F L D R X p.508
. . . . . . g.9112
tcccatggaaagagactgtcatcatcaccctttcattcatcatagggataagattttttg c.*60
. . . . . . g.9172
taggcacaagaccaaggtatacatcttcccctaatgcctatctgaccaaactggatagaa c.*120
. . . . . . g.9232
ccaccatagtgaagtgtgaggcggccctgaccaatgtgtgaagtatgcacttggcctgac c.*180
. . . . . . g.9292
tcaggaagccaggtgagaaaaccatggtctctctgcttgcttggcccttctgatcatgta c.*240
. . . . . . g.9352
tgcatcccccaaggatgaaatcagattttaactaataatgctggatggcctgaggaaaga c.*300
. . . . . . g.9412
ttcaactgcctctctttttgggctttcatagtgttcattgatgctgctggctaagcattt c.*360
. . . . . . g.9472
atcaaagcataagctcagtaactgtgcatctggtctgtacctggttggtccttcgtcttt c.*420
. . . . . . g.9532
gcatgtaagctctttgagaggaagggtgaagccttatttgttttttatgtcccctgccag c.*480
. . . . . . g.9592
ggcctgtctctgactaggtgtcaccatacacattcttagattgaatctgaaccatgtggc c.*540
. . . . . . g.9652
agaagggataagcagcttacttagtaggctctgtctacccccttccttctttgtcttgcc c.*600
. . . . . . g.9712
cctaggaaggtgaatctgccctagcctggtttacggtttcttataactctcctttgctct c.*660
. . . . . . g.9772
ctggccactattaagtgggtttgccccatcacttagttctcaggcagagacatctttggg c.*720
. . . . . . g.9832
cctgtccctgcccaggcctctggctttttatattgaaaatttttaaatattcacaaattt c.*780
. . g.9860
tagaataaatcaaatattccattcttga c.*808
(downstream sequence)
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