(used for variant description)
(last modified May 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_057095.1 in the CYP3A43 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007935.1, covering CYP3A43 transcript NM_057095.1.
(upstream sequence)
. . . . g.5043
acctctgggcagagaaacaaagctctatatgcacagcccagca c.-61
. . . . . . g.5103
aagagcagcacacagctgaaagaaaaactcagaagacagagctgaaaaagaaaactggtg c.-1
. . . . . . g.5163
ATGGATCTCATTCCAAACTTTGCCATGGAAACATGGGTTCTTGTGGCTACCAGCCTGGTA c.60
M D L I P N F A M E T W V L V A T S L V p.20
. | 02 . . . . . g.13489
CTCCTCTATAT | TTATGGGACCCATTCACATAAACTTTTTAAGAAGCTGGGAATTCCTGGG c.120
L L Y I | Y G T H S H K L F K K L G I P G p.40
. . . . | 03 . . g.16122
CCAACCCCTCTGCCTTTTCTGGGAACTATTTTGTTCTACCTTAGG | GGTCTTTGGAATTTT c.180
P T P L P F L G T I L F Y L R | G L W N F p.60
. . . | 04 . . g.21152
GACAGAGAATGTAATGAAAAATACGGAGAAATGTGGGG | GCTGTATGAGGGGCAACAGCCC c.240
D R E C N E K Y G E M W G | L Y E G Q Q P p.80
. . . . . . g.21212
ATGCTGGTCATCATGGATCCCGACATGATCAAAACAGTGTTAGTGAAAGAATGTTACTCT c.300
M L V I M D P D M I K T V L V K E C Y S p.100
. | 05 . . . . g.24517
GTCTTCACAAACCAGATG | CCTTTAGGTCCAATGGGATTTCTGAAAAGTGCCTTAAGTTTT c.360
V F T N Q M | P L G P M G F L K S A L S F p.120
. . . . . . g.24577
GCTGAAGATGAAGAATGGAAGAGAATACGAACATTGCTATCTCCAGCTTTCACCAGTGTA c.420
A E D E E W K R I R T L L S P A F T S V p.140
. | 06 . . . . . g.25201
AAATTCAAGGAA | ATGGTCCCCATCATTTCCCAATGTGGAGATATGTTGGTGAGAAGCCTG c.480
K F K E | M V P I I S Q C G D M L V R S L p.160
. . . . | 07 . . g.26552
AGGCAGGAAGCAGAGAACAGCAAGTCCATCAACTTGAAAGA | TTTCTTTGGGGCCTACACC c.540
R Q E A E N S K S I N L K D | F F G A Y T p.180
. . . . . . g.26612
ATGGATGTAATCACTGGCACATTATTTGGAGTGAACTTGGATTCTCTCAACAATCCACAA c.600
M D V I T G T L F G V N L D S L N N P Q p.200
. . . . . . g.26672
GATCCCTTTCTGAAAAATATGAAGAAGCTTTTAAAATTGGATTTTTTGGATCCCTTTTTA c.660
D P F L K N M K K L L K L D F L D P F L p.220
. | 08 . . . . . g.32628
CTCTTAATAT | CACTCTTTCCATTTCTTACCCCAGTTTTTGAAGCCCTAAATATCGGTTTG c.720
L L I S | L F P F L T P V F E A L N I G L p.240
. . . . . . g.32688
TTTCCAAAAGATGTTACCCATTTTTTAAAAAATTCCATTGAAAGGATGAAAGAAAGTCGC c.780
F P K D V T H F L K N S I E R M K E S R p.260
. | 09 . . . . g.33862
CTCAAAGATAAACAAAAG | CATCGAGTAGATTTCTTTCAACAGATGATCGACTCCCAGAAT c.840
L K D K Q K | H R V D F F Q Q M I D S Q N p.280
. . | 10 . . . . g.36852
TCCAAAGAAACAAAGTCCCATAAAG | CTCTGTCTGATCTGGAGCTTGTGGCCCAGTCAATT c.900
S K E T K S H K A | L S D L E L V A Q S I p.300
. . . . . . g.36912
ATCATCATTTTTGCTGCCTATGACACAACTAGCACCACTCTCCCCTTCATTATGTATGAA c.960
I I I F A A Y D T T S T T L P F I M Y E p.320
. . . . . . g.36972
CTGGCCACTCACCCTGATGTCCAGCAGAAACTGCAGGAGGAGATTGACGCAGTTTTACCC c.1020
L A T H P D V Q Q K L Q E E I D A V L P p.340
| 11 . . . . . . g.38654
AATAAG | GCACCTGTCACCTACGATGCCCTGGTACAGATGGAGTACCTTGACATGGTGGTG c.1080
N K | A P V T Y D A L V Q M E Y L D M V V p.360
. . . . . . g.38714
AATGAAACGCTCAGATTATTCCCAGTTGTTAGTAGAGTTACGAGAGTCTGCAAGAAAGAT c.1140
N E T L R L F P V V S R V T R V C K K D p.380
. . . . . . g.38774
ATTGAAATCAATGGAGTGTTCATTCCCAAAGGGTTAGCAGTGATGGTTCCAATCTATGCT c.1200
I E I N G V F I P K G L A V M V P I Y A p.400
. . . . . | 12 . g.40531
CTTCACCATGACCCAAAGTACTGGACAGAGCCTGAGAAGTTCTGCCCTGAAAG | GTTCAGT c.1260
L H H D P K Y W T E P E K F C P E R | F S p.420
. . . . . . g.40591
AAGAAGAACAAGGACAGCATAGATCTTTACAGATACATACCTTTTGGAGCTGGACCCCGA c.1320
K K N K D S I D L Y R Y I P F G A G P R p.440
. . . . . . g.40651
AACTGCATTGGCATGAGGTTTGCTCTCACAAACATAAAACTTGCTGTCATTAGAGCACTG c.1380
N C I G M R F A L T N I K L A V I R A L p.460
. . . | 13 . . . g.42917
CAGAACTTCTCCTTCAAACCTTGTAAAGAGACTCAG | ATCCCACTGAAATTAGACAATCTA c.1440
Q N F S F K P C K E T Q | I P L K L D N L p.480
. . . . . . g.42977
CCAATTCTTCAACCAGAAAAACCTATTGTTCTAAAAGTGCACTTAAGAGATGGGATTACA c.1500
P I L Q P E K P I V L K V H L R D G I T p.500
. g.42989
AGTGGACCCTGA c.1512
S G P X p.503
. . . . . . g.43049
ctttccctaaggacttccactttgttcaagaaagctgtatcccagaacactagacacttc c.*60
. . . . . . g.43109
aaattgttttgtgaataaaactcagaaatgaagatgagcttaattaacctagtatactgg c.*120
. . . . . . g.43169
gtgaataattagaaattctctacattcattgagctctcattgtctgggtagagtattaca c.*180
. . . . . . g.43229
cgttgcatactacaaagcaggtgacaaatcaatgccaaataagtacagtcatcttctcta c.*240
. . . . . . g.43289
gttctcataagactatctccccgccacctatagttagtaccctcaagtcctcctgagctg c.*300
. . . . . . g.43349
tgatcagagaataaacatttctcaacaattttaccaacaatttttaatgaaaaggaaaat c.*360
. . . . . . g.43409
tatacttgtgattctcgtagtgacatttatattacatgttccatttgtgatattctataa c.*420
. . . . . . g.43469
taagtattatattgagaaagtcaacaagcacctctttacaaaactgttatctgatgtctt c.*480
. . . . . . g.43529
cctgcatattaaggatgaatctacagaattagatcaataaggatcaacaaataaatattt c.*540
g.43538
ttggtcatt c.*549
(downstream sequence)
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