(used for variant description)
(last modified December 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005017.2 in the PCYT1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering PCYT1A transcript NM_005017.2.
(upstream sequence)
. . . . . g.5053
cccgggcgtctccccgcaacctcctcaacttccctagtcagtgacgcggcgcc c.-121
. . . . . | 02 . g.9189
ggccagaaatccgaccggaccgggctcgggggagcgtgagttgcag | catgtgccgaagcg c.-61
. . . . . | 03 g.22182
ccacctcagaagataaaaagaaatgagtctcatatttggcattcttttag | ttaaaagaag c.-1
. . . . . . g.22242
ATGGATGCACAGTGTTCAGCCAAGGTCAATGCAAGGAAGAGGAGAAAAGAGGCGCCCGGA c.60
M D A Q C S A K V N A R K R R K E A P G p.20
. . . . . | 04. g.34829
CCCAACGGGGCAACAGAAGAAGATGGGGTTCCTTCCAAAGTGCAGCGCTGTGCAGTG | GGC c.120
P N G A T E E D G V P S K V Q R C A V | G p.40
. . . . . . g.34889
TTACGGCAACCAGCTCCTTTTTCTGATGAAATTGAAGTTGACTTTAGTAAGCCCTATGTC c.180
L R Q P A P F S D E I E V D F S K P Y V p.60
. . . | 05. . . g.44413
AGGGTAACTATGGAAGAAGCCAGCAGAGGAACTCCTT | GTGAGCGACCTGTGAGAGTTTAT c.240
R V T M E E A S R G T P C | E R P V R V Y p.80
. . . . . . g.44473
GCCGATGGAATATTTGACTTATTTCACTCTGGTCACGCCCGAGCTCTGATGCAAGCGAAG c.300
A D G I F D L F H S G H A R A L M Q A K p.100
. . . | 06 . . . g.45221
AACCTTTTCCCTAATACGTACCTCATTGTGGGAG | TTTGCAGTGATGAGCTCACACACAAC c.360
N L F P N T Y L I V G V | C S D E L T H N p.120
. . . . . . g.45281
TTCAAAGGCTTCACGGTGATGAACGAGAATGAGCGCTATGACGCAGTCCAGCACTGCCGC c.420
F K G F T V M N E N E R Y D A V Q H C R p.140
. . . . . . g.45341
TACGTGGATGAGGTGGTGAGGAATGCGCCCTGGACGCTGACACCCGAGTTCCTGGCCGAA c.480
Y V D E V V R N A P W T L T P E F L A E p.160
| 07 . . . . . . g.50127
CACCGG | ATTGATTTTGTAGCCCATGATGATATTCCTTATTCATCTGCTGGCAGTGATGAT c.540
H R | I D F V A H D D I P Y S S A G S D D p.180
. . | 08 . . . . g.50658
GTTTATAAGCACATCAAGGAGGCAG | GCATGTTTGCTCCAACACAGAGGACAGAAGGTATC c.600
V Y K H I K E A G | M F A P T Q R T E G I p.200
. . . . . . g.50718
TCCACATCAGACATCATCACCCGAATTGTGCGGGATTATGATGTGTATGCGAGGCGGAAC c.660
S T S D I I T R I V R D Y D V Y A R R N p.220
. . . . | 09 . g.52990
CTGCAGAGGGGCTACACAGCAAAGGAGCTCAATGTCAGCTTTATCAAC | GAGAAGAAATAC c.720
L Q R G Y T A K E L N V S F I N | E K K Y p.240
. . . . . . g.53050
CACTTGCAGGAGAGGGTTGACAAAGTAAAGAAGAAAGTGAAAGATGTGGAGGAAAAGTCA c.780
H L Q E R V D K V K K K V K D V E E K S p.260
. . . . . . g.53110
AAAGAATTTGTTCAGAAGGTGGAGGAAAAAAGCATTGACCTCATTCAGAAGTGGGAGGAG c.840
K E F V Q K V E E K S I D L I Q K W E E p.280
. . . . . | 10. g.53822
AAGTCCCGAGAATTCATTGGAAGTTTTCTGGAAATGTTTGGTCCGGAAGGAGCACTG | AAA c.900
K S R E F I G S F L E M F G P E G A L | K p.300
. . . . . . g.53882
CATATGCTGAAAGAGGGGAAGGGCCGGATGCTGCAGGCCATCAGCCCGAAGCAGAGCCCC c.960
H M L K E G K G R M L Q A I S P K Q S P p.320
. . . . . . g.53942
AGCAGCAGCCCTACTCGCGAGCGCTCCCCCTCCCCCTCTTTCCGATGGCCCTTCTCCGGC c.1020
S S S P T R E R S P S P S F R W P F S G p.340
. . . . . . g.54002
AAGACTTCCCCACCTTGCTCCCCAGCAAATCTCTCCAGGCACAAGGCTGCAGCCTATGAT c.1080
K T S P P C S P A N L S R H K A A A Y D p.360
. . g.54026
ATCAGTGAGGATGAAGAAGACTAA c.1104
I S E D E E D X p.367
. . . . . . g.54086
tgtttcctccctcctttcctgtcctccctttctgtcccattaccttcagaagctctctgt c.*60
. . . . . . g.54146
tgaattccaaattgtgaccccaacactaaacctaaggacagctacaaaggaaagacaact c.*120
. . . . . . g.54206
ggggaaagaagacctaggactgggggaacccaaacagcctgtcctgcaagtgacatcact c.*180
. . . . . . g.54266
cacccacacgaaggagggggactgcaccttagaagcctgctctgcatccatttacccccc c.*240
. . . . . . g.54326
cccaagggctttgtttcactgtttatgttcacgtgatctcaacagggaaattgtcatttt c.*300
g.54332
cattaa c.*306
(downstream sequence)
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