(used for variant description)
(last modified October 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_016335.4 in the PRODH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008226.2, covering PRODH transcript NM_016335.4.
(upstream sequence)
. . g.5024
ggtctcactctgttgctgtcttca c.-181
. . . . . . g.5084
cggagagcaggagcagaggctttgagaagccagtgggccttggcctcagccctgccggca c.-121
. . . . . . g.5144
gagggtccccaccatgcagctgaagtgccagggtgcttgtgaagtctaagcccttgtctg c.-61
. . | 02 . . . g.5266
gcatttgtcaggaatatagg | cgcacacttaagcggcccgggcgggtaccgccgtcccgcc c.-1
. . . . . . g.5326
ATGGCTCTGAGGCGCGCCCTGCCCGCGCTGCGCCCCTGCATTCCCCGCTTCGTCCCGCTG c.60
M A L R R A L P A L R P C I P R F V P L p.20
. . . . . . g.5386
TCCACGGCGCCGGCCTCCCGCGAGCAGCCCGCAGCGGGCCCAGCGGCCGTGCCAGGAGGT c.120
S T A P A S R E Q P A A G P A A V P G G p.40
. . . . . . g.5446
GGGTCGGCCACGGCAGTGCGGCCGCCGGTGCCCGCCGTGGACTTCGGCAACGCGCAGGAG c.180
G S A T A V R P P V P A V D F G N A Q E p.60
. . . . . . g.5506
GCGTACCGCAGCCGGCGAACCTGGGAGCTGGCGCGGAGCCTGCTGGTGCTGCGCTTGTGC c.240
A Y R S R R T W E L A R S L L V L R L C p.80
. . . | 03 . . . g.10382
GCCTGGCCCGCGCTGCTGGCGCGCCACGAGCAG | CTGCTGTATGTTTCCAGGAAACTTCTA c.300
A W P A L L A R H E Q | L L Y V S R K L L p.100
. . . . . . g.10442
GGACAGAGGCTATTCAACAAGCTCATGAAGATGACCTTCTATGGGCATTTTGTAGCCGGG c.360
G Q R L F N K L M K M T F Y G H F V A G p.120
. . . . . . g.10502
GAGGACCAGGAGTCCATCCAGCCCCTGCTTCGGCACTACAGGGCCTTCGGTGTCAGCGCC c.420
E D Q E S I Q P L L R H Y R A F G V S A p.140
. . . . . . g.10562
ATCCTGGACTATGGAGTGGAGGAGGACCTGAGCCCCGAGGAGGCAGAGCACAAGGAGATG c.480
I L D Y G V E E D L S P E E A E H K E M p.160
| 04 . . . | 05. . . g.16376
GA | GTCCTGCACCTCAGCTGCGGAGAGGGATGGCAGTG | GCACGAATAAGCGGGACAAGCAA c.540
E | S C T S A A E R D G S G | T N K R D K Q p.180
. . . . . . g.16436
TACCAGGCCCACCGGGCCTTCGGGGACCGCAGGAATGGTGTCATCAGTGCCCGCACCTAC c.600
Y Q A H R A F G D R R N G V I S A R T Y p.200
. . . . . . g.16496
TTCTACGCCAATGAGGCCAAGTGCGACAGCCACATGGAGACATTCTTGCGCTGCATCGAA c.660
F Y A N E A K C D S H M E T F L R C I E p.220
| 06. . . . . . g.18427
GCCTCAG | GTAGAGTCAGCGATGACGGCTTCATAGCCATTAAGCTCACAGCACTGGGGAGA c.720
A S G | R V S D D G F I A I K L T A L G R p.240
. | 07 . . . . . g.18668
CCCCAGTTTCTG | CTGCAGTTCTCAGAGGTGCTGGCCAAGTGGAGGTGCTTCTTTCACCAA c.780
P Q F L | L Q F S E V L A K W R C F F H Q p.260
. . . . . . g.18728
ATGGCTGTGGAGCAAGGGCAGGCGGGCCTGGCTGCCATGGACACCAAGCTGGAGGTGGCG c.840
M A V E Q G Q A G L A A M D T K L E V A p.280
| 08 . . . . . g.19200
GTGCTGCAG | GAAAGTGTCGCAAAGTTGGGCATCGCATCCAGGGCTGAGATTGAGGACTGG c.900
V L Q | E S V A K L G I A S R A E I E D W p.300
. . | 09 . . . g.20161
TTCACGGCAGAGACCCTGGGAGTGTCTGG | CACCATGGACCTGCTGGACTGGAGCAGCCTC c.960
F T A E T L G V S G | T M D L L D W S S L p.320
. . . . . | 10 . g.21764
ATCGACAGCAGGACCAAGCTGTCCAAGCACTTGGTAGTCCCCAACGCACAG | ACAGGACAG c.1020
I D S R T K L S K H L V V P N A Q | T G Q p.340
. . . . . . g.21824
CTGGAGCCCCTGCTGTCCCGGTTCACTGAGGAGGAGGAGCTACAGATGACCAGGATGCTA c.1080
L E P L L S R F T E E E E L Q M T R M L p.360
. . | 11 . . . . g.21992
CAGCGGATGGATGTCCTGGCCAAG | AAAGCCACAGAGATGGGCGTGCGGCTGATGGTGGAT c.1140
Q R M D V L A K | K A T E M G V R L M V D p.380
. . . . . . g.22052
GCCGAGCAGACCTACTTCCAGCCGGCCATCAGCCGCCTGACGCTGGAGATGCAGCGGAAG c.1200
A E Q T Y F Q P A I S R L T L E M Q R K p.400
. . . . . | 12 . g.23071
TTCAATGTGGAGAAGCCGCTCATCTTCAACACATACCAGTGCTACCTCAAG | GATGCCTAT c.1260
F N V E K P L I F N T Y Q C Y L K | D A Y p.420
. . . . . . g.23131
GACAATGTGACCCTGGACGTGGAGCTGGCTCGCCGTGAGGGCTGGTGTTTTGGGGCCAAG c.1320
D N V T L D V E L A R R E G W C F G A K p.440
. . . . . . g.23191
CTGGTGCGGGGCGCATACCTGGCCCAGGAGCGAGCCCGTGCGGCAGAGATCGGCTATGAG c.1380
L V R G A Y L A Q E R A R A A E I G Y E p.460
. . . . | 13. . g.24578
GACCCCATCAACCCCACGTACGAGGCCACCAACGCCATGTACCACAG | GTGCCTGGACTAC c.1440
D P I N P T Y E A T N A M Y H R | C L D Y p.480
. . . . . . g.24638
GTGTTGGAGGAGCTGAAGCACAACGCCAAGGCCAAGGTGATGGTGGCCTCCCACAATGAG c.1500
V L E E L K H N A K A K V M V A S H N E p.500
. . | 14 . . . . g.28061
GACACAGTGCGCTTTGCACTGCGCAG | GATGGAGGAGCTGGGCCTGCATCCTGCTGACCAC c.1560
D T V R F A L R R | M E E L G L H P A D H p.520
. . . . . | 15 . g.28196
CAGGTGTACTTTGGACAGCTGCTAGGCATGTGTGACCAGATCAGCTTCCCGCTGG | GCCAG c.1620
Q V Y F G Q L L G M C D Q I S F P L G | Q p.540
. . . . . . g.28256
GCCGGCTACCCCGTGTACAAGTACGTGCCCTATGGCCCCGTGATGGAGGTGCTGCCCTAC c.1680
A G Y P V Y K Y V P Y G P V M E V L P Y p.560
. . . . . . g.28316
TTGTCCCGCCGTGCCCTGGAGAACAGCAGCCTCATGAAGGGCACCCATCGGGAGCGGCAG c.1740
L S R R A L E N S S L M K G T H R E R Q p.580
. . . . . . g.28376
CTGCTGTGGCTGGAGCTCTTGAGGCGGCTCCGAACTGGCAACCTCTTCCATCGCCCTGCC c.1800
L L W L E L L R R L R T G N L F H R P A p.600
g.28379
TAG c.1803
X p.600
. . . . . . g.28439
cacccgccagcacacccttagcctccagcaccccccgcccccgcccaggccatcaccaca c.*60
. . . . . . g.28499
gctgcagccaaccccatcctcacacagattcaccttttttcaccccacacttgcagagct c.*120
. . . . . . g.28559
gctggaggtgaggtcaggtgcctcccagccctgcccagagtatgggcactcaggtgtggg c.*180
. . . . . . g.28619
ccgaacctgatacctgcctgggacagccactggaaacttttgggaactctcctcgaatgt c.*240
. . . . . . g.28679
gtgggcccaaggcccccacctctgtgacccccatgtccttggacctagaggattgtccac c.*300
. . . . . . g.28739
cttctgccaaggccagcccacacagcccgagccccttggggagcagtggccgggctgggg c.*360
. . . . g.28780
aggcctgcctggtcaataaaccactgttcctgcagctgaga c.*401
(downstream sequence)
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