(used for variant description)
(last modified February 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_033109.4 in the PNPT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033012.1, covering PNPT1 transcript NM_033109.4.
(upstream sequence)
. . g.5027
ggaaacgaaactccatcaggctccgcc c.-61
. . . . . . g.5087
ccacggtctgcggagtgagccaatcagggcacagcctgcgttgaccgcgtgccgggtgtc c.-1
. . . . . . g.5147
ATGGCGGCCTGCAGGTACTGCTGCTCGTGCCTCCGGCTCCGGCCCCTGAGCGATGGTCCT c.60
M A A C R Y C C S C L R L R P L S D G P p.20
. . . . . . g.5207
TTCCTTCTGCCACGGCGGGATCGGGCACTCACCCAGTTGCAAGTGCGAGCACTATGGAGT c.120
F L L P R R D R A L T Q L Q V R A L W S p.40
. . . . | 02 . . g.11224
AGCGCAGGGTCTCGAGCTGTGGCCGTGGACTTAGGCAACAG | GAAATTAGAAATATCTTCT c.180
S A G S R A V A V D L G N R | K L E I S S p.60
. . . . | 03 . . g.12484
GGAAAGCTGGCCAGATTTGCAGATGGCTCTGCTGTAGTACAG | TCAGGTGACACTGCAGTA c.240
G K L A R F A D G S A V V Q | S G D T A V p.80
. . . . . | 04. g.13865
ATGGTCACAGCGGTCAGTAAAACAAAACCTTCCCCTTCCCAGTTTATGCCTTTGGTG | GTT c.300
M V T A V S K T K P S P S Q F M P L V | V p.100
. . . . . . g.13925
GACTACAGACAAAAAGCTGCTGCAGCAGGTAGAATTCCCACAAACTATCTGAGAAGAGAG c.360
D Y R Q K A A A A G R I P T N Y L R R E p.120
. . . . | 05 . . g.15093
ATTGGTACTTCTGATAAAGAAATTCTAACAAGTCGAATAATAG | ATCGTTCAATTAGACCG c.420
I G T S D K E I L T S R I I D | R S I R P p.140
. . . | 06 . . . g.18019
CTCTTTCCAGCTGGCTACTTCTATGATACACAG | GTTCTGTGTAATCTGTTAGCAGTAGAT c.480
L F P A G Y F Y D T Q | V L C N L L A V D p.160
. . . | 07. . . g.18174
GGTGTAAATGAGCCTGATGTCCTAGCAATTAATGGCG | CTTCCGTAGCCCTCTCATTATCA c.540
G V N E P D V L A I N G A | S V A L S L S p.180
. . | 08 . . . . g.19150
GATATTCCTTGGAATGGACCTGTTG | GGGCAGTACGAATAGGAATAATTGATGGAGAATAT c.600
D I P W N G P V G | A V R I G I I D G E Y p.200
. . . . . . g.19210
GTTGTTAACCCAACAAGAAAAGAAATGTCTTCTAGTACTTTAAATTTAGTGGTTGCTGGA c.660
V V N P T R K E M S S S T L N L V V A G p.220
. | 09 . . . . g.25872
GCACCTAAAAGTCAGATTG | TCATGTTGGAAGCCTCTGCAGAGAACATTTTACAGCAGGAC c.720
A P K S Q I V | M L E A S A E N I L Q Q D p.240
. . . . . . g.25932
TTTTGCCATGCTATCAAAGTGGGAGTGAAATATACCCAACAAATAATTCAGGGCATTCAG c.780
F C H A I K V G V K Y T Q Q I I Q G I Q p.260
. . . . . . g.25992
CAGTTGGTAAAAGAAACTGGTGTTACCAAGAGGACACCTCAGAAGTTATTTACCCCTTCG c.840
Q L V K E T G V T K R T P Q K L F T P S p.280
. . | 10 . . . . g.26898
CCAGAGATTGTGAAATATACTCATAA | ACTTGCTATGGAGAGACTCTATGCAGTTTTTACA c.900
P E I V K Y T H K | L A M E R L Y A V F T p.300
. | 11 . . . . g.27576
GATTACGAGCATGACAAA | GTTTCCAGAGATGAAGCTGTTAACAAAATAAGATTAGATACG c.960
D Y E H D K | V S R D E A V N K I R L D T p.320
. | 12 . . . . . g.30996
GAGGAACAACTAAAAG | AAAAATTTCCAGAAGCCGATCCATATGAAATAATAGAATCCTTC c.1020
E E Q L K E | K F P E A D P Y E I I E S F p.340
. . . . . | 13 . g.31824
AATGTTGTTGCAAAGGAAGTTTTTAGAAGTATTGTTTTGAATGAATACAAAAG | GTGCGAT c.1080
N V V A K E V F R S I V L N E Y K R | C D p.360
. . . . . . g.31884
GGTCGGGATTTGACTTCACTTAGGAATGTAAGTTGTGAGGTAGATATGTTTAAAACCCTT c.1140
G R D L T S L R N V S C E V D M F K T L p.380
. . . | 14 . . . g.36908
CATGGATCAGCATTATTTCAAAGAGGACAAACACAG | GTGCTTTGTACCGTTACATTTGAT c.1200
H G S A L F Q R G Q T Q | V L C T V T F D p.400
. . . . | 15. . g.38730
TCATTAGAATCTGGTATTAAGTCAGATCAAGTTATAACAGCTATAAA | TGGGATAAAAGAT c.1260
S L E S G I K S D Q V I T A I N | G I K D p.420
. . | 16 . . . . g.42575
AAAAATTTCATGCTGCACTACGAG | TTTCCTCCTTATGCAACTAATGAAATTGGCAAAGTC c.1320
K N F M L H Y E | F P P Y A T N E I G K V p.440
. . . | 17 . . . g.42719
ACTGGTTTAAATAGAAGAGAACTTGGGCATG | GTGCTCTTGCTGAGAAAGCTTTGTATCCT c.1380
T G L N R R E L G H G | A L A E K A L Y P p.460
. . . . . . g.42779
GTTATTCCCCGAGATTTTCCTTTCACCATAAGAGTTACATCTGAAGTCCTAGAGTCAAAT c.1440
V I P R D F P F T I R V T S E V L E S N p.480
| 18 . . . . . | 19 . g.51462
G | GGTCATCTTCTATGGCATCTGCATGTGGCGGAAGTTTAGCATTAATGGATTCAG | GGGTT c.1500
G | S S S M A S A C G G S L A L M D S G | V p.500
. . . . . . g.51522
CCAATTTCATCTGCTGTTGCAGGCGTAGCAATAGGATTGGTCACCAAAACCGATCCTGAG c.1560
P I S S A V A G V A I G L V T K T D P E p.520
. . . . | 20 . . g.52442
AAGGGTGAAATAGAAGATTATCGTTTGCTGACAGATATTTTG | GGAATTGAAGATTACAAT c.1620
K G E I E D Y R L L T D I L | G I E D Y N p.540
. . . . . | 21 . g.52594
GGTGACATGGACTTCAAAATAGCTGGCACTAATAAAGGAATAACTGCATTACAG | GCTGAT c.1680
G D M D F K I A G T N K G I T A L Q | A D p.560
. . . . . | 22 g.53480
ATTAAATTACCTGGAATACCAATAAAAATTGTGATGGAGGCTATTCAACAAGCTTCAG | TG c.1740
I K L P G I P I K I V M E A I Q Q A S V | p.580
. . . . . . g.53540
GCAAAAAAGGAGATATTACAGATCATGAACAAAACTATTTCAAAACCTCGAGCATCTAGA c.1800
A K K E I L Q I M N K T I S K P R A S R p.600
. . | 23 . . . . g.54228
AAAGAAAATGGACCTGTTGTAG | AAACTGTTCAGGTTCCATTATCAAAACGAGCAAAATTT c.1860
K E N G P V V E | T V Q V P L S K R A K F p.620
. . . . | 24 . . g.55499
GTTGGACCTGGTGGCTATAACTTAAAAAAACTTCAGGCTGAAACAG | GTGTAACTATTAGT c.1920
V G P G G Y N L K K L Q A E T G | V T I S p.640
. . . . . . g.55559
CAGGTGGATGAAGAAACGTTTTCTGTATTTGCACCAACACCCAGTGCTATGCATGAGGCA c.1980
Q V D E E T F S V F A P T P S A M H E A p.660
. . . | 25 . . . g.55724
AGAGACTTCATTACTGAAATCTGCAAGGATGAT | CAGGAGCAGCAATTAGAATTTGGAGCA c.2040
R D F I T E I C K D D | Q E Q Q L E F G A p.680
. . | 26 . . . g.58236
GTATATACCGCCACAATAACTGAAATCAG | AGATACTGGTGTAATGGTAAAATTATATCCA c.2100
V Y T A T I T E I R | D T G V M V K L Y P p.700
. . . . | 27 . g.61323
AATATGACTGCGGTACTGCTTCATAACACACAACTTGATCAACGAAAG | ATTAAACATCCT c.2160
N M T A V L L H N T Q L D Q R K | I K H P p.720
. . . | 28 . . . g.62542
ACTGCCCTAGGATTAGAAGTTGGCCAAGAAATTCAG | GTGAAATACTTTGGACGTGACCCA c.2220
T A L G L E V G Q E I Q | V K Y F G R D P p.740
. . . . . . g.62602
GCCGATGGAAGAATGAGGCTTTCTCGAAAAGTGCTTCAGTCGCCAGCTACAACCGTGGTC c.2280
A D G R M R L S R K V L Q S P A T T V V p.760
. . . . . . g.62662
AGAACTTTGAATGACAGAAGTAGTATTGTAATGGGAGAACCTATTTCACAGTCATCATCT c.2340
R T L N D R S S I V M G E P I S Q S S S p.780
. g.62674
AATTCTCAGTGA c.2352
N S Q X p.783
. . . . . . g.62734
tttttttttttaaagagaattctagaattctattttgtctagggtgatgtgctgtagagc c.*60
. . . . . . g.62794
aacattttagtagtatcttccattgtgtagatttctatataatataaatacattttaatt c.*120
. . . . . . g.62854
atttgtactaaaatgctcatttacatgtgccatttttttaattcgagtaacccatatttg c.*180
. . . . . . g.62914
tttaattgtatttacattataaatcaagaaatatttattattaaaagtaagtcatttata c.*240
. . . . . . g.62974
catcttagaaaaaattacatagttttgtttttacaattctgaaatatatgaaaaacttag c.*300
. . . . . . g.63034
atagaatatgtcatatgttattataacagatctcttcctacatcttatttttcttctttg c.*360
. . . . . . g.63094
tatacagtagtgacagtttaccttcagtcatcctacaggtcacctctgtgcccaacaact c.*420
. . . . . . g.63154
ttacttgcctacaacggttcacaaactggaacaggccatattcaaagccagtgcctattt c.*480
. . . . . . g.63214
cttcagaactgttaacagatatagtgagttgagggagctaatctgatacacttttgataa c.*540
. . . . . . g.63274
tataatgcctttcaaattagttaccaaatcataaacagagtggaataaatataaatgaga c.*600
. . . . . . g.63334
ttctaactaggatgaatgtggtagtaatgatgtatatttttcaaatttacctaaacagaa c.*660
. . . . . . g.63394
agattattggctaaggcaggcggatcatgagatcaggagatcgagaccatcctggctaac c.*720
. . . . . . g.63454
acggtgaaaccccgtctctactaaaagtgcaaaaattagccgggcgtggtggcgcatgcc c.*780
. . . . . . g.63514
tgtaatcctagctactcaggaggctgaggcagaagaatcacttcaacccaggaggtggag c.*840
. . . . . . g.63574
gttgtagtgagccgagattgcgccattgcactccagctcaggcaacaagagcaaaactcc c.*900
. . . . . . g.63634
gtctcaaaaaaaaaaaaaaaattgtttacttatcaaattgaactaggtcaatttgaatat c.*960
. . . . . . g.63694
gtgtattgctctaatgtatggaagttcttagtataagagctgaaggatcatgactttcgg c.*1020
. . . . . . g.63754
ttaatagatgtttgaaatagatgtttagaggttactgatacacatgtcaagttgttcatt c.*1080
. . . . . . g.63814
cccatcatttaaaatatcaccttataattccacagaaaagtaaatggtatgtggacgtca c.*1140
. . . . . . g.63874
taatttagaatgtgtaatcttttttaaaatcttataaaaatacactggactcagtggtac c.*1200
. . . . . . g.63934
gtgcctgtagtcccagctacttggaaggctgaagtgggaaggtcactagagcccagaagt c.*1260
. . . . . . g.63994
tcgacactgtagtgtgcaacaatcatacctgtgaatagctactgtactccagcctgggca c.*1320
. . . . . . g.64054
acatagcaggactcttatctctaaaaaaaattttaaatcttataaaaatgtaggtatatc c.*1380
. . . . . . g.64114
tggccaggcatggtggctcacacctgtaatcccaacactttgggaggtcaaggcgggtag c.*1440
. . . . . . g.64174
atcacctgaggtcaggagttcgagaccagcctggccaacatggtgaaaccccatctctac c.*1500
. . . . . . g.64234
taaaaatacaaaaattagctgggtgtggtggcgggcgcctgtaatcccagctactcagga c.*1560
. . . . . . g.64294
ggctgaggcaggagaatctcttgaacctgggaggcagaggtggcagtgagctgagatcgc c.*1620
. . . . . . g.64354
accactgcactccagcctgggcaaaaagagtaaaactccatctcaaaaaaaaaaatggtg c.*1680
. . . . . . g.64414
ggcacagaagctcatgcctgtaattccagcactttgggaggccgaggcgggtggattaca c.*1740
. . . . . . g.64474
tgaggtcaggaattcaagaccagcctggccaacacggtaaaaccccatctctactaaaaa c.*1800
. . . . . . g.64534
tacaaaaattagctgggcatggtggcaggcacctgtaatcctagctactcgggaggctga c.*1860
. . . . . . g.64594
ggcaggagaatcacttgagcctgggaaatggaggttgcagtgagccgagattgcgccatt c.*1920
. . . . . . g.64654
gcactccagcctgggcgacagagcaagactccgtctccagaaaaaaaaaaaaaaaaggta c.*1980
. . . . . . g.64714
aattcatgactcagggttaactagttcataaaatattacaaatttatctggctaaaccaa c.*2040
. . . . . . g.64774
agatttttaagtcaataaacattgattatatatctattgtgtgtaaaatagcatgttagg c.*2100
. . . . . . g.64834
caatgttgatatacttctgaaatattaaagattaattgaaaatgaaagattaaatttatt c.*2160
. g.64848
tgctttctacactt c.*2174
(downstream sequence)
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