(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_178517.3 in the PIGW gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering PIGW transcript NM_178517.3.
(upstream sequence)
. . . . . | 02 g.6548
acgtagaccgtctgctgggggcgccggcaccatttggagtacgtgag | gaagaaaa c.-1
. . . . . . g.6608
ATGTCTGAAAAGCAGATGAAGGAAGCTTTTGTCAGTAACCTCAATGGAACCACCGTGCTG c.60
M S E K Q M K E A F V S N L N G T T V L p.20
. . . . . . g.6668
GAAATCACCCAGGGATTGTGCTTTCCTGCATTCTGTATCCTGTGCAGAGGGTTCCTGATC c.120
E I T Q G L C F P A F C I L C R G F L I p.40
. . . . . . g.6728
ATTTTCTCACAGTACTTGTGTTCTTTTTCACCTACCTGGAAAACTAGATTCCTCACTGAC c.180
I F S Q Y L C S F S P T W K T R F L T D p.60
. . . . . . g.6788
TTTGTTGTCCTAATAGTTCCCATGGTAGCCACTTTGACCATTTGGGCTTCATTTATCCTC c.240
F V V L I V P M V A T L T I W A S F I L p.80
. . . . . . g.6848
CTTGAGCTTCTCGGTGTAATTATCTTTGGGGCAGGGCTGTTGTATCAAATATACCGAAGG c.300
L E L L G V I I F G A G L L Y Q I Y R R p.100
. . . . . . g.6908
AGGACCTGCTATGCCAGACTGCCTTTCCTAAAAATCCTTGAAAAATTCTTGAACATCAGT c.360
R T C Y A R L P F L K I L E K F L N I S p.120
. . . . . . g.6968
CTAGAATCAGAATACAATCCAGCCATCTCCTGTTTCCGTGTAATTACCAGTGCGTTTACT c.420
L E S E Y N P A I S C F R V I T S A F T p.140
. . . . . . g.7028
GCTATTGCTATTTTGGCTGTGGACTTCCCACTTTTTCCCAGAAGATTTGCCAAAACTGAG c.480
A I A I L A V D F P L F P R R F A K T E p.160
. . . . . . g.7088
CTCTATGGGACAGGAGCAATGGATTTTGGAGTAGGTGGCTTTGTTTTTGGGTCTGCAATG c.540
L Y G T G A M D F G V G G F V F G S A M p.180
. . . . . . g.7148
GTTTGTCTAGAGGTCAGGAGGAGAAAATATATGGAAGGGTCCAAATTGCATTACTTTACA c.600
V C L E V R R R K Y M E G S K L H Y F T p.200
. . . . . . g.7208
AACTCATTGTACTCTGTTTGGCCATTAGTCTTCCTAGGAATCGGACGATTAGCCATTATA c.660
N S L Y S V W P L V F L G I G R L A I I p.220
. . . . . . g.7268
AAATCAATAGGCTATCAGGAACATTTAACAGAGTATGGAGTTCACTGGAACTTTTTCTTT c.720
K S I G Y Q E H L T E Y G V H W N F F F p.240
. . . . . . g.7328
ACCATAATAGTTGTGAAATTGATAACACCACTGCTGTTGATTATTTTTCCCCTAAATAAG c.780
T I I V V K L I T P L L L I I F P L N K p.260
. . . . . . g.7388
TCCTGGATTATTGCCCTCGGCATTACTGTATTATACCAGCTAGCCCTTGACTTTACCTCA c.840
S W I I A L G I T V L Y Q L A L D F T S p.280
. . . . . . g.7448
CTGAAGAGGTTAATATTATATGGCACTGATGGTAGTGGCACACGGGTTGGTCTATTAAAT c.900
L K R L I L Y G T D G S G T R V G L L N p.300
. . . . . . g.7508
GCCAACCGCGAAGGAATAATCTCTACCCTGGGGTATGTGGCAATACACATGGCTGGTGTG c.960
A N R E G I I S T L G Y V A I H M A G V p.320
. . . . . . g.7568
CAAACAGGGTTATATATGCATAAGAACCGATCACATATCAAAGACTTGATAAAAGTAGCC c.1020
Q T G L Y M H K N R S H I K D L I K V A p.340
. . . . . . g.7628
TGTTTTCTTTTACTGGCAGCTATTAGCCTCTTCATATCTCTTTACGTAGTTCAAGTAAAT c.1080
C F L L L A A I S L F I S L Y V V Q V N p.360
. . . . . . g.7688
GTAGAAGCAGTATCTCGAAGAATGGCAAATTTAGCCTTTTGTATTTGGATAGTTGCTTCT c.1140
V E A V S R R M A N L A F C I W I V A S p.380
. . . . . . g.7748
AGCCTGATCCTTCTTAGTAGTTTATTACTGGGTGATATAATTTTGAGTTTTGCCAAATTT c.1200
S L I L L S S L L L G D I I L S F A K F p.400
. . . . . . g.7808
CTAATTAAAGGAGCTCTAGTACCATGTTCTTGGAAACTTATCCAGTCACCTGTTACAAAT c.1260
L I K G A L V P C S W K L I Q S P V T N p.420
. . . . . . g.7868
AAAAAGCATTCAGAATCTCTAGTCCCTGAAGCCGAAAGAATGGAACCCAGTCTTTGTTTA c.1320
K K H S E S L V P E A E R M E P S L C L p.440
. . . . . . g.7928
ATCACAGCTCTAAACAGAAAACAGTTAATATTTTTCTTGCTGTCAAATATAACAACTGGC c.1380
I T A L N R K Q L I F F L L S N I T T G p.460
. . . . . . g.7988
CTGATCAACCTGATGGTAGATACATTACACAGCAGTACCTTGTGGGCCTTATTTGTGGTC c.1440
L I N L M V D T L H S S T L W A L F V V p.480
. . . . . . g.8048
AATCTCTATATGTTTTCCAACTGTTTAATTGTATATGTACTATATTTGCAAGATAAGACT c.1500
N L Y M F S N C L I V Y V L Y L Q D K T p.500
. g.8063
GTACAATTTTGGTGA c.1515
V Q F W X p.504
. . . . . . g.8123
tcagcaggagtaggatatataagtatttgggcaatatttaatgaggaatattaattgtaa c.*60
. . . . . . g.8183
agaaattgtgcttttggcaacagtgttaaccatattttattataaaatagtttcagtcat c.*120
. . . . . . g.8243
ctaaacagcagtgatgcttaattatttttttttttgagacagagtcttgctctgttaccc c.*180
. . . . . . g.8303
aggctggagtgtagtggtgccatctcagctcactgcaacctccacctcccgggttcaagc c.*240
. . . . . . g.8363
aattctcctgcctcagcctcctgagtagctggcactgtaggcatgtaccaccatgcccag c.*300
. . . . . . g.8423
ctaatttttatatttttagtagagatggggttttgccatattggccaggctggtctcaaa c.*360
. . . . . . g.8483
ctcctgaactcaagtgataacacccaccttggcctcccaaagtgctgggattacaggtgt c.*420
. . . . . . g.8543
gagccaccacactgggccaatgcttaatattttaatgtatctcaacaataaaaccaagaa c.*480
. . . . . . g.8603
gaaacaaagccttttgacttgttagaatgtattaagtagtattttaaagaaactttatag c.*540
. . . . . . g.8663
ttgtgacattgaaagactgttggggtggggggaggaaaatttttactttccatcttaatg c.*600
. . . . . . g.8723
taaccttatgctattctgtatttttactgtatattgcttttacaataaatataaaatgaa c.*660
. . g.8748
atgtttatgttgacatttcagtgtg c.*685
(downstream sequence)
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