(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_032634.3 in the PIGO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031990.1, covering PIGO transcript NM_032634.3.
(upstream sequence)
. . . g.5088
tctcccgagaacctcaccccccggtattcccctcac c.-361
. . . . . . g.5148
cctgaagtaagggagtctccctcttcccctcagctcctaaccaaggtgctcagtaccgcg c.-301
. . . . . . g.5208
gctagggtgcccagcgggaggctgggtagttaccggaggaggcagagccggtcgcacgcc c.-241
. . . . . . g.5268
tgggtcccagcggaggcccagtcgactctcgacccgggccccagcctccttgcgtggcga c.-181
. . . . . . g.5328
aggtcgtgcctcaggtctcctggcgaacctggccgcccggaagcggagagtgactcctcc c.-121
. . . . . . g.5388
ccttcgtcccctcggtgcccgccaggcggcgccgtcggctgggcccggattcccctgcgg c.-61
. . . . . . | 02 g.6036
cttcgatccctttccactgggtattgagattggcgaggggagaggcgcagaaacggcgt | g c.-1
. . . . . . g.6096
ATGCAGAAAGCCTCAGTGTTGCTCTTCCTGGCCTGGGTCTGCTTCCTCTTCTACGCTGGC c.60
M Q K A S V L L F L A W V C F L F Y A G p.20
. . . . . . g.6156
ATTGCCCTCTTCACCAGTGGCTTCCTGCTCACCCGTTTGGAGCTCACCAACCATAGCAGC c.120
I A L F T S G F L L T R L E L T N H S S p.40
. . . . . . g.6216
TGCCAAGAGCCCCCAGGCCCTGGGTCCCTGCCATGGGGGAGCCAAGGGAAACCTGGGGCC c.180
C Q E P P G P G S L P W G S Q G K P G A p.60
. . . . . . g.6276
TGCTGGATGGCTTCCCGATTTTCGCGGGTTGTGTTGGTGCTGATAGATGCTCTGCGATTT c.240
C W M A S R F S R V V L V L I D A L R F p.80
. . . . . . g.6336
GACTTCGCCCAGCCCCAGCATTCACACGTGCCTAGAGAGCCTCCTGTCTCCCTACCCTTC c.300
D F A Q P Q H S H V P R E P P V S L P F p.100
. . . . . . g.6396
CTGGGCAAACTAAGCTCCTTGCAGAGGATCCTGGAGATTCAGCCCCACCATGCCCGGCTC c.360
L G K L S S L Q R I L E I Q P H H A R L p.120
. . . . . . g.6456
TACCGATCTCAGGTTGACCCTCCTACCACCACCATGCAGCGCCTCAAGGCCCTCACCACT c.420
Y R S Q V D P P T T T M Q R L K A L T T p.140
. . . . . . g.6516
GGCTCACTGCCTACCTTTATTGATGCTGGTAGTAACTTCGCCAGCCACGCCATAGTGGAA c.480
G S L P T F I D A G S N F A S H A I V E p.160
. . . | 03 . . . g.7271
GACAATCTCATTAAGCAGCTCACCAGTGCAG | GAAGGCGTGTAGTCTTCATGGGAGATGAT c.540
D N L I K Q L T S A G | R R V V F M G D D p.180
. . . . . . g.7331
ACCTGGAAAGACCTTTTCCCTGGTGCTTTCTCCAAAGCTTTCTTCTTCCCATCCTTCAAT c.600
T W K D L F P G A F S K A F F F P S F N p.200
. . . . . | 04 . g.7582
GTCAGAGACCTAGACACAGTGGACAATGGCATCCTGGAACACCTCTACCCCACCA | TGGAC c.660
V R D L D T V D N G I L E H L Y P T M | D p.220
. . . . . . g.7642
AGTGGTGAATGGGACGTGCTGATTGCTCACTTCCTGGGTGTGGACCACTGTGGCCACAAG c.720
S G E W D V L I A H F L G V D H C G H K p.240
. . . . . | 05 g.8022
CATGGCCCTCACCACCCTGAAATGGCCAAGAAACTTAGCCAGATGGACCAGGTGATCCA | G c.780
H G P H H P E M A K K L S Q M D Q V I Q | p.260
. . . . . . g.8082
GGACTTGTGGAGCGTCTGGAGAATGACACACTGCTGGTAGTGGCTGGGGACCATGGGATG c.840
G L V E R L E N D T L L V V A G D H G M p.280
. . . . . . g.8142
ACCACAAATGGAGACCATGGAGGGGACAGTGAGCTGGAGGTCTCAGCTGCTCTCTTTCTG c.900
T T N G D H G G D S E L E V S A A L F L p.300
. . . | 06 . . g.8413
TATAGCCCCACAGCAGTCTTCCCCAGCACCCCACCAGAG | GAGCCAGAGGTGATTCCTCAA c.960
Y S P T A V F P S T P P E | E P E V I P Q p.320
. . . . . . g.8473
GTTAGCCTTGTGCCCACGCTGGCCCTGCTGCTGGGCCTGCCCATCCCATTTGGGAATATC c.1020
V S L V P T L A L L L G L P I P F G N I p.340
. . . . . . g.8533
GGGGAAGTGATGGCTGAGCTATTCTCAGGGGGTGAGGACTCCCAGCCCCACTCCTCTGCT c.1080
G E V M A E L F S G G E D S Q P H S S A p.360
. . . | 07 . . g.8855
TTAGCCCAAGCCTCAGCTCTCCATCTCAATGCTCAGCAG | GTGTCCCGATTTCTTCATACC c.1140
L A Q A S A L H L N A Q Q | V S R F L H T p.380
. . . . . . g.8915
TACTCAGCTGCTACTCAGGACCTTCAAGCTAAGGAGCTTCATCAGCTGCAGAACCTCTTC c.1200
Y S A A T Q D L Q A K E L H Q L Q N L F p.400
. . . . . . g.8975
TCCAAGGCCTCTGCTGACTACCAGTGGCTTCTCCAGAGCCCCAAGGGGGCTGAGGCGACA c.1260
S K A S A D Y Q W L L Q S P K G A E A T p.420
. . . . . . g.9035
CTGCCGACTGTGATTGCTGAGCTGCAGCAGTTCCTGCGGGGAGCTCGGGCCATGTGCATC c.1320
L P T V I A E L Q Q F L R G A R A M C I p.440
. . . . . . g.9095
GAGTCTTGGGCTCGTTTCTCTCTGGTCCGCATGGCGGGGGGTACTGCTCTCTTGGCTGCT c.1380
E S W A R F S L V R M A G G T A L L A A p.460
. . . . . . g.9155
TCCTGCTTTATCTGCCTGCTGGCATCTCAGTGGGCAATATCCCCAGGCTTTCCATTCTGC c.1440
S C F I C L L A S Q W A I S P G F P F C p.480
. . . . . . g.9215
CCTCTACTCCTGACACCTGTGGCCTGGGGCCTGGTTGGGGCCATAGCGTATGCTGGACTC c.1500
P L L L T P V A W G L V G A I A Y A G L p.500
. . . . . . g.9275
CTGGGAACTATTGAGCTGAAGCTAGATCTAGTGCTTCTAGGGGCTGTGGCTGCAGTGAGC c.1560
L G T I E L K L D L V L L G A V A A V S p.520
. . . . . . g.9335
TCATTCCTCCCTTTTCTGTGGAAAGCCTGGGCTGGCTGGGGGTCCAAGAGGCCCCTGGCA c.1620
S F L P F L W K A W A G W G S K R P L A p.540
. . . . . . g.9395
ACCCTGTTTCCCATCCCTGGGCCCGTCCTGTTACTCCTGCTGTTTCGCTTGGCTGTGTTC c.1680
T L F P I P G P V L L L L L F R L A V F p.560
. . . . . . g.9455
TTCTCTGATAGTTTTGTTGTAGCTGAGGCCAGGGCCACCCCCTTCCTTTTGGGCTCATTC c.1740
F S D S F V V A E A R A T P F L L G S F p.580
. . . . . . g.9515
ATCCTGCTCCTGGTTGTCCAGCTTCACTGGGAGGGCCAGCTGCTTCCACCTAAGCTACTC c.1800
I L L L V V Q L H W E G Q L L P P K L L p.600
. . . . . . g.9575
ACAATGCCCCGCCTTGGCACTTCAGCCACAACAAACCCCCCACGGCACAATGGTGCATAT c.1860
T M P R L G T S A T T N P P R H N G A Y p.620
. . . . . . g.9635
GCCCTGAGGCTTGGAATTGGGTTGCTTTTATGTACAAGGCTAGCTGGGCTTTTTCATCGT c.1920
A L R L G I G L L L C T R L A G L F H R p.640
. . . . . . g.9695
TGCCCTGAAGAGACACCTGTTTGCCACTCCTCTCCCTGGCTGAGTCCTCTGGCATCCATG c.1980
C P E E T P V C H S S P W L S P L A S M p.660
. . . . . . g.9755
GTGGGTGGTCGAGCCAAGAATTTGTGGTATGGAGCTTGTGTGGCGGCGCTGGTGGCCCTG c.2040
V G G R A K N L W Y G A C V A A L V A L p.680
. . . . . . g.9815
TTAGCTGCCGTGCGCTTGTGGCTTCGCCGCTATGGTAATCTCAAGAGCCCCGAGCCACCC c.2100
L A A V R L W L R R Y G N L K S P E P P p.700
. . . . . . g.9875
ATGCTCTTTGTGCGCTGGGGACTGCCCCTAATGGCATTGGGTACTGCTGCCTACTGGGCA c.2160
M L F V R W G L P L M A L G T A A Y W A p.720
. . . . . . g.9935
TTGGCGTCGGGGGCAGATGAGGCTCCCCCCCGTCTCCGGGTCCTGGTCTCTGGGGCATCC c.2220
L A S G A D E A P P R L R V L V S G A S p.740
. . . . . . g.9995
ATGGTGCTGCCTCGGGCTGTAGCAGGGCTGGCTGCTTCAGGGCTCGCGCTGCTGCTCTGG c.2280
M V L P R A V A G L A A S G L A L L L W p.760
. . . . . . g.10055
AAGCCTGTGACAGTGCTGGTGAAGGCTGGGGCAGGCGCTCCAAGGACCAGGACTGTCCTC c.2340
K P V T V L V K A G A G A P R T R T V L p.780
. . . . . . g.10115
ACTCCCTTCTCAGGCCCCCCCACTTCTCAAGCTGACTTGGATTATGTGGTCCCTCAAATC c.2400
T P F S G P P T S Q A D L D Y V V P Q I p.800
. . . . . . g.10175
TACCGACACATGCAGGAGGAGTTCCGGGGCCGGTTAGAGAGGACCAAATCTCAGGGTCCC c.2460
Y R H M Q E E F R G R L E R T K S Q G P p.820
. . . . . . g.10235
CTGACTGTGGCTGCTTATCAGTTGGGGAGTGTCTACTCAGCTGCTATGGTCACAGCCCTC c.2520
L T V A A Y Q L G S V Y S A A M V T A L p.840
. . . . . . g.10295
ACCCTGTTGGCCTTCCCACTTCTGCTGTTGCATGCGGAGCGCATCAGCCTTGTGTTCCTG c.2580
T L L A F P L L L L H A E R I S L V F L p.860
. . . . . . g.10355
CTTCTGTTTCTGCAGAGCTTCCTTCTCCTACATCTGCTTGCTGCTGGGATACCCGTCACC c.2640
L L F L Q S F L L L H L L A A G I P V T p.880
| 08. . . . . . g.10982
ACCCCTG | GTCCTTTTACTGTGCCATGGCAGGCAGTCTCGGCTTGGGCCCTCATGGCCACA c.2700
T P G | P F T V P W Q A V S A W A L M A T p.900
. . . . . . g.11042
CAGACCTTCTACTCCACAGGCCACCAGCCTGTCTTTCCAGCCATCCATTGGCATGCAGCC c.2760
Q T F Y S T G H Q P V F P A I H W H A A p.920
. . . . . . g.11102
TTCGTGGGATTCCCAGAGGGTCATGGCTCCTGTACTTGGCTGCCTGCTTTGCTAGTGGGA c.2820
F V G F P E G H G S C T W L P A L L V G p.940
. . . | 09 . . . g.11347
GCCAACACCTTTGCCTCCCACCTCCTCTTTGCAG | TAGGTTGCCCACTGCTCCTGCTCTGG c.2880
A N T F A S H L L F A V | G C P L L L L W p.960
. . . . . . g.11407
CCTTTCCTGTGTGAGAGTCAAGGGCTGCGGAAGAGACAGCAGCCCCCAGGGAATGAAGCT c.2940
P F L C E S Q G L R K R Q Q P P G N E A p.980
. . . . . . g.11467
GATGCCAGAGTCAGACCCGAGGAGGAAGAGGAGCCACTGATGGAGATGCGGCTCCGGGAT c.3000
D A R V R P E E E E E P L M E M R L R D p.1000
. . . . . . g.11527
GCGCCTCAGCACTTCTATGCAGCACTGCTGCAGCTGGGCCTCAAGTACCTCTTTATCCTT c.3060
A P Q H F Y A A L L Q L G L K Y L F I L p.1020
| 10 . . . . . g.12202
GGTATTCAG | ATTCTGGCCTGTGCCTTGGCAGCCTCCATCCTTCGCAGGCATCTCATGGTC c.3120
G I Q | I L A C A L A A S I L R R H L M V p.1040
. . | 11 . . . . g.12420
TGGAAAGTGTTTGCCCCTAA | GTTCATATTTGAGGCTGTGGGCTTCATTGTGAGCAGCGTG c.3180
W K V F A P K | F I F E A V G F I V S S V p.1060
. . . . . . g.12480
GGACTTCTCCTGGGCATAGCTTTGGTGATGAGAGTGGATGGTGCTGTGAGCTCCTGGTTC c.3240
G L L L G I A L V M R V D G A V S S W F p.1080
. . . g.12510
AGGCAGCTATTTCTGGCCCAGCAGAGGTAG c.3270
R Q L F L A Q Q R X p.1089
. . . . . . g.12570
cctagtctgtgattactggcacttggctacagagagtgcttgagaacagtgtagcctggc c.*60
. . . . . . g.12630
ctgtacaggtactggatgatctgcaagacaggctcagccatactcttactatcatgcagc c.*120
. . . . . . g.12690
caggggccgctgacatctaggacttcattattctataattcaggaccacagtggagtatg c.*180
. . . . . . g.12750
atccctaactcctgatttggatgcatctgagggacaaggggggcggtctccgaagtggaa c.*240
. . . . . . g.12810
taaaataggccgggcgtggtgacttgcacctataatcccagcactttgggaggcagaggt c.*300
. . . . . . g.12870
gggaggattgcttggtcccaggagttcaagaccagcctgtggaacataacaagaccccgt c.*360
. . . . g.12914
ctctactatttaaaaaaaagtgtaataaaatgataatataatta c.*404
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2014 Leiden University Medical Center