(used for variant description)
(last modified May 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001127178.1 in the PIGG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering PIGG transcript NM_001127178.1.
(upstream sequence)
. g.5016
acgtgacgccactgtc c.-121
. . . . . . g.5076
gctgcgacgataaggcctggcgttattgcttagaggcggctacctggagccggaagcgcg c.-61
. . . . . . g.5136
gctgcagcagggcgaggctccaggtggggtcggttccgcatccagcctagcgtgtccacg c.-1
. . . . . . g.5196
ATGCGGCTGGGCTCCGGGACTTTCGCTACCTGTTGCGTAGCGATCGAGGTGCTAGGGATC c.60
M R L G S G T F A T C C V A I E V L G I p.20
. . . . . . g.5256
GCGGTCTTCCTTCGGGGATTCTTCCCGGCTCCCGTTCGTTCCTCTGCCAGAGCGGAACAC c.120
A V F L R G F F P A P V R S S A R A E H p.40
. . . | 02 . . . g.6222
GGAGCGGAGCCCCCAGCGCCCGAACCCTCGGCTG | GAGCCAGTTCTAACTGGACCACGCTG c.180
G A E P P A P E P S A G | A S S N W T T L p.60
. . . . . . g.6282
CCACCACCTCTCTTCAGTAAAGTTGTTATTGTTCTGATAGATGCCTTGAGAGATGATTTT c.240
P P P L F S K V V I V L I D A L R D D F p.80
. . . . . . g.6342
GTGTTTGGGTCAAAGGGTGTGAAATTTATGCCCTACACAACTTACCTTGTGGAAAAAGGA c.300
V F G S K G V K F M P Y T T Y L V E K G p.100
. . . . . . g.6402
GCATCTCACAGTTTTGTGGCTGAAGCAAAGCCACCTACAGTTACTATGCCTCGAATCAAG c.360
A S H S F V A E A K P P T V T M P R I K p.120
| 03 . . . . . . g.11578
| GCATTGATGACGGGGAGCCTTCCTGGCTTTGTCGACGTCATCAGGAACCTCAATTCTCCT c.420
| A L M T G S L P G F V D V I R N L N S P p.140
. . . . . . g.11638
GCACTGCTGGAAGACAGTGTGATAAGACAAGCAAAAGCAGCTGGAAAAAGAATAGTCTTT c.480
A L L E D S V I R Q A K A A G K R I V F p.160
. . . . . . g.11698
TATGGAGATGAAACCTGGGTTAAATTATTCCCAAAGCATTTTGTGGAATATGATGGAACA c.540
Y G D E T W V K L F P K H F V E Y D G T p.180
. . . | 04 . . . g.13235
ACCTCATTTTTCGTGTCAGATTACACAGAG | GTGGATAATAATGTCACGAGGCATTTGGAT c.600
T S F F V S D Y T E | V D N N V T R H L D p.200
. . . . . . g.13295
AAAGTATTAAAAAGAGGAGATTGGGACATATTAATCCTCCACTACCTGGGGCTGGACCAC c.660
K V L K R G D W D I L I L H Y L G L D H p.220
. . . . . . g.13355
ATTGGCCACATTTCAGGGCCCAACAGCCCCCTGATTGGGCAGAAGCTGAGCGAGATGGAC c.720
I G H I S G P N S P L I G Q K L S E M D p.240
. . . | 05 . . g.14650
AGCGTGCTGATGAAGATCCACACCTCACTGCAGTCGAAG | GAGAGAGAGACGCCTTTACCC c.780
S V L M K I H T S L Q S K | E R E T P L P p.260
. . . . . . g.14710
AATTTGCTGGTTCTTTGTGGTGACCATGGCATGTCTGAAACAGGAAGTCACGGGGCCTCC c.840
N L L V L C G D H G M S E T G S H G A S p.280
. . . . . . g.14770
TCCACCGAGGAGGTGAATACACCTCTGATTTTAATCAGTTCTGCGTTTGAAAGGAAACCC c.900
S T E E V N T P L I L I S S A F E R K P p.300
| 06 . . . . . . g.21832
G | GTGATATCCGACATCCAAAGCACGTCCAACAGACGGATGTGGCTGCGACACTGGCGATA c.960
G | D I R H P K H V Q Q T D V A A T L A I p.320
. . . . . . g.21892
GCACTTGGCTTACCGATTCCAAAAGACAGTGTAGGGAGCCTCCTATTCCCAGTTGTGGAA c.1020
A L G L P I P K D S V G S L L F P V V E p.340
. . . . . . g.21952
GGAAGACCAATGAGAGAGCAGTTGAGATTTTTACATTTGAATACAGTGCAGCTTAGTAAA c.1080
G R P M R E Q L R F L H L N T V Q L S K p.360
. . . | 07 . . . g.26882
CTGTTGCAAGAGAATGTGCCGTCATATGAAAAAG | ATCCTGGGTTTGAGCAGTTTAAAATG c.1140
L L Q E N V P S Y E K D | P G F E Q F K M p.380
. . . . . . g.26942
TCAGAAAGATTGCATGGGAACTGGATCAGACTGTACTTGGAGGAAAAGCATTCAGAAGTC c.1200
S E R L H G N W I R L Y L E E K H S E V p.400
. . . . . . g.27002
CTATTCAACCTGGGCTCCAAGGTTCTCAGGCAGTACCTGGATGCTCTGAAGACGCTGAGC c.1260
L F N L G S K V L R Q Y L D A L K T L S p.420
. . . . . . g.27062
TTGTCCCTGAGTGCACAAGTGGCCCAGTACGACATCTATTCGATGATGGTGGGGACTGTC c.1320
L S L S A Q V A Q Y D I Y S M M V G T V p.440
. | 08 . . . . . g.27508
GTGGTTTTGGAG | GTTCTCACCCTGCTCCTGCTCAGCGTCCCACAGGCACTGCGCAGAAAG c.1380
V V L E | V L T L L L L S V P Q A L R R K p.460
. . . . . . g.27568
GCTGAGCTGGAAGTCCCACTGTCATCTCCTGGGTTTTCTCTGCTCTTTTATTTGGTGATC c.1440
A E L E V P L S S P G F S L L F Y L V I p.480
. . . . . . g.27628
CTGGTTCTTTCGGCCGTTCACGTCATTGTGTGCACCTCAGCTGAAAGTTCGTGCTACTTC c.1500
L V L S A V H V I V C T S A E S S C Y F p.500
. . . . . . g.27688
TGTGGCCTCTCGTGGCTGGCGGCAGGTGGGGTGATGGTGCTGGCCTCGGCGCTGCTGTGT c.1560
C G L S W L A A G G V M V L A S A L L C p.520
. . . . . | 09 . g.29265
GTGATTGTGTCTGTTCTGACCAACGTGCTCGTGGGTGGAAACACCCCAAGGAAG | AACCCC c.1620
V I V S V L T N V L V G G N T P R K | N P p.540
. . . . . . g.29325
ATGCATCCCAGCTCAAGGTGGTCAGAGCTAGACCTTCTTATTCTGTTGGGGACGGCGGGC c.1680
M H P S S R W S E L D L L I L L G T A G p.560
. . . . . . g.29385
CACGTCTTGAGCCTGGGCGCCAGCAGCTTCGTGGAGGAGGAGCACCAGACCTGGTACTTC c.1740
H V L S L G A S S F V E E E H Q T W Y F p.580
. . . . . . g.29445
CTTGTGAACACCCTGTGTCTAGCTCTGAGCCAAGAAACCTACAGAAACTACTTTCTGGGA c.1800
L V N T L C L A L S Q E T Y R N Y F L G p.600
. . . . . . g.29505
GATGACGGTGAGCCTCCGTGTGGCCTCTGTGTGGAACAAGGGCATGACGGGGCCACAGCA c.1860
D D G E P P C G L C V E Q G H D G A T A p.620
. . . . . . g.29565
GCGTGGCAGGACGGGCCTGGCTGTGATGTCCTGGAGCGAGACAAAGGCCACGGAAGCCCC c.1920
A W Q D G P G C D V L E R D K G H G S P p.640
. . . . . . g.29625
TCTACCTCCGAAGTGCTCAGAGGCCGCGAGAAGTGGATGGTGCTGGCCAGTCCGTGGCTA c.1980
S T S E V L R G R E K W M V L A S P W L p.660
. . . . . . g.29685
ATACTGGCCTGCTGCCGGCTGCTGCGCTCCCTAAACCAGACAGGTGTGCAGTGGGCTCAC c.2040
I L A C C R L L R S L N Q T G V Q W A H p.680
. . | 10 . . . g.32870
CGGCCTGACCTCGGCCACTGGCTCACCAG | CTCTGACCACAAAGCCGAGCTCTCTGTCCTG c.2100
R P D L G H W L T S | S D H K A E L S V L p.700
. . . . . . g.32930
GCTGCCCTCTCCCTCCTCGTAGTTTTTGTGCTGGTGCAGAGGGGGTGCTCCCCTGTGTCC c.2160
A A L S L L V V F V L V Q R G C S P V S p.720
. . . . . . g.32990
AAGGCTGCCCTGGCGCTGGGGCTGCTGGGCGTCTACTGCTACCGGGCGGCCATCGGGAGT c.2220
K A A L A L G L L G V Y C Y R A A I G S p.740
. . . . | 11 . . g.36255
GTCCGGTTCCCGTGGCGGCCGGACAGCAAGGACATTTCCAA | GGGTATTATTGAAGCTCGT c.2280
V R F P W R P D S K D I S K | G I I E A R p.760
. . . . . . g.36315
TTTGTTTATGTCTTTGTCCTTGGCATTCTGTTCACGGGCACCAAAGACTTACTTAAATCT c.2340
F V Y V F V L G I L F T G T K D L L K S p.780
. . . . . . g.36375
CAAGTCATTGCTGCAGACTTCAAACTCAAGACTGTAGGTTTATGGGAGATATATAGTGGA c.2400
Q V I A A D F K L K T V G L W E I Y S G p.800
. . . . . . g.36435
TTAGTTCTTCTGGCAGCCTTGCTCTTTAGACCACATAATCTTCCGGTCTTAGCATTTAGC c.2460
L V L L A A L L F R P H N L P V L A F S p.820
. . . . . . g.36495
CTCTTGATTCAGACTCTAATGACTAAATTCATCTGGAAGCCCCTGAGACACGATGCAGCT c.2520
L L I Q T L M T K F I W K P L R H D A A p.840
. . . . . | 12 . g.39627
GAGATTACTGTGATGCATTATTGGTTTGGTCAAGCATTCTTCTATTTTCAG | GGCAACTCC c.2580
E I T V M H Y W F G Q A F F Y F Q | G N S p.860
. . . . . . g.39687
AACAACATTGCCACCGTGGACATCTCCGCAGGCTTCGTGGGCTTAGACACCTACGTGGAA c.2640
N N I A T V D I S A G F V G L D T Y V E p.880
. . . . . . g.39747
ATCCCAGCCGTGCTCCTGACAGCGTTTGGGACGTACGCAGGGCCTGTGCTGTGGGCCAGC c.2700
I P A V L L T A F G T Y A G P V L W A S p.900
. . . | 13 . . . g.44978
CACTTAGTGCACTTCCTGAGCTCAGAAACACGCAG | TGGTTCAGCACTGAGTCATGCTTGC c.2760
H L V H F L S S E T R S | G S A L S H A C p.920
. . . . . . g.45038
TTCTGCTACGCACTGATTTGTTCTATTCCAGTTTTCACGTACATCGTTTTGGTGACATCT c.2820
F C Y A L I C S I P V F T Y I V L V T S p.940
. . . . . . g.45098
CTGCGTTATCATTTATTTATATGGAGTGTATTTTCTCCAAAACTTCTCTACGAGGGAATG c.2880
L R Y H L F I W S V F S P K L L Y E G M p.960
. . . . . . g.45158
CACCTGCTCATTACAGCTGCTGTCTGTGTATTCTTCACGGCAATGGATCAAACCAGACTC c.2940
H L L I T A A V C V F F T A M D Q T R L p.980
. g.45170
ACACAGTCTTAG c.2952
T Q S X p.983
. . . . . . g.45230
actaagctgaacactggaaaaataatacatgcttaaagtctgctgttattctaaaatgaa c.*60
. . . . . . g.45290
agatatgaattcaacaaagttgatggataactttctttgactgctctacctgaatttaga c.*120
. . . . g.45332
ctaagcagtaaatagtttaataaaagatcactttaatataca c.*162
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 15
©2004-2016 Leiden University Medical Center