(used for variant description)
(last modified November 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015937.5 in the PIGT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering PIGT transcript NM_015937.5.
(upstream sequence)
. . . g.5030
agcggaagtcacttctcacacgcctttctt c.-61
. . . . . . g.5090
attggataccggcttttcatggggccgagcgccgctgggtaggcggaagtagccgcaggc c.-1
. . . . . . g.5150
ATGGCGGCGGCTATGCCGCTTGCTCTGCTCGTCCTGTTGCTCCTGGGGCCCGGCGGCTGG c.60
M A A A M P L A L L V L L L L G P G G W p.20
. . . . . . g.5210
TGCCTTGCAGAACCCCCACGCGACAGCCTGCGGGAGGAACTTGTCATCACCCCGCTGCCT c.120
C L A E P P R D S L R E E L V I T P L P p.40
. . . . . . g.5270
TCCGGGGACGTAGCCGCCACATTCCAGTTCCGCACGCGCTGGGATTCGGAGCTTCAGCGG c.180
S G D V A A T F Q F R T R W D S E L Q R p.60
| 02. . . . . . g.5503
GAAGGAG | TGTCCCATTACAGGCTCTTTCCCAAAGCCCTGGGGCAGCTGATCTCCAAGTAT c.240
E G V | S H Y R L F P K A L G Q L I S K Y p.80
. . . . . . g.5563
TCTCTACGGGAGCTGCACCTGTCATTCACACAAGGCTTTTGGAGGACCCGATACTGGGGG c.300
S L R E L H L S F T Q G F W R T R Y W G p.100
. . . . . . g.5623
CCACCCTTCCTGCAGGCCCCATCAGGTGCAGAGCTGTGGGTCTGGTTCCAAGACACTGTC c.360
P P F L Q A P S G A E L W V W F Q D T V p.120
| 03 . . . . . . g.7840
ACTGA | TGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCC c.420
T D | V D K S W K E L S N V L S G I F C A p.140
. . . . . . g.7900
TCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTG c.480
S L N F I D S T N T V T P T A S F K P L p.160
. | 04 . . . . . g.8275
GGTCTGGCCAATG | ACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTG c.540
G L A N D | T D H Y F L R Y A V L P R E V p.180
. . . . . | 05 . g.8443
GTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAG | GCAGGC c.600
V C T E N L T P W K K L L P C S S K | A G p.200
. . . . . . g.8503
CTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTG c.660
L S V L L K A D R L F H T S Y H S Q A V p.220
. . | 06 . . . . g.9108
CATATCCGCCCTGTTTGCAGA | AATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAG c.720
H I R P V C R | N A R C T S I S W E L R Q p.240
. . . . | 07 . g.9276
ACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAG | ACTGGTCCCTC c.780
T L S V V F D A F I T G Q G K K D | W S L p.260
. . . . . . g.9336
TTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTC c.840
F R M F S R T L T E P C P L A S E S R V p.280
. . | 08. . . . g.9494
TATGTGGACATCACCACCTACAACCAG | GACAACGAGACATTAGAGGTGCACCCACCCCCG c.900
Y V D I T T Y N Q | D N E T L E V H P P P p.300
. . . . . . g.9554
ACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTG c.960
T T T Y Q D V I L G T R K T Y A I Y D L p.320
. . . . . . g.9614
CTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGA c.1020
L D T A M I N N S R N L N I Q L K W K R p.340
. | 09 . . . . . g.10363
CCCCCAGAGAATG | AGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGC c.1080
P P E N E | A P P V P F L H A Q R Y V S G p.360
. . . . . . g.10423
TATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCC c.1140
Y G L Q K G E L S T L L Y N T H P Y R A p.380
. . . . . . g.10483
TTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTC c.1200
F P V L L L D T V P W Y L R L Y V H T L p.400
. . . | 10 . . . g.13175
ACCATCACCTCCAAGGGCAAGGAGAACAAACCAA | GTTACATCCACTACCAGCCTGCCCAG c.1260
T I T S K G K E N K P S | Y I H Y Q P A Q p.420
. . . . . . g.13235
GACCGGCTGCAACCCCACCTCCTGGAGATGCTGATTCAGCTGCCGGCCAACTCAGTCACC c.1320
D R L Q P H L L E M L I Q L P A N S V T p.440
. . . . . . g.13295
AAGGTTTCCATCCAGTTTGAGCGGGCGCTGCTGAAGTGGACCGAGTACACGCCAGATCCT c.1380
K V S I Q F E R A L L K W T E Y T P D P p.460
. . | 11 . . . . g.13469
AACCATGGCTTCTATGTCAG | CCCATCTGTCCTCAGCGCCCTTGTGCCCAGCATGGTAGCA c.1440
N H G F Y V S | P S V L S A L V P S M V A p.480
. . . . | 12 . . g.14523
GCCAAGCCAGTGGACTGGGAAGAGAGTCCCCTCTTCAACAGCCT | GTTCCCAGTCTCTGAT c.1500
A K P V D W E E S P L F N S L | F P V S D p.500
. . . . . . g.14583
GGCTCTAACTACTTTGTGCGGCTCTACACGGAGCCGCTGCTGGTGAACCTGCCGACACCG c.1560
G S N Y F V R L Y T E P L L V N L P T P p.520
. . . . . . g.14643
GACTTCAGCATGCCCTACAACGTGATCTGCCTCACGTGCACTGTGGTGGCCGTGTGCTAT c.1620
D F S M P Y N V I C L T C T V V A V C Y p.540
. . . . . . g.14703
GGCTCCTTCTACAATCTCCTCACCCGAACCTTCCACATCGAGGAGCCCCGCACAGGTGGC c.1680
G S F Y N L L T R T F H I E E P R T G G p.560
. . . . . g.14760
CTGGCCAAGCGGCTGGCCAACCTTATCCGGCGCGCCCGAGGTGTCCCCCCACTCTGA c.1737
L A K R L A N L I R R A R G V P P L X p.578
. . . . . . g.14820
ttcttgccctttccagcagctgcagctgccgtttctctctggggaggggagcccaagggc c.*60
. . . . . . g.14880
tgtttctgccacttgctctcctcagagttggcttttgaaccaaagtgccctggaccaggt c.*120
. . . . . . g.14940
cagggcctacagctgtgttgtccagtacaggagccacgagccaaatgtggcatttgaatt c.*180
. . . . . . g.15000
tgaattaacttagaaattcatttcctcacctgtagtggccacctctatattgaggtgctc c.*240
. . . . . . g.15060
aataagcaaaagtggtcggtggctgctgtattggacagcacagaaaaagatttccatcac c.*300
. . . . . . g.15120
cacagaaaggtcggctggcagcactggccaaggtgatggggtgtgctacacagtgtatgt c.*360
. . . . . g.15179
cactgtgtagtggatggagtttactgtttgtggaataaaaacggctgtttccgtggttc c.*419
(downstream sequence)
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