(used for variant description)
(last modified August 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_004855.4 in the PIGB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering PIGB transcript NM_004855.4.
(upstream sequence)
. g.5016
gactgttctgcgcctg c.-301
. . . . . . g.5076
ctccacgtcactaaactcgctaccgcctgctcccctccagagaccgggggccttccagca c.-241
. . . . . . g.5136
gttttcggacccccgagcacagagaccgccaagccaaaggcgagtagcaatccctcggtt c.-181
. . . . . . g.5196
cggaaacggcgaaaggaaaccgcaaggaggccaccacgtcgggtgggagctacgaagttg c.-121
. . . . . . g.5256
cccgttcccggttacttccgggcttgcgagcgacgactgctctcaaaggccaaacttaat c.-61
. . . . . . g.5316
ggatggacgagcagcgcgctactgcagctttcttccgccttaggaaggtggcggccaggg c.-1
. . . . . . g.5376
ATGAGGAGGCCCCTAAGCAAGTGCGGAATGGAGCCGGGGGGCGGAGATGCCAGCCTCACT c.60
M R R P L S K C G M E P G G G D A S L T p.20
. . . . . . g.5436
TTGCATGGTCTCCAGAACCGCTCCCACGGCAAGATAAAGCTGCGAAAGAGAAAGTCTACC c.120
L H G L Q N R S H G K I K L R K R K S T p.40
. . . . | 02 . . g.6357
TTGTACTTCAACACCCAGGAGAAGAGCGCCAGGCGCCGCGGGG | ATCTTCTTGGAGAAAAT c.180
L Y F N T Q E K S A R R R G D | L L G E N p.60
. . . . . . g.6417
ATTTATCTGCTCTTGTTTACCATAGCTTTACGAATATTAAACTGCTTTTTAGTGCAGACA c.240
I Y L L L F T I A L R I L N C F L V Q T p.80
. . . . . | 03 g.7339
AGTTTTGTTCCAGATGAATACTGGCAGTCTCTTGAAGTTTCACATCACATGGTTTTCAA | T c.300
S F V P D E Y W Q S L E V S H H M V F N | p.100
. . . . . . g.7399
TATGGTTATTTGACTTGGGAATGGACAGAGAGACTGAGGAGTTACACTTATCCCTTAATC c.360
Y G Y L T W E W T E R L R S Y T Y P L I p.120
. . . . . | 04. g.13599
TTTGCAAGCATTTACAAGATTCTTCATCTTTTAGGGAAAGATAGTGTTCAGTTGCTG | ATT c.420
F A S I Y K I L H L L G K D S V Q L L | I p.140
. . . . . . g.13659
TGGATTCCTAGACTTGCCCAAGCACTTCTGTCTGCTGTAGCAGATGTGAGACTTTACTCA c.480
W I P R L A Q A L L S A V A D V R L Y S p.160
. . . . | 05 . . g.15807
TTAATGAAGCAACTAGAAAATCAGGAAGTGGCAAGATGGGTG | TTTTTTTGCCAGTTGTGC c.540
L M K Q L E N Q E V A R W V | F F C Q L C p.180
. . . . . . g.15867
TCCTGGTTCACATGGTATTGCTGTACCAGAACCCTTACAAACACCATGGAAACTGTTCTC c.600
S W F T W Y C C T R T L T N T M E T V L p.200
. . . . . | 06 . g.19939
ACTATAATTGCTCTTTTCTACTATCCTTTGGAAGGTTCAAAGTCTATGAACAG | TGTCAAA c.660
T I I A L F Y Y P L E G S K S M N S | V K p.220
. . . . . . g.19999
TACTCATCCCTGGTGGCACTTGCCTTCATAATTCGTCCCACAGCTGTCATTCTGTGGACA c.720
Y S S L V A L A F I I R P T A V I L W T p.240
. . . . . . g.20059
CCTTTGCTCTTCAGACATTTCTGTCAAGAACCAAGAAAGCTTGATCTTATTCTACATCAT c.780
P L L F R H F C Q E P R K L D L I L H H p.260
. | 07 . . . . . g.25378
TTTTTACCTGTAGG | CTTTGTTACTTTGAGTTTGTCTCTGATGATTGATCGTATTTTTTTT c.840
F L P V G | F V T L S L S L M I D R I F F p.280
| 08 . . . . . . g.26731
GGCCAA | TGGACTCTGGTTCAATTTAATTTTTTGAAATTTAACGTGCTGCAGAACTGGGGA c.900
G Q | W T L V Q F N F L K F N V L Q N W G p.300
. . . . . . g.26791
ACATTTTATGGTTCTCATCCATGGCACTGGTACTTCAGTCAAGGATTTCCAGTTATCTTG c.960
T F Y G S H P W H W Y F S Q G F P V I L p.320
. . . . . . g.26851
GGTACTCACTTACCCTTCTTTATTCATGGCTGCTATCTAGCACCAAAGAGATACCGGATA c.1020
G T H L P F F I H G C Y L A P K R Y R I p.340
. . . | 09 . . g.27825
CTTTTGGTGACTGTGCTGTGGACACTGCTTGTTTATAG | CATGTTGAGCCACAAAGAATTC c.1080
L L V T V L W T L L V Y S | M L S H K E F p.360
. . . . | 10 . . g.36781
AGGTTTATTTATCCAGTTTTACCATTCTGTATGGTGTTCTGTG | GATACTCATTAACCCAC c.1140
R F I Y P V L P F C M V F C G | Y S L T H p.380
. . . . . . g.36841
CTGAAAACATGGAAGAAACCAGCTCTAAGTTTCCTGTTTTTATCAAATTTGTTCCTCGCC c.1200
L K T W K K P A L S F L F L S N L F L A p.400
. . . . . . g.36901
CTTTATACTGGTTTAGTTCATCAACGAGGTACTCTTGATGTCATGAGTCATATTCAAAAA c.1260
L Y T G L V H Q R G T L D V M S H I Q K p.420
. . . . . . g.36961
GTTTGTTACAACAATCCCAATAAATCTTCAGCTTCAATATTTATAATGATGCCTTGCCAC c.1320
V C Y N N P N K S S A S I F I M M P C H p.440
. | 11. . . . . g.40906
TCTACTCCTTATTACAG | CCATGTTCACTGCCCACTTCCCATGAGATTTCTCCAGTGCCCG c.1380
S T P Y Y S | H V H C P L P M R F L Q C P p.460
. . . . . . g.40966
CCAGACCTGACTGGAAAAAGTCATTATCTTGATGAAGCAGATGTATTTTACCTAAATCCC c.1440
P D L T G K S H Y L D E A D V F Y L N P p.480
. . . . . . g.41026
TTAAACTGGTTACATAGAGAGTTTCATGATGATGCATCATTGCCTACTCACTTGATCACC c.1500
L N W L H R E F H D D A S L P T H L I T p.500
. | 12 . . . . g.41393
TTCAGCATTTTGGAAGAG | GAAATAAGCGCTTTCCTAATTTCAAGCAATTATAAAAGAACT c.1560
F S I L E E | E I S A F L I S S N Y K R T p.520
. . . . . . g.41453
GCTGTTTTCTTCCACACTCACTTGCCAGAGGGTCGAATTGGAAGTCACATATATGTCTAT c.1620
A V F F H T H L P E G R I G S H I Y V Y p.540
. . . . g.41498
GAACGGAAGTTAAAAGGGAAATTCAACATGAAGATGAAATTCTGA c.1665
E R K L K G K F N M K M K F X p.554
. . . . . . g.41558
actttcctagataaattaacattgctgggtggaaatattcagatgctgcttaaatacttc c.*60
. . . . . . g.41618
ggtaaacactgggtaagattcatggaacttagaaaaaagctgtatgaactgctttaccaa c.*120
. . . . . . g.41678
atatcactactgaggaaatgtataaaataccacatagtataaaattacatgttaatacaa c.*180
. . . g.41714
tgccagattttaaataaagacctttagttttcctca c.*216
(downstream sequence)
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