(used for variant description)
(last modified February 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000918.3 in the P4HB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042033.1, covering P4HB transcript NM_000918.3.
(upstream sequence)
. g.5017
gagcctcgaagtccgcc c.-181
. . . . . . g.5077
ggccaatcgaaggcgggccccagcggcgcgtgcgcgccgcggccagcgcgcgcgggcggg c.-121
. . . . . . g.5137
ggggcaggcgcgccccggacccaggatttataaaggcgaggccgggaccggcgcgcgctc c.-61
. . . . . . g.5197
tcgtcgcccccgctgtcccggcggcgccaaccgaagcgccccgcctgatccgtgtccgac c.-1
. . . . . . g.5257
ATGCTGCGCCGCGCTCTGCTGTGCCTGGCCGTGGCCGCCCTGGTGCGCGCCGACGCCCCC c.60
M L R R A L L C L A V A A L V R A D A P p.20
. . . . . . g.5317
GAGGAGGAGGACCACGTCCTGGTGCTGCGGAAAAGCAACTTCGCGGAGGCGCTGGCGGCC c.120
E E E D H V L V L R K S N F A E A L A A p.40
. . | 02 . . . . g.6316
CACAAGTACCTGCTGGTGGAGTTCT | ATGCCCCTTGGTGTGGCCACTGCAAGGCTCTGGCC c.180
H K Y L L V E F Y | A P W C G H C K A L A p.60
. . . . . . g.6376
CCTGAGTATGCCAAAGCCGCTGGGAAGCTGAAGGCAGAAGGTTCCGAGATCAGGTTGGCC c.240
P E Y A K A A G K L K A E G S E I R L A p.80
. . . . . . g.6436
AAGGTGGACGCCACGGAGGAGTCTGACCTGGCCCAGCAGTACGGCGTGCGCGGCTATCCC c.300
K V D A T E E S D L A Q Q Y G V R G Y P p.100
. . . . . | 03 . g.10090
ACCATCAAGTTCTTCAGGAATGGAGACACGGCTTCCCCCAAGGAATATACAG | CTGGCAGA c.360
T I K F F R N G D T A S P K E Y T A | G R p.120
. . . . . . g.10150
GAGGCTGATGACATCGTGAACTGGCTGAAGAAGCGCACGGGCCCGGCTGCCACCACCCTG c.420
E A D D I V N W L K K R T G P A A T T L p.140
. . . . . . g.10210
CCTGACGGCGCAGCTGCAGAGTCCTTGGTGGAGTCCAGCGAGGTGGCTGTCATCGGCTTC c.480
P D G A A A E S L V E S S E V A V I G F p.160
| 04 . . . . . . g.10443
TTCAAG | GACGTGGAGTCGGACTCTGCCAAGCAGTTTTTGCAGGCAGCAGAGGCCATCGAT c.540
F K | D V E S D S A K Q F L Q A A E A I D p.180
. . . . . . g.10503
GACATACCATTTGGGATCACTTCCAACAGTGACGTGTTCTCCAAATACCAGCTCGACAAA c.600
D I P F G I T S N S D V F S K Y Q L D K p.200
. . | 05 . . . . g.18357
GATGGGGTTGTCCTCTTTAAGAAG | TTTGATGAAGGCCGGAACAACTTTGAAGGGGAGGTC c.660
D G V V L F K K | F D E G R N N F E G E V p.220
. . . . . . g.18417
ACCAAGGAGAACCTGCTGGACTTTATCAAACACAACCAGCTGCCCCTTGTCATCGAGTTC c.720
T K E N L L D F I K H N Q L P L V I E F p.240
| 06 . . . . . g.18647
ACCGAGCAG | ACAGCCCCGAAGATTTTTGGAGGTGAAATCAAGACTCACATCCTGCTGTTC c.780
T E Q | T A P K I F G G E I K T H I L L F p.260
. . . . . . g.18707
TTGCCCAAGAGTGTGTCTGACTATGACGGCAAACTGAGCAACTTCAAAACAGCAGCCGAG c.840
L P K S V S D Y D G K L S N F K T A A E p.280
. | 07 . . . . . g.19084
AGCTTCAAGGGCAAG | ATCCTGTTCATCTTCATCGACAGCGACCACACCGACAACCAGCGC c.900
S F K G K | I L F I F I D S D H T D N Q R p.300
. . . . . . g.19144
ATCCTCGAGTTCTTTGGCCTGAAGAAGGAAGAGTGCCCGGCCGTGCGCCTCATCACCCTG c.960
I L E F F G L K K E E C P A V R L I T L p.320
. . . . . . g.19204
GAGGAGGAGATGACCAAGTACAAGCCCGAATCGGAGGAGCTGACGGCAGAGAGGATCACA c.1020
E E E M T K Y K P E S E E L T A E R I T p.340
. . . | 08 . . . g.19701
GAGTTCTGCCACCGCTTCCTGGAGGGCAAAATCAAG | CCCCACCTGATGAGCCAGGAGCTG c.1080
E F C H R F L E G K I K | P H L M S Q E L p.360
. . . . . . g.19761
CCGGAGGACTGGGACAAGCAGCCTGTCAAGGTGCTTGTTGGGAAGAACTTTGAAGACGTG c.1140
P E D W D K Q P V K V L V G K N F E D V p.380
. . . | 09. . . g.19949
GCTTTTGATGAGAAAAAAAACGTCTTTGTGGAGTTCT | ATGCCCCATGGTGTGGTCACTGC c.1200
A F D E K K N V F V E F Y | A P W C G H C p.400
. . . . . . g.20009
AAACAGTTGGCTCCCATTTGGGATAAACTGGGAGAGACGTACAAGGACCATGAGAACATC c.1260
K Q L A P I W D K L G E T Y K D H E N I p.420
. . . . . . g.20069
GTCATCGCCAAGATGGACTCGACTGCCAACGAGGTGGAGGCCGTCAAAGTGCACAGCTTC c.1320
V I A K M D S T A N E V E A V K V H S F p.440
. . . | 10 . . g.20459
CCCACACTCAAGTTCTTTCCTGCCAGTGCCGACAGGACG | GTCATTGATTACAACGGGGAA c.1380
P T L K F F P A S A D R T | V I D Y N G E p.460
. . . . . . g.20519
CGCACGCTGGATGGTTTTAAGAAATTCCTGGAGAGCGGTGGCCAGGATGGGGCAGGGGAT c.1440
R T L D G F K K F L E S G G Q D G A G D p.480
| 11 . . . . . . g.21630
GATGAC | GATCTCGAGGACCTGGAAGAAGCAGAGGAGCCAGACATGGAGGAAGACGATGAT c.1500
D D | D L E D L E E A E E P D M E E D D D p.500
. . g.21657
CAGAAAGCTGTGAAAGATGAACTGTAA c.1527
Q K A V K D E L X p.508
. . . . . . g.21717
tacgcaaagccagacccgggcgctgccgagacccctcgggggctgcacacccagcagcag c.*60
. . . . . . g.21777
cgcacgcctccgaagcctgcggcctcgcttgaaggagggcgtcgccggaaacccagggaa c.*120
. . . . . . g.21837
cctctctgaagtgacacctcacccctacacaccgtccgttcacccccgtctcttccttct c.*180
. . . . . . g.21897
gcttttcggtttttggaaagggatccatctccaggcagcccaccctggtggggcttgttt c.*240
. . . . . . g.21957
cctgaaaccatgatgtactttttcatacatgagtctgtccagagtgcttgctaccgtgtt c.*300
. . . . . . g.22017
cggagtctcgctgcctccctcccgcgggaggtttctcctctttttgaaaattccgtctgt c.*360
. . . . . . g.22077
gggatttttagacatttttcgacatcagggtatttgttccaccttggccaggcctcctcg c.*420
. . . . . . g.22137
gagaagcttgtcccccgtgtgggagggacggagccggactggacatggtcactcagtacc c.*480
. . . . . . g.22197
gcctgcagtgtcgccatgactgatcatggctcttgcatttttgggtaaatggagacttcc c.*540
. . . . . . g.22257
ggatcctgtcagggtgtcccccatgcctggaagaggagctggtggctgccagccctgggg c.*600
. . . . . . g.22317
cccggcacaggcctgggccttccccttccctcaagccagggctcctcctcctgtcgtggg c.*660
. . . . . . g.22377
ctcattgtgaccactggcctctctacagcacggcctgtggcctgttcaaggcagaaccac c.*720
. . . . . . g.22437
gacccttgactcccgggtggggaggtggccaaggatgctggagctgaatcagacgctgac c.*780
. . . . . . g.22497
agttcttcaggcatttctatttcacaatcgaattgaacacattggccaaataaagttgaa c.*840
. g.22511
attttaccacctgt c.*854
(downstream sequence)
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