(used for variant description)
(last modified February 1, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_177938.2 in the P4HTM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering P4HTM transcript NM_177938.2.
(upstream sequence)
. . . . g.5049
agagggcgtcttcacgcaggcaccgagaagctcccactagtgtatgcct c.-301
. . . . . . g.5109
taatggtgccgctcttgtccgcgtctacgcttgggaccttggcttctgacttggagagtg c.-241
. . . . . . g.5169
tacagctctgcccgacggcaacccagcttgggaagagaagccccagcgtgggctggggct c.-181
. . . . . . g.5229
caaggcgcaggaaggccgagcccggcgcggacgcaggcggctccgggcgggctcagcacc c.-121
. . . . . . g.5289
cccaggcaccgtctcctagtgaccgcggcgctcgcgggcctggcggccgttgtccgggcg c.-61
. . . . . . g.5349
actgcgcagcgcgggcacccccgcggcccctcccctgggcgcgcgcgcgacctgggtgcc c.-1
. . . . . . g.5409
ATGGCGGCAGCGGCGGTGACAGGCCAGCGGCCTGAGACCGCGGCGGCCGAGGAGGCCTCG c.60
M A A A A V T G Q R P E T A A A E E A S p.20
. . . . . . g.5469
AGGCCGCAGTGGGCGCCGCCAGACCACTGCCAGGCTCAGGCGGCGGCCGGGCTGGGCGAC c.120
R P Q W A P P D H C Q A Q A A A G L G D p.40
. . . . . . g.5529
GGCGAGGACGCACCGGTGCGTCCGCTGTGCAAGCCCCGCGGCATCTGCTCGCGCGCCTAC c.180
G E D A P V R P L C K P R G I C S R A Y p.60
. . . . . . g.5589
TTCCTGGTGCTGATGGTGTTCGTGCACCTGTACCTGGGTAACGTGCTGGCGCTGCTGCTC c.240
F L V L M V F V H L Y L G N V L A L L L p.80
. . . . . . g.5649
TTCGTGCACTACAGCAACGGCGACGAAAGCAGCGATCCCGGGCCCCAACACCGTGCCCAG c.300
F V H Y S N G D E S S D P G P Q H R A Q p.100
. . . . . | 02 . g.5931
GGCCCCGGGCCCGAGCCCACCTTAGGTCCCCTCACCCGGCTGGAGGGCATCAAG | GTGGGG c.360
G P G P E P T L G P L T R L E G I K | V G p.120
. . . . . . g.5991
CACGAGCGTAAGGTCCAGCTGGTCACCGACAGGGATCACTTCATCCGAACCCTCAGCCTC c.420
H E R K V Q L V T D R D H F I R T L S L p.140
. | 03 . . . . . g.16574
AAGCCGCTGCTCTTCG | AAATCCCCGGCTTCCTGACTGATGAAGAGTGTCGGCTCATCATC c.480
K P L L F E | I P G F L T D E E C R L I I p.160
. . . . . . g.16634
CATCTGGCGCAGATGAAGGGGTTACAGCGCAGCCAGATCCTGCCTACTGAAGAGTATGAA c.540
H L A Q M K G L Q R S Q I L P T E E Y E p.180
. . . . . . g.16694
GAGGCAATGAGCACTATGCAGGTCAGCCAGCTGGACCTCTTCCGGCTGCTGGACCAGAAC c.600
E A M S T M Q V S Q L D L F R L L D Q N p.200
. . | 04. . . . g.17625
CGTGATGGGCACCTTCAGCTCCGTGAG | GTTCTGGCCCAGACTCGCCTGGGAAATGGATGG c.660
R D G H L Q L R E | V L A Q T R L G N G W p.220
. . . . . . g.17685
TGGATGACTCCAGAGAGCATTCAGGAGATGTACGCCGCGATCAAGGCTGACCCTGATGGT c.720
W M T P E S I Q E M Y A A I K A D P D G p.240
| 05 . . . . . . g.19246
GACG | GAGTGCTGAGTCTGCAGGAGTTCTCCAACATGGACCTTCGGGACTTCCACAAGTAC c.780
D G | V L S L Q E F S N M D L R D F H K Y p.260
. . . . . . g.19306
ATGAGGAGCCACAAGGCAGAGTCCAGTGAGCTGGTGCGGAACAGCCACCATACCTGGCTC c.840
M R S H K A E S S E L V R N S H H T W L p.280
. . . . | 06. . g.19966
TACCAGGGTGAGGGTGCCCACCACATCATGCGTGCCATCCGCCAGAG | GGTGCTGCGCCTC c.900
Y Q G E G A H H I M R A I R Q R | V L R L p.300
. . . . . . g.20026
ACTCGCCTGTCGCCTGAGATCGTGGAGCTCAGCGAGCCGCTGCAGGTTGTTCGATATGGT c.960
T R L S P E I V E L S E P L Q V V R Y G p.320
. . . . . . g.20086
GAGGGGGGCCACTACCATGCCCACGTGGACAGTGGGCCTGTGTACCCAGAGACCATCTGC c.1020
E G G H Y H A H V D S G P V Y P E T I C p.340
. . . . . . g.20146
TCCCATACCAAGCTGGTAGCCAACGAGTCTGTACCCTTCGAGACCTCCTGCCGGCAAGTA c.1080
S H T K L V A N E S V P F E T S C R Q V p.360
. . . . . . g.20206
TCTCCCAACTGGGGGCTGCCTTCAATCCTCAGACCAGGAACACCCATGACACAGGCACAG c.1140
S P N W G L P S I L R P G T P M T Q A Q p.380
. . . . . | 07. g.20813
CCCTGCACTGTGGGCGTGCCCCTTGGCATGGGGCCAGGAGATCACTGGGTTATCCCG | GTA c.1200
P C T V G V P L G M G P G D H W V I P | V p.400
. . . . . . g.20873
AGCCCCTGGGAGCATCCACAACTGGGGACCTGCTCAGTGCCCCCCCTGCCTTACAGCTAC c.1260
S P W E H P Q L G T C S V P P L P Y S Y p.420
. . . . . . g.20933
ATGACAGTGCTGTTTTATTTGAACAACGTCACTGGTGGGGGCGAGACTGTTTTCCCTGTA c.1320
M T V L F Y L N N V T G G G E T V F P V p.440
. . | 08. . . . g.21189
GCAGATAACAGAACCTACGATGAAATG | AGTCTGATTCAGGATGACGTGGACCTCCGTGAC c.1380
A D N R T Y D E M | S L I Q D D V D L R D p.460
. . . . . . g.21249
ACACGGAGGCACTGTGACAAGGGAAACCTGCGTGTCAAGCCCCAACAGGGCACAGCAGTC c.1440
T R R H C D K G N L R V K P Q Q G T A V p.480
. . . | 09 . . . g.21808
TTCTGGTACAACTACCTGCCTGATGGGCAAG | GTTGGGTGGGTGACGTAGACGACTACTCG c.1500
F W Y N Y L P D G Q G | W V G D V D D Y S p.500
. . . . . . g.21868
CTGCACGGGGGCTGCCTGGTCACGCGCGGCACCAAGTGGATTGCCAACAACTGGATTAAT c.1560
L H G G C L V T R G T K W I A N N W I N p.520
. . . . . . g.21928
GTGGACCCCAGCCGAGCGCGGCAAGCGCTGTTCCAACAGGAGATGGCCCGCCTTGCCCGA c.1620
V D P S R A R Q A L F Q Q E M A R L A R p.540
. . . . . . g.21988
GAAGGGGGCACCGACTCACAGCCCGAGTGGGCTCTGGACCGGGCCTACCGCGATGCGCGC c.1680
E G G T D S Q P E W A L D R A Y R D A R p.560
. g.22000
GTGGAACTCTGA c.1692
V E L X p.563
. . . . . . g.22060
gggaagagttagccccggttcccagccgcgggtcgccagttgcccaagatcaggggtccg c.*60
. . . . . . g.22120
gctgtccttctgtcctgctgcagactaaaggtctggccaatgtcttgccccaccccgcca c.*120
. . . . . . g.22180
gccgcgatacggcgcagttcctatattcatgttatttattgtgtactgactccatctgcc c.*180
. . . . . . g.22240
ccgtcaaataaaaaaccacaaggttcgagccgccgggcccgacaaactccgggtcggcga c.*240
g.22242
aa c.*242
(downstream sequence)
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