(used for variant description)
(last modified July 20, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014337.3 in the PPIL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering PPIL2 transcript NM_014337.3.
(upstream sequence)
. . . . . g.5056
gtttccggggcgcgccgcggaacccggaagtggtcacggaactcggctgcggctcc c.-61
. . . . . . g.5116
atggtctgagttgtcagccgttgttttttcgtgctcgctagtcgccgccgccgctccgcc c.-1
. . . | 02 . . . g.8957
ATGGGGAAGCGACAGCACCAAAAGGACAAAAT | GTACATTACCTGTGCTGAATACACTCAC c.60
M G K R Q H Q K D K M | Y I T C A E Y T H p.20
. . | 03 . . . . g.9620
TTTTATGGTGGCAAGAAGCCAG | ATCTCCCACAAACAAATTTTCGTCGTTTACCTTTTGAC c.120
F Y G G K K P D | L P Q T N F R R L P F D p.40
| 04 . . . . . g.10065
CACTGCAG | TCTCTCTCTGCAGCCCTTTGTCTACCCAGTCTGCACTCCCGATGGCATCGTC c.180
H C S | L S L Q P F V Y P V C T P D G I V p.60
. | 05 . . . . . g.11395
TTTGACTTACT | GAACATTGTTCCATGGCTTAAGAAGTACGGGACCAACCCCAGCAATGGA c.240
F D L L | N I V P W L K K Y G T N P S N G p.80
| 06 . . . . . | 07 . g.20320
GAG | AAGCTGGACGGGAGGTCCCTGATCAAGCTGAACTTTTCCAAGAACAGTGAGG | GGAAG c.300
E | K L D G R S L I K L N F S K N S E G | K p.100
. . . . . . g.20380
TACCACTGCCCAGTGCTGTTTACCGTGTTCACCAACAACACCCACATCGTGGCTGTGAGG c.360
Y H C P V L F T V F T N N T H I V A V R p.120
. . | 08. . . . g.21486
ACGACCGGCAACGTCTACGCCTATGAG | GCAGTGGAACAGCTAAATATCAAGGCCAAGAAC c.420
T T G N V Y A Y E | A V E Q L N I K A K N p.140
. . . . . | 09. g.22201
TTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAG | GAC c.480
F R D L L T D E P F S R Q D I I T L Q | D p.160
. . . . . . g.22261
CCCACCAATTTGGACAAGTTCAATGTCTCTAACTTCTATCATGTGAAGAATAACATGAAA c.540
P T N L D K F N V S N F Y H V K N N M K p.180
. | 10 . . . . . g.23816
ATAATAGACCCAG | ATGAAGAGAAGGCCAAACAGGACCCGTCTTATTATCTGAAAAATACA c.600
I I D P D | E E K A K Q D P S Y Y L K N T p.200
. . . . . . g.23876
AATGCCGAGACCCGAGAGACCCTGCAGGAGCTCTACAAGGAGTTCAAAGGGGACGAGATT c.660
N A E T R E T L Q E L Y K E F K G D E I p.220
. . . . . | 11 . g.25505
CTGGCAGCCACCATGAAGGCCCCGGAGAAGAAGAAAGTGGACAAGCTGAACGCT | GCCCAC c.720
L A A T M K A P E K K K V D K L N A | A H p.240
. . . . . . g.25565
TATTCCACAGGGAAGGTCAGCGCTTCCTTCACCTCCACCGCGATGGTCCCGGAGACCACA c.780
Y S T G K V S A S F T S T A M V P E T T p.260
. | 12 . . . . . g.25958
CATGAAGCAG | CTGCCATCGACGAGGATGTGCTGCGCTACCAGTTTGTGAAGAAGAAGGGC c.840
H E A A | A I D E D V L R Y Q F V K K K G p.280
. . . . . | 13. g.26662
TACGTGCGGCTGCACACCAACAAGGGCGACCTCAACCTGGAGCTGCACTGCGACCTG | ACA c.900
Y V R L H T N K G D L N L E L H C D L | T p.300
. . . . . . g.26722
CCAAAAACCTGCGAAAACTTCATCAGGCTTTGCAAGAAGCATTATTACGATGGCACCATC c.960
P K T C E N F I R L C K K H Y Y D G T I p.320
. . | 14. . . . g.27122
TTCCACAGATCCATCCGGAACTTTGTG | ATCCAAGGGGGCGACCCCACAGGCACAGGCACG c.1020
F H R S I R N F V | I Q G G D P T G T G T p.340
| 15 . . . . . . g.27807
G | GTGGGGAGTCATACTGGGGGAAGCCCTTCAAAGACGAGTTCCGGCCCAACCTCTCGCAC c.1080
G | G E S Y W G K P F K D E F R P N L S H p.360
. . . . . | 16 g.32833
ACGGGCCGCGGCATCCTCAGCATGGCCAACTCCGGGCCCAACAGCAACAGGTCTCAATT | C c.1140
T G R G I L S M A N S G P N S N R S Q F | p.380
. . . . . | 17 . g.33613
TTCATCACGTTTCGCTCCTGTGCCTACCTGGACAAGAAGCATACCATCTTTGGACG | GGTT c.1200
F I T F R S C A Y L D K K H T I F G R | V p.400
. . . . . . g.33673
GTTGGGGGCTTTGACGTACTGACAGCCATGGAGAATGTGGAGAGTGACCCCAAAACTGAC c.1260
V G G F D V L T A M E N V E S D P K T D p.420
| 18 . . . . . g.33822
CGCCCTAAG | GAGGAGATCCGCATTGATGCCACTACAGTGTTCGTGGACCCCTATGAGGAG c.1320
R P K | E E I R I D A T T V F V D P Y E E p.440
. | 19 . . . . . g.34001
GCCGATGCCCAG | ATTGCGCAGGAGCGGAAGACACAGCTCAAGGTAGCCCCGGAGACCAAA c.1380
A D A Q | I A Q E R K T Q L K V A P E T K p.460
. . . . . . g.34061
GTGAAGAGCAGCCAGCCCCAGGCAGGGAGCCAGGGCCCCCAGACCTTCCGCCAGGGCGTG c.1440
V K S S Q P Q A G S Q G P Q T F R Q G V p.480
. . | 20 . . . . g.34444
GGCAAGTACATCAACCCAGCAGCCAC | GAAGCGAGCAGCAGAGGAAGAGCCCTCAACCAGT c.1500
G K Y I N P A A T | K R A A E E E P S T S p.500
. . . . . . g.34504
GCCACTGTCCCCATGTCCAAGAAGAAGCCCAGTCGGGGTTTTGGGGACTTCAGCTCCTGG c.1560
A T V P M S K K K P S R G F G D F S S W p.520
g.34507
TAG c.1563
X p.520
. . . . . . g.34567
cagcaggttggccgctgtggaccttggtggggttgcagggctgggggcccatgtccacat c.*60
. . . . . . g.34627
ctccatttccagcctttctagcctgccctctgctgccagccaataaattgcttgcctgct c.*120
. . . . . . g.34687
gcctgcatcccctttcctggcccctgggagcccacagccttcccatcccttaacctgttg c.*180
. . . . . . g.34747
ccaagggccttggccctgtttccaggacctggcccagccagagcccactgctgggacctt c.*240
. . . . . . g.34807
caagcacaaggcctgccctacacccaggctggtgcctcaggcctcccctctagtaggcag c.*300
. . . . . . g.34867
gccaggttagtgaggaaggactgtgtctccagattgtggtttcctctttaagacagggtc c.*360
. . . . . . g.34927
ttgctctgttgcccaggctccagtgcagtggtgtgatcatggctcactgcagcctcgacc c.*420
. . . . . . g.34987
tcctgggctcaagcaatcctcctgcctcagcctcgcaagtagctgggactacagccgtgc c.*480
. . . . . . g.35047
accactacatccagctgtatatgtctggttttcttacccctacttctgtcatcttctcag c.*540
. . . . . . g.35107
ggacagcctatttatacaaccagtgtggtcccctgaccaacgccattacctgggacaagt c.*600
. . . . . . g.35167
tttcagaccccagacttactgagcctaagcctctgcagggtgggcttctcggtctgtttt c.*660
. . . . . . g.35227
gacaaaacttcaggggcttctgaaggctggtgttggacggcagcattgagtttcctgccg c.*720
. . . . . . g.35287
tgccctgcctgagctctcagggccctgctcacctgctctggctgtgaaccacctgggctt c.*780
. . . . . . g.35347
catctcaagcctgcctggcgtctctgtgcccctgtgagaatcttgaggggacccacactg c.*840
. . . . . . g.35407
ggttgaggccagtgtctcctgctgtgagaacaagtggatgtccctctccccgccctcctg c.*900
. . . . . . g.35467
ctgaagtggccttgctgctctcaggcccggccactgggctccaagactctgctcctcctg c.*960
. . . . . . g.35527
tcagtcactgactctgatggccttgggccagctgcatcagcagcccttaaagaaagaccc c.*1020
. . . . . . g.35587
ctccctcaacccccatttttctgttaaatgtgcccctggctggctttttcttcgtcttca c.*1080
. . . . . . g.35647
gcccaggccagtggtcagtgttctcatgtcatggactctccttgcctgacacttgcctct c.*1140
. . . . . . g.35707
tgggctccctgttgccctcaggccaccccccacttctagttcttcacactaagccctaac c.*1200
. . . . . . g.35767
ttaggccttgttcttggttttctcatttttgttgccccaaatcttgaacctgtcagcaac c.*1260
. . . . . . g.35827
ttgcaggctgtacctctgcccttccttttctcatcaatcactgatgctgaagctgcaggc c.*1320
. . . . . . g.35887
ctgagccctttgtctccctggatgctgggtggcgcctcatctgcatctctgcctcacccc c.*1380
. . . . . . g.35947
atccactgccacaggctgcctgatgaccactagaggtatgtctgcccctcgtcaccctgc c.*1440
. . . . . . g.36007
tgcacaccaatctgtggcccttcatcatgctaagaacaagaactgcgccatggctggctc c.*1500
. . . . . . g.36067
cttctcttctccagcccatccctctgcagcctgtcatccctgtctgtgaccattggtcgg c.*1560
. . . . . . g.36127
gcccctgggctctagagtgacttttgacgccctccatccctcccgccaggcactgtcctc c.*1620
. . . . . . g.36187
cgcaaggcctggtgcagccctggcagtaactggcttgtaagaggctcagacaccaagctg c.*1680
. . . . . . g.36247
ggcctgcagaggaggggcacagtaggacacagtgactgcccaggtgtccacacacctgta c.*1740
. . . . . . g.36307
ggcctctgagccagcgtccagggtacaggtgcgggtggtggggatgaaggcctgaccagg c.*1800
. . . . . . g.36367
gagggagaagcaggtttggagaggaccctgtgcccaccctgacagacaccctggctggcc c.*1860
. . . . . . g.36427
ctgactgactgtattctctggccacattcaagtcccccattggtgggggcagagaagtag c.*1920
. . . . . . g.36487
gaccaggccatccttggctccagagctcgaagaccccaagacagccctctgctctcagcg c.*1980
. . . . . . g.36547
gcgccacagagagcctgggctcagccttctgcatcaggacatggcctcgtccactgaggg c.*2040
. . . . . . g.36607
cacgatttaaacatttgacatcagaagctttatttgtaaacctcacacagataaggacca c.*2100
. . . . . . g.36667
agggctggcggtgtggccagaggacaggggaagctgaaggccccgtgcttgagctcggca c.*2160
. . . . . . g.36727
gtcctgctccttgcagtgaagccaccatgggtgaccgtccagcctcacccggtggcctgc c.*2220
. . . . . . g.36787
acagtgagggaagggcttcagggccatctgctcccagggcaggggacaggccaccaagga c.*2280
. . . . . . g.36847
cctttggcaaatgaaggtttacatttctgtagtttgtttgttttagagcttaatttgtag c.*2340
. . . . . . g.36907
ttttttagctattaaaaccatttgaatttttaacgacctgatgagggcatcaggtaaatt c.*2400
. . g.36930
aaaggattttgggaagattctta c.*2423
(downstream sequence)
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