(used for variant description)
(last modified October 29, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_020655.2 in the JPH3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009797.1, covering JPH3 transcript NM_020655.2.
(upstream sequence)
. g.5014
gtctccagcgggag c.-241
. . . . . . g.5074
cgcgagacgctggtcaggctccgcggcgcagctcgaaaaggaataatcgcccccgattga c.-181
. . . . . . g.5134
ctgaaattcctccggagccggcgccgcggccgcccgcgcccgagaccgcgctccggggcc c.-121
. . . . . . g.5194
gcgtcctcctctcctccggaaaacgctcgcgacccagggccgccggcggccgcgactctg c.-61
. . . . . . g.5254
ctgtgtcgatcgcctgagtccgttttcaccgtttgcgggatctggaaccgagttacatgc c.-1
. . . . . . g.5314
ATGTCCAGTGGGGGCAGGTTTAATTTTGACGACGGAGGGTCCTACTGTGGAGGCTGGGAG c.60
M S S G G R F N F D D G G S Y C G G W E p.20
. . . . . . g.5374
GACGGCAAGGCGCACGGCCATGGCGTCTGCACCGGCCCCAAGGGCCAAGGCGAATACACC c.120
D G K A H G H G V C T G P K G Q G E Y T p.40
. . . . . . g.5434
GGCTCGTGGAGCCACGGCTTCGAGGTGCTGGGCGTCTACACCTGGCCCAGCGGCAACACG c.180
G S W S H G F E V L G V Y T W P S G N T p.60
. . . . . . g.5494
TACCAGGGCACCTGGGCGCAGGGCAAGCGCCACGGCATCGGCCTGGAGAGCAAGGGGAAG c.240
Y Q G T W A Q G K R H G I G L E S K G K p.80
. . . . . . g.5554
TGGGTGTACAAGGGCGAGTGGACGCACGGATTCAAGGGGCGCTACGGGGTGCGGGAGTGC c.300
W V Y K G E W T H G F K G R Y G V R E C p.100
. . . . . . g.5614
GCGGGCAACGGGGCCAAATACGAAGGGACCTGGAGCAACGGGCTGCAGGACGGCTACGGG c.360
A G N G A K Y E G T W S N G L Q D G Y G p.120
. . | 02 . . . . g.46403
ACCGAGACCTACTCGGACGGAG | GGACCTACCAGGGCCAGTGGGTCGGTGGCATGCGCCAG c.420
T E T Y S D G G | T Y Q G Q W V G G M R Q p.140
. . . . . . g.46463
GGCTACGGCGTCCGGCAGAGCGTCCCGTATGGCATGGCCGCGGTCATCCGCTCACCCCTG c.480
G Y G V R Q S V P Y G M A A V I R S P L p.160
. . . . . . g.46523
AGGACGTCCATCAACTCCCTGCGCAGCGAGCACACCAACGGCACGGCGCTGCATCCCGAC c.540
R T S I N S L R S E H T N G T A L H P D p.180
. . . . . . g.46583
GCCTCTCCGGCGGTGGCCGGCAGCCCGGCCGTGTCCCGCGGGGGCTTCGTGCTCGTGGCC c.600
A S P A V A G S P A V S R G G F V L V A p.200
. . . . . . g.46643
CACAGTGACTCCGAGATCCTCAAGAGCAAGAAGAAGGGGCTGTTTCGGCGCTCGCTGCTG c.660
H S D S E I L K S K K K G L F R R S L L p.220
. . . . . . g.46703
AGTGGGCTGAAGCTGCGCAAGTCGGAGTCCAAGAGCAGCCTGGCCAGCCAACGCAGCAAG c.720
S G L K L R K S E S K S S L A S Q R S K p.240
. . . . . . g.46763
CAGAGCTCCTTTCGCAGCGAGGCGGGCATGAGCACCGTCAGCTCCACGGCCAGCGACATC c.780
Q S S F R S E A G M S T V S S T A S D I p.260
. . . . . . g.46823
CACTCCACCATCAGCCTGGGCGAGGCTGAGGCCGAGCTGGCGGTCATCGAGGACGACATC c.840
H S T I S L G E A E A E L A V I E D D I p.280
. . . . . . g.46883
GACGCCACCACCACCGAGACCTACGTGGGCGAGTGGAAGAACGACAAACGCTCCGGCTTC c.900
D A T T T E T Y V G E W K N D K R S G F p.300
. . . . . . g.46943
GGCGTGAGCCAGCGCTCGGACGGGCTCAAGTACGAGGGCGAGTGGGCCAGCAACCGGCGC c.960
G V S Q R S D G L K Y E G E W A S N R R p.320
. . . . . . g.47003
CATGGCTACGGCTGCATGACCTTCCCGGACGGCACCAAGGAGGAGGGCAAGTACAAGCAG c.1020
H G Y G C M T F P D G T K E E G K Y K Q p.340
. . . . . . g.47063
AACATCCTCGTCGGCGGCAAGCGCAAGAACCTCATCCCCCTGCGGGCCAGCAAGATCCGC c.1080
N I L V G G K R K N L I P L R A S K I R p.360
. . . . . . g.47123
GAGAAGGTGGACCGCGCCGTTGAGGCCGCTGAGCGGGCCGCCACCATCGCCAAGCAGAAG c.1140
E K V D R A V E A A E R A A T I A K Q K p.380
. . | 03 . . . . g.86289
GCTGAGATCGCGGCTTCCAG | GACCTCCCACTCTCGGGCAAAGGCCGAGGCAGCCCTCACA c.1200
A E I A A S R | T S H S R A K A E A A L T p.400
. . . . . . g.86349
GCAGCTCAGAAAGCCCAGGAGGAGGCGCGGATCGCCAGGATCACTGCCAAAGAGTTCTCC c.1260
A A Q K A Q E E A R I A R I T A K E F S p.420
. . | 04 . . . . g.91788
CCTTCCTTCCAGCACCGGGAAAACG | GGCTGGAGTACCAGAGGCCGAAGCGTCAGACCTCC c.1320
P S F Q H R E N G | L E Y Q R P K R Q T S p.440
. . . . . . g.91848
TGTGACGACATCGAGGTGCTGTCCACCGGGACACCCCTGCAGCAGGAGAGCCCCGAGCTG c.1380
C D D I E V L S T G T P L Q Q E S P E L p.460
. . . . . . g.91908
TACCGCAAGGGCACCACTCCCTCCGACCTGACCCCCGACGACAGCCCCCTGCAGAGCTTC c.1440
Y R K G T T P S D L T P D D S P L Q S F p.480
. . . . . . g.91968
CCCACCAGCCCCGCGGCCACCCCGCCGCCCGCGCCCGCCGCCAGGAACAAGGTCGCCCAC c.1500
P T S P A A T P P P A P A A R N K V A H p.500
. . . . . . g.92028
TTCTCGAGGCAGGTGTCGGTGGACGAGGAGCGGGGCGGGGACATCCAGATGCTCCTGGAG c.1560
F S R Q V S V D E E R G G D I Q M L L E p.520
. . . . . . g.92088
GGCCGGGCCGGGGACTGCGCCCGCAGCAGCTGGGGCGAGGAGCAGGCCGGGGGCTCCAGG c.1620
G R A G D C A R S S W G E E Q A G G S R p.540
. . . . . . g.92148
GGTGTCCGCAGCGGTGCCCTGCGCGGCGGCCTGCTCGTGGATGACTTCCGCACCCGAGGT c.1680
G V R S G A L R G G L L V D D F R T R G p.560
. . . . . . g.92208
TCGGGCCGCAAGCAGCCCGGGAACCCCAAGCCGCGGGAGCGGCGGACGGAGTCACCCCCC c.1740
S G R K Q P G N P K P R E R R T E S P P p.580
. . . . . . g.92268
GTGTTCACGTGGACTTCCCACCACCGGGCCAGCAACCACAGCCCCGGAGGCTCCAGGCTG c.1800
V F T W T S H H R A S N H S P G G S R L p.600
. . . . . . g.92328
CTGGAGCTGCAGGAGGAGAAGCTGAGCAACTACCGGATGGAGATGAAACCCTTGCTGAGG c.1860
L E L Q E E K L S N Y R M E M K P L L R p.620
. . . . . . g.92388
ATGGAGACGCATCCCCAGAAAAGACGCTACAGCAAGGGCGGCGCCTGCCGGGGCTTGGGG c.1920
M E T H P Q K R R Y S K G G A C R G L G p.640
. . . . . . g.92448
GACGACCACCGCCCCGAGGACCGGGGCTTCGGGGTGCAGAGACTGCGGTCCAAGGCCCAG c.1980
D D H R P E D R G F G V Q R L R S K A Q p.660
. . . . . . g.92508
AACAAGGAGAACTTCAGGCCGGCCTCCTCCGCGGAGCCCGCCGTGCAGAAACTGGCGAGC c.2040
N K E N F R P A S S A E P A V Q K L A S p.680
. . . . . . g.92568
CTGCGGCTGGGCGGGGCCGAGCCCCGGTTGCTGCGTTGGGACTTGACCTTCTCCCCGCCC c.2100
L R L G G A E P R L L R W D L T F S P P p.700
. . . . . . g.92628
CAGAAATCCTTGCCTGTCGCTCTAGAGTCCGACGAGGAGAATGGGGATGAGCTCAAGTCC c.2160
Q K S L P V A L E S D E E N G D E L K S p.720
| 05 . . . . . . g.98741
AGTACG | GGCTCAGCGCCTATCCTGGTGGTCATGGTGATCTTGCTCAACATCGGAGTCGCC c.2220
S T | G S A P I L V V M V I L L N I G V A p.740
. . g.98768
ATTCTGTTTATTAACTTTTTCATCTGA c.2247
I L F I N F F I X p.748
. . . . . . g.98828
tgagatgtcgcggtagcaaaaatagagaaagggtagaaaaaagggacattaaaattaaaa c.*60
. . . . . . g.98888
gcaaaaccacaagaagggaaagaccgcaactcggacagcccagcgacttccaagtcctct c.*120
. . . . . . g.98948
cacagaagaaccacacgattgggtatcactcacagtttgcctttttttctgggtaatgtt c.*180
. . . . . . g.99008
ttttggattttagccaaaattctttgcttgtataacactctgctgtgtggcatggcagaa c.*240
. . . . . . g.99068
ggaggccagcacgcagcccctccagctccacgtggagacagaagggatcccggcacatca c.*300
. . . . . . g.99128
gtggtaacagcggacgttgtcctcgtggtcacacgtcccgtcttgggtgtggatggaggg c.*360
. . . . . . g.99188
cagcccggggcagagcctcagccccgcggcccctgagtggcagggctgactcccgtcgac c.*420
. . . . . . g.99248
acgagcttagaaagtggattcactgctttctctgtctagaacagacgggtgacaagtatg c.*480
. . . . . . g.99308
ggcaggaggcatggggcagggtggcccaccccagtgggcagtagcctggcctttttctgt c.*540
. . . . . . g.99368
gtgagatctgtgctgcacacctgagggagggggagggatcggccacctcctccctgtgag c.*600
. . . . . . g.99428
acggatgcaggtccttccctcttctcggcactgcccccggccttccatgagaagccgact c.*660
. . . . . . g.99488
ccccacaccgagttttaaagcaaagcccttttcttctgctgcccactcactgtgggtccc c.*720
. . . . . . g.99548
attcggctgtttcccccaccagaccccagggaagccggggcccactccgatccgcctggg c.*780
. . . . . . g.99608
ctcagctaagcacggaagccaagggggctgtgccgtggagctgggctcgcgccggggctc c.*840
. . . . . . g.99668
tgggtgtgtgcgcttggcgtgcagggtggacgcgtggggttccgtgtccccagcagtgag c.*900
. . . . . . g.99728
ggccctagaggacgccttctcccatggttactgatctccacgggttttcacatctctgta c.*960
. . . . . . g.99788
ctgtgcctgcctcaacttcccctaacagatatgcatattccttccagatgcctcagtgct c.*1020
. . . . . . g.99848
acaccacagtgggcctggtcccaggacaggaatgcggttcaaacccagtggcttgaaact c.*1080
. . . . . . g.99908
tcctgagaaactgtagcatatccagccccctaaaatgtacaatgtaacttgttcagtcca c.*1140
. . . . . . g.99968
acaaaaacaggttccttatgtttctgccttctccaccagggtcgctccatcacccaaaca c.*1200
. . . . . . g.100028
aaagaacaaggtttgccaggatgtccgagtgccccctggccctggctctcgtgtgcatgg c.*1260
. . . . . . g.100088
acgtgcctgaggggtccgggcacggccatacgcaggacccctgtgcccggggaggcgctg c.*1320
. . . . . . g.100148
cagggattccccatccggtcgtcttggggccagcccgtcttatggactctgccttgcttt c.*1380
. . . . . . g.100208
gcttatgtttagctgtttctctgctacctttcgagcagacttctttactacactgcactg c.*1440
. . . . . g.100264
gattgctatatttttaaccagaaataaactaaagattagagcatgttccagttaaa c.*1496
(downstream sequence)
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