(used for variant description)
(last modified January 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002230.2 in the JUP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009090.2, covering JUP transcript NM_002230.2.
(upstream sequence)
. g.5013
tgagttgctgcct c.-121
. . . . . . g.5073
tggccagagtccggagcagccgccgcccgaccacgccgagctcagttcgctgtccgcgcc c.-61
. . . . . . | 02 g.19858
ggctcccaccccggcccgaccccgacccggcccggtcaggccccatactcag | tagccacg c.-1
. . . . . . g.19918
ATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATAC c.60
M E V M N L M E Q P I K V T E W Q Q T Y p.20
. . . . . . g.19978
ACCTACGACTCGGGTATCCACTCGGGCGCCAACACCTGCGTGCCCTCCGTCAGCAGCAAG c.120
T Y D S G I H S G A N T C V P S V S S K p.40
. . . . . . g.20038
GGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACACGCTCAAGAAAACCACCACT c.180
G I M E E D E A C G R Q Y T L K K T T T p.60
. . | 03 . . . g.22067
TACACCCAGGGGGTGCCCCCCAGCCAAG | GTGATCTGGAGTACCAGATGTCCACAACAGCC c.240
Y T Q G V P P S Q G | D L E Y Q M S T T A p.80
. . . . . . g.22127
AGGGCCAAACGGGTGCGGGAGGCCATGTGCCCTGGTGTGTCAGGCGAGGACAGCTCGCTT c.300
R A K R V R E A M C P G V S G E D S S L p.100
. . . . . . g.22187
CTGCTGGCCACCCAGGTGGAGGGGCAGGCCACCAACCTGCAGCGACTGGCCGAGCCGTCC c.360
L L A T Q V E G Q A T N L Q R L A E P S p.120
. . . . . . g.22247
CAGCTGCTCAAGTCGGCCATTGTGCATCTCATCAACTACCAGGACGATGCCGAGCTGGCC c.420
Q L L K S A I V H L I N Y Q D D A E L A p.140
. . . . | 04 . g.22517
ACTCGCGCCCTGCCCGAGCTCACCAAACTGCTCAACGACGAGGACCCG | GTGGTGGTGACC c.480
T R A L P E L T K L L N D E D P | V V V T p.160
. . . . . . g.22577
AAGGCGGCCATGATTGTGAACCAGCTGTCGAAGAAGGAGGCGTCGCGGCGGGCCCTGATG c.540
K A A M I V N Q L S K K E A S R R A L M p.180
. . . . . . g.22637
GGCTCGCCCCAGCTGGTGGCCGCTGTCGTGCGTACCATGCAGAATACCAGCGACCTGGAC c.600
G S P Q L V A A V V R T M Q N T S D L D p.200
. . . . . . g.22697
ACAGCCCGCTGCACCACCAGCATCCTGCACAACCTCTCCCACCACCGGGAGGGGCTGCTC c.660
T A R C T T S I L H N L S H H R E G L L p.220
. . . . | 05. . g.24145
GCCATCTTCAAGTCGGGTGGCATCCCTGCTCTGGTCCGCATGCTCAG | CTCCCCTGTGGAG c.720
A I F K S G G I P A L V R M L S | S P V E p.240
. . . . . . g.24205
TCGGTCCTGTTCTATGCCATCACCACGCTGCACAACCTGCTCCTGTACCAGGAGGGCGCC c.780
S V L F Y A I T T L H N L L L Y Q E G A p.260
. . . . . . g.24265
AAGATGGCCGTGCGCCTGGCCGACGGGCTGCAAAAGATGGTGCCCCTGCTCAACAAGAAC c.840
K M A V R L A D G L Q K M V P L L N K N p.280
. . . . . . g.24325
AACCCCAAGTTCCTGGCCATCACCACCGACTGCCTGCAGCTCCTGGCCTACGGCAACCAG c.900
N P K F L A I T T D C L Q L L A Y G N Q p.300
| 06 . . . . . g.26696
GAGAGCAAG | CTGATCATCCTGGCCAATGGTGGGCCCCAGGCCCTCGTGCAGATCATGCGT c.960
E S K | L I I L A N G G P Q A L V Q I M R p.320
. . . . . . g.26756
AACTACAGTTATGAAAAGCTGCTCTGGACCACCAGTCGTGTGCTCAAGGTGCTATCCGTG c.1020
N Y S Y E K L L W T T S R V L K V L S V p.340
. . . | 07 . . . g.26922
TGTCCCAGCAATAAGCCTGCCATTGTGGAGGCTG | GTGGGATGCAGGCCCTGGGCAAGCAC c.1080
C P S N K P A I V E A G | G M Q A L G K H p.360
. . . . . . g.26982
CTGACCAGCAACAGCCCCCGCCTGGTGCAGAACTGCCTGTGGACCCTGCGCAACCTCTCA c.1140
L T S N S P R L V Q N C L W T L R N L S p.380
. | 08 . . . . g.28433
GATGTGGCCACCAAGCAG | GAGGGCCTGGAGAGTGTGCTGAAGATTCTGGTGAATCAGCTG c.1200
D V A T K Q | E G L E S V L K I L V N Q L p.400
. . . . . . g.28493
AGTGTGGATGACGTCAACGTCCTCACCTGTGCCACGGGCACACTCTCCAACCTGACATGC c.1260
S V D D V N V L T C A T G T L S N L T C p.420
. . . . . . g.28553
AACAACAGCAAGAACAAGACGCTGGTGACACAGAACAGCGGTGTGGAGGCTCTCATCCAT c.1320
N N S K N K T L V T Q N S G V E A L I H p.440
. . . . . . g.28613
GCCATCCTGCGTGCTGGTGACAAGGACGACATCACGGAGCCTGCCGTCTGCGCTCTGCGC c.1380
A I L R A G D K D D I T E P A V C A L R p.460
. . . . . . g.28673
CACCTCACTAGCCGCCACCCTGAGGCCGAGATGGCCCAGAACTCTGTGCGTCTCAACTAT c.1440
H L T S R H P E A E M A Q N S V R L N Y p.480
. . . . . | 09. g.32845
GGCATCCCAGCCATCGTGAAGCTGCTCAACCAGCCCAACCAGTGGCCACTGGTCAAG | GCA c.1500
G I P A I V K L L N Q P N Q W P L V K | A p.500
. . . . . . g.32905
ACCATCGGCTTGATCAGGAATCTGGCCCTGTGCCCAGCCAACCATGCCCCGCTGCAGGAG c.1560
T I G L I R N L A L C P A N H A P L Q E p.520
. . . . . . g.32965
GCAGCGGTCATCCCCCGCCTCGTCCAACTGCTGGTGAAGGCCCACCAGGATGCCCAGCGC c.1620
A A V I P R L V Q L L V K A H Q D A Q R p.540
. . . | 10 . . . g.33221
CACGTAGCTGCAGGCACACAGCAGCCCTACACG | GATGGTGTGAGGATGGAGGAGATTGTG c.1680
H V A A G T Q Q P Y T | D G V R M E E I V p.560
. . . . . . g.33281
GAGGGCTGCACCGGAGCACTGCACATCCTCGCCCGGGACCCCATGAACCGCATGGAGATC c.1740
E G C T G A L H I L A R D P M N R M E I p.580
. . . | 11 . . . g.33955
TTCCGGCTCAACACCATTCCCCTGTTTGTGCAG | CTCCTGTACTCGTCGGTGGAGAACATC c.1800
F R L N T I P L F V Q | L L Y S S V E N I p.600
. . . . . . g.34015
CAGCGCGTGGCTGCCGGGGTGCTGTGTGAGCTGGCCCAGGACAAGGAGGCGGCCGACGCC c.1860
Q R V A A G V L C E L A Q D K E A A D A p.620
. . . . . . g.34075
ATTGATGCAGAGGGGGCCTCGGCCCCACTCATGGAGTTGCTGCACTCCCGCAACGAGGGC c.1920
I D A E G A S A P L M E L L H S R N E G p.640
| 12 . . . . . . g.34232
ACTG | CCACCTACGCTGCTGCCGTCCTGTTCCGCATCTCCGAGGACAAGAACCCAGACTAC c.1980
T A | T Y A A A V L F R I S E D K N P D Y p.660
. . . . . . g.34292
CGGAAGCGCGTGTCCGTGGAGCTCACCAACTCCCTCTTCAAGCATGACCCGGCTGCCTGG c.2040
R K R V S V E L T N S L F K H D P A A W p.680
| 13 . . . . | 14 . . g.35831
GAGGCT | GCCCAGAGCATGATTCCCATCAATGAGCCCTATGGAGATG | ACATGGATGCCACC c.2100
E A | A Q S M I P I N E P Y G D D | M D A T p.700
. . . . . . g.35891
TACCGCCCCATGTACTCCAGCGATGTGCCCCTTGACCCGCTGGAGATGCACATGGACATG c.2160
Y R P M Y S S D V P L D P L E M H M D M p.720
. . . . . . g.35951
GATGGAGACTACCCCATCGACACCTACAGCGACGGCCTCAGGCCCCCGTACCCCACTGCA c.2220
D G D Y P I D T Y S D G L R P P Y P T A p.740
. g.35969
GACCACATGCTGGCCTAG c.2238
D H M L A X p.745
. . . . . . g.36029
gcggcctggccccagtacggccccctctttgcaggcttttcctcctctctagaacctcct c.*60
. . . . . . g.36089
tctgttggaggccctcccatctccccgctgaaacctgcgctccttttttggggggatcct c.*120
. . . . . . g.36149
ttgctgctgagcttccccaagcacggtgtgccctggcctgccttcttcttgtgtctttgg c.*180
. . . . . . g.36209
tggggatggggaggcctattcctgctggccccttctgggggtggtgggcaggtgacacgg c.*240
. . . . . . g.36269
agtggcttgagcttctggggatgcaggtccaccgagcccctgacccctgtctgtccccgc c.*300
. . . . . . g.36329
tcccctaacaggtgcggttcctcatctgagaggctctccgtgcaggcgatggggcaagac c.*360
. . . . . . g.36389
agaaaagtgcctgagctggggaagccggggtgtaacttcctgctgcaccctgcgcctcca c.*420
. . . . . . g.36449
gaggtcctccgtagggtctttcttgggatagtgttctgctcctgcttttctgtcctgggc c.*480
. . . . . . g.36509
atgggtccagggcctgacaccccctccccgcccctgtggccctggccactaaagcttcag c.*540
. . . . . . g.36569
actcaagtacccattctgttttcccccagcaacgcccctccaaacctccagcctccctgt c.*600
. . . . . . g.36629
ctccagctgcctgggcccggaagggctttggttccttctctgggtctgattttctcactg c.*660
. . . . . . g.36689
aactccaccgaccaactgccctaagcccccagggcctccagggcccaggttcgagaccca c.*720
. . . . . . g.36749
aacccccaaaatccaaaacttctcttgaaaagttcagggaccgtccaggggagatgggga c.*780
. . . . . . g.36809
ggagatatggagtgagtcacctgctccagaagatgccagcttctctctccagggtgctta c.*840
. . . . . . g.36869
gttggctttgcccacccctcactccccagggagctctggggacagcttcctcacacccct c.*900
. . . . . . g.36929
gtcccacccacacagctgccctagctgaccccgagaagtgctcttggctgacccctctgg c.*960
. . . . . . g.36989
tgtgtggtgaggggctttctcttccccttcctgtttcagacccccccatttcccgcacat c.*1020
. . . . . . g.37049
ggtgtggggggctgggggaggtccaagcagagtgttttattattatcgctttatgttttt c.*1080
. . . . . g.37106
ggttattggtttttttgtatagaccaaagcaaagaaaataaaaataacacagatgcg c.*1137
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14c
©2004-2016 Leiden University Medical Center