(used for variant description)
(last modified October 26, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001143992.1 in the WRAP53 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering WRAP53 transcript NM_001143992.1.
(upstream sequence)
. . . g.7312
gtcccggctccgcgggttccgtgggtcgcccgcg c.-181
. . . . . . g.7372
aaatctgatccgggatgcggcggcccaatcggaaggtggaccgaaatcccgcgacagcaa c.-121
. . . . . . g.7432
gaggcccgtagcgacccgcggtgctaaggaacacagtgctttcaaaagaattggcgtccg c.-61
. . . . . . | 02 g.7578
ctgttcgcctctcctcccgggagtcttctgcctactcccagaagaggagggaagcacag | t c.-1
. . . . . . g.7638
ATGAAGACTTTGGAGACTCAACCGTTAGCTCCGGACTGCTGTCCTTCAGACCAGGACCCA c.60
M K T L E T Q P L A P D C C P S D Q D P p.20
. . . . . . g.7698
GCTCCAGCCCATCCTTCTCCCCACGCTTCCCCGATGAATAAAAATGCGGACTCTGAACTG c.120
A P A H P S P H A S P M N K N A D S E L p.40
. . . . . . g.7758
ATGCCACCGCCTCCCGAAAGGGGGGATCCGCCCCGGTTGTCCCCAGATCCTGTGGCTGGC c.180
M P P P P E R G D P P R L S P D P V A G p.60
. . . . . . g.7818
TCAGCTGTGTCCCAGGAGCTACGGGAGGGGGACCCAGTTTCTCTCTCCACTCCCCTGGAA c.240
S A V S Q E L R E G D P V S L S T P L E p.80
. . . . . . g.7878
ACAGAGTTTGGTTCCCCTAGTGAGTTGAGTCCTCGAATCGAGGAGCAAGAACTTTCTGAA c.300
T E F G S P S E L S P R I E E Q E L S E p.100
. . . . . . g.7938
AATACAAGCCTTCCTGCAGAAGAAGCAAACGGGAGCCTTTCTGAAGAAGAAGCGAACGGG c.360
N T S L P A E E A N G S L S E E E A N G p.120
. . . . . . g.7998
CCAGAGTTGGGGTCTGGAAAAGCCATGGAAGATACCTCTGGGGAACCCGCTGCAGAGGAC c.420
P E L G S G K A M E D T S G E P A A E D p.140
. | 03 . . . . . g.8202
GAGGGAGACAC | CGCTTGGAACTACAGCTTCTCCCAGCTGCCTCGATTTCTCAGTGGTTCC c.480
E G D T | A W N Y S F S Q L P R F L S G S p.160
. . . . . | 04 . g.8529
TGGTCAGAGTTCAGCACCCAACCTGAGAACTTCTTGAAAGGCTGTAAGTG | GGCTCCTGAC c.540
W S E F S T Q P E N F L K G C K W | A P D p.180
. . . . . . g.8589
GGTTCCTGCATCTTGACCAATAGTGCTGATAACATCTTGCGAATTTATAACCTGCCCCCA c.600
G S C I L T N S A D N I L R I Y N L P P p.200
. . . . | 05 . . g.19688
GAGCTGTACCATGAGGGGGAGCAGGTGGAATATGCAGAAATG | GTCCCTGTCCTTCGAATG c.660
E L Y H E G E Q V E Y A E M | V P V L R M p.220
. . . . . . g.19748
GTGGAAGGTGATACCATCTATGATTACTGCTGGTATTCTCTGATGTCCTCAGCCCAGCCA c.720
V E G D T I Y D Y C W Y S L M S S A Q P p.240
. | 06 . . . . . g.20437
GACACCTCCTA | CGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTC c.780
D T S Y | V A S S S R E N P I H I W D A F p.260
. . . . | 07 . . g.20604
ACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTG | GATGAGCTGACGGCAGCC c.840
T G E L R A S F R A Y N H L | D E L T A A p.280
. . . . . . g.20664
CATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTG c.900
H S L C F S P D G S Q L F C G F N R T V p.300
. . . . . | 08 . g.21278
CGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTG | CAAAA c.960
R V F S T A R P G R D C E V R A T F A | K p.320
. . . . . . g.21338
AAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTAT c.1020
K Q G Q S G I I S C I A F S P A Q P L Y p.340
. . . . . . g.21398
GCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTC c.1080
A C G S Y G R S L G L Y A W D D G S P L p.360
. . . . . . g.21458
GCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAAC c.1140
A L L G G H Q G G I T H L C F H P D G N p.380
. . | 09 . . . . g.21708
CGCTTCTTCTCAGGAGCCCGCAAG | GATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCT c.1200
R F F S G A R K | D A E L L C W D L R Q S p.400
. . . . . . g.21768
GGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGAT c.1260
G Y P L W S L G R E V T T N Q R I Y F D p.420
| 10 . . . . . g.21974
CTGGACCC | GACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGG c.1320
L D P | T G Q F L V S G S T S G A V S V W p.440
. . . . . . g.22034
GACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAG c.1380
D T D G P G N D G K P E P V L S F L P Q p.460
. . | 11 . . . . g.22209
AAGGACTGCACCAATGGCGTGAG | CCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCC c.1440
K D C T N G V S | L H P S L P L L A T A S p.480
. . . . . . g.22269
GGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTT c.1500
G Q R V F P E P T E S G D E G E E L G L p.500
. . . . . . g.22329
CCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGG c.1560
P L L S T R H V H L E C R L Q L W W C G p.520
. . . . . . g.22389
GGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACG c.1620
G A P D S S I P D D H Q G E K G Q G G T p.540
. . g.22416
GAGGGAGGTGTGGGTGAGCTGATATAA c.1647
E G G V G E L I X p.548
. g.22432
aaaggtttttatgata c.*16
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14
©2004-2015 Leiden University Medical Center