(used for variant description)
(last modified October 9, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_181784.2 in the SPRED2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SPRED2 transcript NM_181784.2.
(upstream sequence)
. . . . . g.5055
atccaatatggagtaaatcggtggagtcgagagatggggctcggacggggcgccc c.-481
. . . . . . g.5115
tgcaccgcctcccaggcgcacctcccccggccgccgaccgctccccggaaccgtgattgg c.-421
. . . . . . g.5175
cccggccccccgggggcgaccccggactgagcccccccacccgcggccggcgctctcctc c.-361
. . . . . . g.5235
ctcctcgcagcagtccctgccgctccgaggcgcgcttgtttttctcctgctctcccccac c.-301
. . . . . . g.5295
cgccgtccccttcccaaatctcgccccctctgcccgctcccgagcccccggagcctccgc c.-241
. . . . . . g.5355
ccgcctctccccacggcgctgcggcgttcactccccgcgcagcctgcctttgcacccctt c.-181
. . . . . . g.5415
cccccaaaccctatcccgcgccctgcttccccttctgctgcggcgccctcttcatctcta c.-121
. . . . . . g.5475
gccgccccccctccccaaatcaggcgatctccggagatgtgaagaaggggggcgagcgga c.-61
. . . . . . g.5535
caggaagatgaagggagcaaagctgcccgccgcgggacaggcgtctaggtgaacaagaaa c.-1
. . | 02 . . . . g.92660
ATGACCGAAGAAACACACCCAGACGA | TGACAGCTATATTGTGCGTGTCAAGGCTGTGGTT c.60
M T E E T H P D D | D S Y I V R V K A V V p.20
. . . . . . g.92720
ATGACCAGAGATGACTCCAGCGGGGGATGGTTCCCACAGGAAGGAGGCGGGATCAGTCGC c.120
M T R D D S S G G W F P Q E G G G I S R p.40
. . . . . . g.92780
GTCGGGGTCTGTAAGGTCATGCACCCCGAAGGCAATGGACGAAGCGGCTTTCTCATCCAT c.180
V G V C K V M H P E G N G R S G F L I H p.60
. . | 03 . . . . g.102785
GGTGAACGACAGAAAGACAAACTG | GTGGTATTGGAATGCTATGTAAGAAAGGACTTGGTC c.240
G E R Q K D K L | V V L E C Y V R K D L V p.80
. . . . . . g.102845
TACACCAAAGCCAATCCAACGTTTCATCACTGGAAGGTCGATAATAGGAAGTTTGGACTT c.300
Y T K A N P T F H H W K V D N R K F G L p.100
. . . . . . g.102905
ACTTTCCAAAGCCCTGCTGATGCCCGAGCCTTTGACAGGGGAGTAAGGAAAGCAATCGAA c.360
T F Q S P A D A R A F D R G V R K A I E p.120
. | 04 . . . . . g.105518
GACCTTATAGAAG | GTTCAACAACGTCATCTTCCACCATCCATAATGAAGCTGAGCTTGGC c.420
D L I E G | S T T S S S T I H N E A E L G p.140
. | 05 . . . . g.120681
GATGATGACGTTTTTACA | ACAGCTACAGACAGTTCTTCTAATTCCTCTCAGAAGAGAGAG c.480
D D D V F T | T A T D S S S N S S Q K R E p.160
. . . . . . g.120741
CAACCTACTCGGACAATCTCCTCTCCCACATCCTGTGAGCACCGGAGGATTTATACCCTG c.540
Q P T R T I S S P T S C E H R R I Y T L p.180
. . . . | 06 . g.123365
GGCCACCTCCACGACTCATACCCCACAGACCACTATCACCTCGATCAG | CCGATGCCAAGG c.600
G H L H D S Y P T D H Y H L D Q | P M P R p.200
. . . . . . g.123425
CCCTACCGCCAGGTGAGCTTCCCGGACGACGACGAGGAGATCGTGCGCATCAACCCCCGG c.660
P Y R Q V S F P D D D E E I V R I N P R p.220
. . . . . . g.123485
GAGAAGATCTGGATGACGGGGTACGAGGATTACCGGCACGCACCCGTCAGGGGCAAGTAC c.720
E K I W M T G Y E D Y R H A P V R G K Y p.240
. . . . . . g.123545
CCGGACCCCTCGGAGGACGCGGACTCCTCCTACGTGCGCTTCGCCAAGGGCGAGGTCCCC c.780
P D P S E D A D S S Y V R F A K G E V P p.260
. . . . . . g.123605
AAGCATGACTACAACTACCCCTACGTGGACTCCTCAGACTTTGGCCTAGGCGAGGACCCC c.840
K H D Y N Y P Y V D S S D F G L G E D P p.280
. . . . . . g.123665
AAAGGCCGCGGGGGCAGCGTGATCAAGACGCAGCCCTCCCGGGGCAAGTCGCGGCGGCGG c.900
K G R G G S V I K T Q P S R G K S R R R p.300
. . . . . . g.123725
AAGGAGGACGGAGAGCGCTCGCGGTGCGTGTACTGCAGGGACATGTTCAACCACGAGGAG c.960
K E D G E R S R C V Y C R D M F N H E E p.320
. . . . . . g.123785
AACCGCCGGGGCCACTGCCAGGACGCGCCCGACTCCGTGAGAACTTGCATCCGCCGGGTG c.1020
N R R G H C Q D A P D S V R T C I R R V p.340
. . . . . . g.123845
AGCTGCATGTGGTGCGCGGACAGCATGCTCTATCACTGTATGTCGGACCCCGAGGGAGAC c.1080
S C M W C A D S M L Y H C M S D P E G D p.360
. . . . . . g.123905
TATACAGACCCTTGCTCGTGCGATACTAGCGACGAGAAGTTTTGCCTCCGGTGGATGGCT c.1140
Y T D P C S C D T S D E K F C L R W M A p.380
. . . . . . g.123965
CTTATTGCCTTGTCTTTCCTGGCCCCCTGTATGTGCTGTTACCTGCCCCTTCGGGCCTGC c.1200
L I A L S F L A P C M C C Y L P L R A C p.400
. . . . . g.124022
TACCACTGCGGAGTGATGTGCAGGTGCTGTGGCGGGAAGCACAAAGCGGCCGCGTGA c.1257
Y H C G V M C R C C G G K H K A A A X p.418
. . . . . . g.124082
ctcagtttccctcccttctccctccatccgcagccacaggggaactcgtctcttacatac c.*60
. . . . . . g.124142
tctcatcttctcccccgctcccttccactccaaggagcgaggagggcaagcggcctccca c.*120
. . . . . . g.124202
gctccctggtacctcgaggcaccattccagccagggacgctgccgggtagactctccact c.*180
. . . . . . g.124262
ccccctgccgcccacactgcagcagccacatccatacacacacgctcgcacagtgttctg c.*240
. . . . . . g.124322
aggaaggaaccttcgccacagactcctgtactattaacaatctgtaaccaagctaactgt c.*300
. . . . . . g.124382
ctcatccatgtgttgatttcctgtttcctcctcccccgcctcttccagttcaaaggagtc c.*360
. . . . . . g.124442
tgcaattggaactgctgattttcggtgggttttgtagttgatttttccaagagcgtcgaa c.*420
. . . . . . g.124502
gactctctttctcttggttcaccttgcctgtcgctagcaagcatctggttcagcggaaat c.*480
. . . . . . g.124562
gggatgtgagaatgatgaaacccgacagaagtatctcagcctgcagtcagttattatgta c.*540
. . . . . . g.124622
taggaggtgagctagttaacaaacttgtaccacaaaacaatatcgctttaacttttctaa c.*600
. . . . . . g.124682
agccaaatttcccatgtaagctgcagtttctatctttagcccatcatcattttctgcccc c.*660
. . . . . . g.124742
cccaaaatctgttgaaatgattcactgatgcaaaacattcacccgtaatagactgagaat c.*720
. . . . . . g.124802
tgagccttaacttcagattaacttgtgagaatcaggaaaattccttcaactgcattgcat c.*780
. . . . . . g.124862
cctcttggaccagggctagaatggggatttcaggtttctatgagcctccccattacccct c.*840
. . . . . . g.124922
aaagtagaacattttttaaattgtgttgccaccacttctaaaaatttagcaatattagaa c.*900
. . . . . . g.124982
taggatactagtgaagtaagaaattttgcttgttgttttgcaaaccaaatagtttcctca c.*960
. . . . . . g.125042
aacacaaatcagtgttcccacgaacaagttccagttgagaaacactaaggttatggtgaa c.*1020
. . . . . . g.125102
taaaaccatagggagcttcttccccccaacccctggctattttatattaatggggagagg c.*1080
. . . . . . g.125162
ggatttttaaatgtcataaatttgaagagtggtgggttgcattttcttcatgggtttatg c.*1140
. . . . . . g.125222
ttttcgtttcattttggactcaatttcacatcaccaaattcctcatttatacttggggaa c.*1200
. . . . . . g.125282
aaaacaaggccatatgtaaaaacccttccaatgcctaagtgtctttctcctgcaactcca c.*1260
. . . . . . g.125342
aacccagactcgccactttgggtgcacaggtggttaggtcagccaactggttctgcctgt c.*1320
. . . . . . g.125402
cgccttgccacggaggaggcttctaattagctggaaaagagtatttttctaatacgttgc c.*1380
. . . . . . g.125462
aaggattagccaaatcttcttattgaagaaagaagaaaagtgaagagtggttacctatac c.*1440
. . . . . . g.125522
ctagcatagtacaatcagaacctcgtggagaccaccggggacaggcttgcggacgccggc c.*1500
. . . . . . g.125582
tgttcttcccgccacgatctttctgtggtagcggccagcagaagacatggcctgctcccc c.*1560
. . . . . . g.125642
actccctttccccactccttctttattgcacacaggacaccagtcttcaaggaaagggac c.*1620
. . . . . . g.125702
ttttttccagtctgccaatcatattgggaaagtgctagctgtgctcaccttcatggggct c.*1680
. . . . . . g.125762
gtttccagctcgtccacaagctcatcgattttctttagtagattaccggtgtaaataccc c.*1740
. . . . . . g.125822
agtgtgcttatgagtcagttagtagacgtcttcattcattggagtaactggtttaggctt c.*1800
. . . . . . g.125882
tccagtttggaaaaggagcagagagctgtccatctggattgatggaagaaaagagaacct c.*1860
. . . . . . g.125942
catccatgcctggagaacatctagaaaaccttcagccagcctccagtgctgtcgagagac c.*1920
. . . . . . g.126002
caccttcccccgacccggaggcacttccttggggtctttctctagggtctcttctctaca c.*1980
. . . . . . g.126062
aagcacaacactaatgttcgtttccttagacctcagttcaagtgcccctatttatttcaa c.*2040
. . . . . . g.126122
taagaacgcacatatcccagctgttttttgtttgtcacctctatttagttgttacctgtt c.*2100
. . . . . . g.126182
tctctcttctttcaccccttgtccttttccacccttttaagagttacgctagcagatctt c.*2160
. . . . . . g.126242
actccacgtatactttttggtttgtgaaggcatcggttaagggcacaaagacagccatgg c.*2220
. . . . . . g.126302
ggacatttatgtaaatacgtctctaattgccacactgcagctgaacagtgtgtagtattt c.*2280
. . . . . . g.126362
tcccagtcagctttgccatactgacgtcaatcatttgagagaaattattcagattttatt c.*2340
. . . . . . g.126422
tttgtatctgtggtaacaaaacattaaccaaaagattttctgtccagaagcctccccgac c.*2400
. . . . . . g.126482
cccccaagctatttgctcacattaacaaattaaagtgcctgaagcataattcattcttta c.*2460
. . . . . . g.126542
cctgtatactaaaaaccctgttgtattgatttttttataataagcctttttacctctgtg c.*2520
. . . . . . g.126602
taaaaaatatatatacaagtgtatgatgtacattttagttcttaacttttttttatggtt c.*2580
. . . . . . g.126662
tctaatatgtatgaccaatgtagccattgctttaaaatgtaccgtgtaaatataaacaca c.*2640
. g.126672
tcctatcaga c.*2650
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2021 Leiden University Medical Center