(used for variant description)
(last modified December 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005086.4 in the SSPN gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012011.1, covering SSPN transcript variant-1 (NM_005086.4). The SSPN gene uses an alternative promoter/exon 01b in the 5' upstream region generating SSPN transcript variant- 2 (NM_001135823.1), encoding the shorter protein isoform 2 (translation start in exon 2).
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.78622
ataattcgaataccagggcaggccgagccagccgtgcgcc c.-61
. . . . . . g.78682
gcgctccagggcccagggcgccgcacacgcacccacccacccacccagcctcgcagcgcc c.-1
. . . . . . g.78742
ATGGGCAAGAACAAGCAGCCACGCGGCCAGCAGAGGCAGGGGGGCCCGCCGGCCGCGGAC c.60
M G K N K Q P R G Q Q R Q G G P P A A D p.20
. . . . . . g.78802
GCCGCTGGGCCCGACGACATGGAGCCGAAGAAGGGCACGGGGGCCCCCAAGGAGTGCGGG c.120
A A G P D D M E P K K G T G A P K E C G p.40
. . . . . . g.78862
GAGGAGGAGCCCCGGACCTGCTGCGGCTGCCGGTTCCCGCTGCTGCTCGCCCTGCTGCAG c.180
E E E P R T C C G C R F P L L L A L L Q p.60
. . . . . . g.78922
CTGGCCCTGGGCATCGCCGTGACCGTGGTGGGCTTCCTCATGGCGAGCATCAGCTCCTCC c.240
L A L G I A V T V V G F L M A S I S S S p.80
. . . | 02 . . g.107323
CTGCTAGTCAGGGACACTCCATTTTGGGCTGGGATCATT | GTCTGCTTAGTGGCCTATCTT c.300
L L V R D T P F W A G I I | V C L V A Y L p.100
. . . . . . g.107383
GGCTTGTTTATGCTTTGTGTCTCATATCAGGTTGACGAACGGACATGTATTCAATTTTCT c.360
G L F M L C V S Y Q V D E R T C I Q F S p.120
| 03 . . . . . . g.113774
ATGAAA | CTGTTATACTTTCTGCTGAGTGCCCTGGGCCTGACGGTCTGTGTGCTGGCCGTG c.420
M K | L L Y F L L S A L G L T V C V L A V p.140
. . . . . . g.113834
GCCTTTGCCGCCCACCACTATTCGCAGCTCACACAGTTTACCTGTGAGACCACACTCGAC c.480
A F A A H H Y S Q L T Q F T C E T T L D p.160
. . . . . . g.113894
TCTTGCCAGTGCAAACTGCCCTCCTCGGAGCCGCTCAGCAGGACCTTTGTTTACCGGGAT c.540
S C Q C K L P S S E P L S R T F V Y R D p.180
. . . . . . g.113954
GTGACGGACTGTACCAGCGTCACTGGCACTTTCAAACTGTTCTTACTCATCCAGATGATT c.600
V T D C T S V T G T F K L F L L I Q M I p.200
. . . . . . g.114014
CTTAATTTGGTCTGCGGCCTTGTGTGCTTGTTGGCCTGCTTTGTGATGTGGAAACATAGG c.660
L N L V C G L V C L L A C F V M W K H R p.220
. . . . . . g.114074
TACCAGGTCTTCTATGTGGGTGTCAGGATATGCTCCCTCACGGCTTCCGAAGGCCCCCAG c.720
Y Q V F Y V G V R I C S L T A S E G P Q p.240
. g.114086
CAAAAGATCTAA c.732
Q K I X p.243
. . . . . . g.114146
cattcttgctcaaagttgcgagagaaagtagcacatggagtagctgaggttaaacaaaca c.*60
. . . . . . g.114206
aaaaaaaattttaaacaaagaaaggaaaaaaattgacaataaaagtcactcttctaattg c.*120
. . . . . . g.114266
aatatttttatatttttatgaaacaaaagagcatttcttcaggtttctattgtatttttt c.*180
. . . . . . g.114326
ttaacattcttgcagagaaagcaagatccaaattgattttgggatattaaaagttaacag c.*240
. . . . . . g.114386
aacactgaacaaggaaagaatggcatagatctatctttacagtctggagttaattcctgt c.*300
. . . . . . g.114446
taactcattttatccattccttacataatcttctttcctgttagtccagtttgatggtgt c.*360
. . . . . . g.114506
gaatggtgaatttcaggcccagttgctaaattttgtggcatcttcctctagtccttccca c.*420
. . . . . . g.114566
cctccagtcatcagccccactctgtcttggagacaggcaggaggtgggggaagagctgaa c.*480
. . . . . . g.114626
tctctttattttccctggtagagacatcttcaaggcatgaaatagcttaaagagcagagt c.*540
. . . . . . g.114686
agaaacggaagaggctttgcaaaaggctagataactaacaacacctgggttggggcggcg c.*600
. . . . . . g.114746
gcctcttctcttcagctcccttagcttggctccgtaagtggatcacttgccaaatgcttt c.*660
. . . . . . g.114806
agatgattgcctctcaataattgaaaggtggtggtagttgtattctaaatgatgtagaag c.*720
. . . . . . g.114866
gtttaaaaataattacattatgcttctattctatcatctaaaacaaatcattaaaactaa c.*780
. . . . . . g.114926
tttctagctaattgttaattataattatgctcagaagtctatttaatgagctctgactgt c.*840
. . . . . . g.114986
acttacgctgcactgtcggtgttaagagaaattactctcacaagagcagaggcctgaaga c.*900
. . . . . . g.115046
ttctttcttctgaaagccaagcaccacaaggaaaaaaaaaattattaatagctcaggtta c.*960
. . . . . . g.115106
aaaacacccatttaaacaaaaacaagagcatttgtaataggaagtgtttatacaaacagc c.*1020
. . . . . . g.115166
acatttgtgatatgttgaaaagcatctctcttggcaaccaatctatgtttgaggaagatt c.*1080
. . . . . . g.115226
gggtaatgctgatgtgttccattcatgaaactgtatttgatacataatcctattattaat c.*1140
. . . . . . g.115286
tcgtatgcttagtcaacctaggaaatcaaaataatgttttgaagttcttatttgagcaat c.*1200
. . . . . . g.115346
atggccttgacttggagggtagttttagttgttttgtttttaagtgactgtggtttaaag c.*1260
. . . . . . g.115406
cacaaatgccccaaggtggggagacttctctctgtgattattgttgctattaaattctga c.*1320
. . . . . . g.115466
actgtatccatattttaaggaaggagctaaaaatggaaattcatgaaacataaatggtat c.*1380
. . . . . . g.115526
caagaactttatcagtatgctttgttgaaagcagaaattaagataataattgagttcaat c.*1440
. . . . . . g.115586
tcgcctctccgcattgcctattgatacactttactaatcatgaaattctaacctaaaagg c.*1500
. . . . . . g.115646
aaaacattttcctgcttgtcttagaagaaagtggaataattccactgattgtgataatgg c.*1560
. . . . . . g.115706
tttcaatttctacacaatataaatatccagtataaaggaaagcgttaagtcggtaagcta c.*1620
. . . . . . g.115766
gaggattgtaaatatcttttatgtcctctagataaaacacccgattaacagatgttaaac c.*1680
. . . . . . g.115826
cttttaatgttttgatttgctttaaaaatggccttcctacacattagctccagctaaaaa c.*1740
. . . . . . g.115886
gacacattggagagcttagaggataagtctctggagcagaatttatcacacacaaaagtt c.*1800
. . . . . . g.115946
acaccaacagaataccaagcagaatgatgaggacctgtaaaataccttgtgccctattaa c.*1860
. . . . . . g.116006
aaaaaaaaaaaaaaaaaaagccagtaactgaatccattttgatttttggttgagtttcct c.*1920
. . . . . . g.116066
acacaaagaagaaaataactgagaatctggaatgttgtagtccatcctttaaagagtaag c.*1980
. . . . . . g.116126
aaagtagcagttaatgctagtaaccgtgaattaggcaccactgaaagcacatcccgaatt c.*2040
. . . . . . g.116186
tctttaacaacaacattttatagtgaacactacaagtttttatatttaaaaattaagact c.*2100
. . . . . . g.116246
ctgtatatccttaaggtgctctatgctttaccagtaattcacagggtatttcaaatggta c.*2160
. . . . . . g.116306
gaatcattttagcttctgtgcttcctttttctaaataatgcaacttgtaagagttgacat c.*2220
. . . . . . g.116366
tgtaataagctttataatagtataaccgtcaggagatatatatatatatatatacacata c.*2280
. . . . . . g.116426
cacacacacacacacatatatactatacatatataaaatggggatattactattgtatga c.*2340
. . . . . . g.116486
ttaaatcattcttaagtccccaaggaaaaaaaatcataaacaaatagaaagaactaaaca c.*2400
. . . . . . g.116546
gaaaagaaagaaagaaaagatccctttgctatgagctcgctgtatattgataagtgtaag c.*2460
. . . . . . g.116606
aattgtgttgcatgaataaccgctttgggctggatttgaagtattttgatgttgtgtttt c.*2520
. . . . . . g.116666
gcaaatattgaagttacaataatggcaacagaaaaggaacagatacacagctttacactt c.*2580
. . . . . . g.116726
agcagaatgttacatttaaaatctgacaaggcgccaagatggtgactgtctcctctaaac c.*2640
. . . . . . g.116786
cacgaaagagtaagatttgtgcaaccctcctcctcttccacctccttcaggagaattaaa c.*2700
. . . . . . g.116846
tgaatcaagactttggaaagacggggaagagccgggacttggcagtacttgaaacaggag c.*2760
. . . . . . g.116906
gaatacaccagcctaaatgtacagactttgtagccgagcccactcgatcggtctgtgcct c.*2820
. . . . . . g.116966
tcacgtgaccaccatctgtgcctccctcgctccatccaaatttgtgtaggctgctccttg c.*2880
. . . . . . g.117026
gagctatgcctaaaatatagctacaccagagccctggaaactgtagtcaagtaacaggcc c.*2940
. . . . . . g.117086
tcactgttttttttctttggattaaaagtgtatatctctctactgaggggtttccagctt c.*3000
. . . . . . g.117146
tacacttctataggttgttctgacagtgagaacacattatgtacatgttttctattcatg c.*3060
. . . . . . g.117206
tccagggcatgagaatcttaatattcttatacttccctttttgcatgcagtatgtctgga c.*3120
. . . . . . g.117266
atatgtttataaaattttagcaaggggtgagatcaagggacaaaggtagagtggttattt c.*3180
. . . . . . g.117326
aaagacaatcagaaatgaacttaaaagctgccctgcaaaaccaatcctttcctatcatga c.*3240
. . . . . . g.117386
agagtaccttcatattttctagagattgtctctgaaccgttgctacatagccataaattt c.*3300
. . . . . . g.117446
ctgtaaatcatgttggctatcagttcttgctattctcagagcactctatcatgtttttag c.*3360
. . . . . . g.117506
gtgtatattgtgtattcaggatagcattaaaaagaactgatggcaaatgtattgactcac c.*3420
. . . . . . g.117566
agtggaaacattcatttggatgaagaattagtggtttagcctttgaaatgaataccttga c.*3480
. . . . . . g.117626
atcatttcttctgattttctagtagtttattatctcaaatgattattatccccttcaaaa c.*3540
. . . . . . g.117686
atactggtctgtactttggtgttgtggtttcatttttctggcattgatcaaatagcaaat c.*3600
. . . . . . g.117746
acaaaataaagcatttctacatgtttgaggtggttgtttttaaaggggatatgtgtaatg c.*3660
. . . . g.117787
cagattttctttattaataaaattttcataatctctgaaaa c.*3701
(downstream sequence)
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