(used for mutation description)
(last modified January 2, 2011)
This file was created to facilitate the description of sequence variants 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.5277
ataattcgaataccagggcaggccgagccagccgtgcgcc c.-61
. . . . . . g.5337
gcgctccagggcccagggcgccgcacacgcacccacccacccacccagcctcgcagcgcc c.-1
. . . . . . g.5397
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.5457
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.5517
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.5577
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.33978
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.34038
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
^ translation start SSPN isoform 2
| 03 . . . . . . g.40429
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.40489
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.40549
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.40609
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.40669
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.40729
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.40741
CAAAAGATCTAA c.732
Q K I X p.243
. . . . . . g.40801
cattcttgctcaaagttgcgagagaaagtagcacatggagtagctgaggttaaacaaaca c.*60
. . . . . . g.40861
aaaaaaaattttaaacaaagaaaggaaaaaaattgacaataaaagtcactcttctaattg c.*120
. . . . . . g.40921
aatatttttatatttttatgaaacaaaagagcatttcttcaggtttctattgtatttttt c.*180
. . . . . . g.40981
ttaacattcttgcagagaaagcaagatccaaattgattttgggatattaaaagttaacag c.*240
. . . . . . g.41041
aacactgaacaaggaaagaatggcatagatctatctttacagtctggagttaattcctgt c.*300
. . . . . . g.41101
taactcattttatccattccttacataatcttctttcctgttagtccagtttgatggtgt c.*360
. . . . . . g.41161
gaatggtgaatttcaggcccagttgctaaattttgtggcatcttcctctagtccttccca c.*420
. . . . . . g.41221
cctccagtcatcagccccactctgtcttggagacaggcaggaggtgggggaagagctgaa c.*480
. . . . . . g.41281
tctctttattttccctggtagagacatcttcaaggcatgaaatagcttaaagagcagagt c.*540
. . . . . . g.41341
agaaacggaagaggctttgcaaaaggctagataactaacaacacctgggttggggcggcg c.*600
. . . . . . g.41401
gcctcttctcttcagctcccttagcttggctccgtaagtggatcacttgccaaatgcttt c.*660
. . . . . . g.41461
agatgattgcctctcaataattgaaaggtggtggtagttgtattctaaatgatgtagaag c.*720
. . . . . . g.41521
gtttaaaaataattacattatgcttctattctatcatctaaaacaaatcattaaaactaa c.*780
. . . . . . g.41581
tttctagctaattgttaattataattatgctcagaagtctatttaatgagctctgactgt c.*840
. . . . . . g.41641
acttacgctgcactgtcggtgttaagagaaattactctcacaagagcagaggcctgaaga c.*900
. . . . . . g.41701
ttctttcttctgaaagccaagcaccacaaggaaaaaaaaaattattaatagctcaggtta c.*960
. . . . . . g.41761
aaaacacccatttaaacaaaaacaagagcatttgtaataggaagtgtttatacaaacagc c.*1020
. . . . . . g.41821
acatttgtgatatgttgaaaagcatctctcttggcaaccaatctatgtttgaggaagatt c.*1080
. . . . . . g.41881
gggtaatgctgatgtgttccattcatgaaactgtatttgatacataatcctattattaat c.*1140
. . . . . . g.41941
tcgtatgcttagtcaacctaggaaatcaaaataatgttttgaagttcttatttgagcaat c.*1200
. . . . . . g.42001
atggccttgacttggagggtagttttagttgttttgtttttaagtgactgtggtttaaag c.*1260
. . . . . . g.42061
cacaaatgccccaaggtggggagacttctctctgtgattattgttgctattaaattctga c.*1320
. . . . . . g.42121
actgtatccatattttaaggaaggagctaaaaatggaaattcatgaaacataaatggtat c.*1380
. . . . . . g.42181
caagaactttatcagtatgctttgttgaaagcagaaattaagataataattgagttcaat c.*1440
. . . . . . g.42241
tcgcctctccgcattgcctattgatacactttactaatcatgaaattctaacctaaaagg c.*1500
. . . . . . g.42301
aaaacattttcctgcttgtcttagaagaaagtggaataattccactgattgtgataatgg c.*1560
. . . . . . g.42361
tttcaatttctacacaatataaatatccagtataaaggaaagcgttaagtcggtaagcta c.*1620
. . . . . . g.42421
gaggattgtaaatatcttttatgtcctctagataaaacacccgattaacagatgttaaac c.*1680
. . . . . . g.42481
cttttaatgttttgatttgctttaaaaatggccttcctacacattagctccagctaaaaa c.*1740
. . . . . . g.42541
gacacattggagagcttagaggataagtctctggagcagaatttatcacacacaaaagtt c.*1800
. . . . . . g.42601
acaccaacagaataccaagcagaatgatgaggacctgtaaaataccttgtgccctattaa c.*1860
. . . . . . g.42661
aaaaaaaaaaaaaaaaaaagccagtaactgaatccattttgatttttggttgagtttcct c.*1920
. . . . . . g.42721
acacaaagaagaaaataactgagaatctggaatgttgtagtccatcctttaaagagtaag c.*1980
. . . . . . g.42781
aaagtagcagttaatgctagtaaccgtgaattaggcaccactgaaagcacatcccgaatt c.*2040
. . . . . . g.42841
tctttaacaacaacattttatagtgaacactacaagtttttatatttaaaaattaagact c.*2100
. . . . . . g.42901
ctgtatatccttaaggtgctctatgctttaccagtaattcacagggtatttcaaatggta c.*2160
. . . . . . g.42961
gaatcattttagcttctgtgcttcctttttctaaataatgcaacttgtaagagttgacat c.*2220
. . . . . . g.43021
tgtaataagctttataatagtataaccgtcaggagatatatatatatatatatacacata c.*2280
. . . . . . g.43081
cacacacacacacacatatatactatacatatataaaatggggatattactattgtatga c.*2340
. . . . . . g.43141
ttaaatcattcttaagtccccaaggaaaaaaaatcataaacaaatagaaagaactaaaca c.*2400
. . . . . . g.43201
gaaaagaaagaaagaaaagatccctttgctatgagctcgctgtatattgataagtgtaag c.*2460
. . . . . . g.43261
aattgtgttgcatgaataaccgctttgggctggatttgaagtattttgatgttgtgtttt c.*2520
. . . . . . g.43321
gcaaatattgaagttacaataatggcaacagaaaaggaacagatacacagctttacactt c.*2580
. . . . . . g.43381
agcagaatgttacatttaaaatctgacaaggcgccaagatggtgactgtctcctctaaac c.*2640
. . . . . . g.43441
cacgaaagagtaagatttgtgcaaccctcctcctcttccacctccttcaggagaattaaa c.*2700
. . . . . . g.43501
tgaatcaagactttggaaagacggggaagagccgggacttggcagtacttgaaacaggag c.*2760
. . . . . . g.43561
gaatacaccagcctaaatgtacagactttgtagccgagcccactcgatcggtctgtgcct c.*2820
. . . . . . g.43621
tcacgtgaccaccatctgtgcctccctcgctccatccaaatttgtgtaggctgctccttg c.*2880
. . . . . . g.43681
gagctatgcctaaaatatagctacaccagagccctggaaactgtagtcaagtaacaggcc c.*2940
. . . . . . g.43741
tcactgttttttttctttggattaaaagtgtatatctctctactgaggggtttccagctt c.*3000
. . . . . . g.43801
tacacttctataggttgttctgacagtgagaacacattatgtacatgttttctattcatg c.*3060
. . . . . . g.43861
tccagggcatgagaatcttaatattcttatacttccctttttgcatgcagtatgtctgga c.*3120
. . . . . . g.43921
atatgtttataaaattttagcaaggggtgagatcaagggacaaaggtagagtggttattt c.*3180
. . . . . . g.43981
aaagacaatcagaaatgaacttaaaagctgccctgcaaaaccaatcctttcctatcatga c.*3240
. . . . . . g.44041
agagtaccttcatattttctagagattgtctctgaaccgttgctacatagccataaattt c.*3300
. . . . . . g.44101
ctgtaaatcatgttggctatcagttcttgctattctcagagcactctatcatgtttttag c.*3360
. . . . . . g.44161
gtgtatattgtgtattcaggatagcattaaaaagaactgatggcaaatgtattgactcac c.*3420
. . . . . . g.44221
agtggaaacattcatttggatgaagaattagtggtttagcctttgaaatgaataccttga c.*3480
. . . . . . g.44281
atcatttcttctgattttctagtagtttattatctcaaatgattattatccccttcaaaa c.*3540
. . . . . . g.44341
atactggtctgtactttggtgttgtggtttcatttttctggcattgatcaaatagcaaat c.*3600
. . . . . . g.44401
acaaaataaagcatttctacatgtttgaggtggttgtttttaaaggggatatgtgtaatg c.*3660
. . . . g.44442
cagattttctttattaataaaattttcataatctctgaaaa c.*3701
(downstream sequence)
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