(used for mutation description)
(last modified May 7, 2012)
This file was created to facilitate the description of sequence variants in the ISPD gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032690.1, covering ISPD transcript variant-1 (NM_001101426.3). Transcript variant-2 (NM_001101417.3) skips exon 3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . . g.60
ATGGAGGCCGGGCCGCCGGGCAGCGCCAGGCCGGCGGAGCCGGGTCCTTGCCTGAGTGGT c.60
M E A G P P G S A R P A E P G P C L S G p.20
. . . . . . g.120
CAGCGCGGCGCGGACCACACGGCTTCCGCCTCCCTGCAGAGCGTGGCCGGGACCGAGCCC c.120
Q R G A D H T A S A S L Q S V A G T E P p.40
. . . . . . g.180
GGGCGCCACCCGCAAGCCGTGGCAGCTGTGTTGCCTGCCGGGGGGTGCGGGGAGAGGATG c.180
G R H P Q A V A A V L P A G G C G E R M p.60
. . . . . . g.240
GGGGTCCCCACCCCGAAGCAATTCTGCCCCATCCTGGAGAGGCCGCTCATCAGCTACACC c.240
G V P T P K Q F C P I L E R P L I S Y T p.80
. | 02. . . . . g.15028
CTACAGGCCCTGGAGAG | AGTATGTTGGATAAAGGACATTGTTGTGGCAGTAACTGGAGAG c.300
L Q A L E R | V C W I K D I V V A V T G E p.100
. . . . . . g.15088
AACATGGAAGTAATGAAAAGTATTATTCAGAAGTATCAGCATAAACGCATCTCACTGGTC c.360
N M E V M K S I I Q K Y Q H K R I S L V p.120
. . . . . . g.15148
GAAGCTGGAGTGACCCGCCACAGGTCAATTTTCAATGGACTAAAAGCACTGGCAGAAGAT c.420
E A G V T R H R S I F N G L K A L A E D p.140
. . . . . . g.15208
CAGATCAACTCTAAACTCTCTAAGCCAGAAGTAGTGATTATCCATGATGCTGTGAGACCA c.480
Q I N S K L S K P E V V I I H D A V R P p.160
. . . . . | 03 . g.45087
TTTGTTGAGGAAGGTGTCCTTCTTAAAGTTGTCACAGCTGCTAAGGAACACGGG | GCAGCA c.540
F V E E G V L L K V V T A A K E H G | A A p.180
^ alternatively spliced exon,
missing in some transcripts
. . . . . . g.45147
GGAGCCATTCGACCTCTTGTATCTACTGTCGTCAGTCCATCTGCTGATGGTTGCTTAGAC c.600
G A I R P L V S T V V S P S A D G C L D p.200
. . . . . . g.45207
TACTCGCTAGAACGTGCCAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCTATTTGAT c.660
Y S L E R A R H R A S E M P Q A F L F D p.220
. . | 04 . . . . g.112731
GTGATTTATGAAGCATATCAGCAG | TGTAGTGACTATGACTTGGAATTTGGAACTGAGTGT c.720
V I Y E A Y Q Q | C S D Y D L E F G T E C p.240
. . . . . . g.112791
TTGCAATTGGCCCTAAAATACTGTTGCACTAAAGCCAAACTTGTAGAAGGATCACCTGAC c.780
L Q L A L K Y C C T K A K L V E G S P D p.260
| 05 . . . . | 06 . g.143101
CTCTGGAAG | GTGACCTACAAACGAGATCTCTATGCGGCTGAATCGATTATTAAGG | AGAGA c.840
L W K | V T Y K R D L Y A A E S I I K E | R p.280
. . . . . . g.143161
ATTTCCCAAGAGATTTGTGTAGTTATGGATACAGAAGAAGATAACAAACATGTAGGTCAT c.900
I S Q E I C V V M D T E E D N K H V G H p.300
. . . | 07 . . . g.162337
CTTCTTGAAGAAGTGCTGAAAAGTGAATTAAAT | CATGTAAAAGTCACATCTGAGGCTCTG c.960
L L E E V L K S E L N | H V K V T S E A L p.320
. . . . . . g.162397
GGTCATGCTGGCAGACATCTTCAGCAAATCATCTTAGATCAATGCTACAATTTTGTTTGT c.1020
G H A G R H L Q Q I I L D Q C Y N F V C p.340
| 08 . . . . . . g.162894
GTGAAT | GTTACAACCTCTGATTTTCAAGAAACCCAGAAGTTACTGAGCATGCTTGAAGAG c.1080
V N | V T T S D F Q E T Q K L L S M L E E p.360
. . . | 09 . . g.205146
AGTAGTCTTTGCATTTTATATCCTGTTGTTGTTGTTTCA | GTTCATTTTCTTGATTTTAAA c.1140
S S L C I L Y P V V V V S | V H F L D F K p.380
. . . . . . g.205206
TTAGTACCTCCCAGTCAGAAAATGGAAAACCTAATGCAGATTAGAGAATTTGCAAAGGAA c.1200
L V P P S Q K M E N L M Q I R E F A K E p.400
. . . . . | 10 . g.329532
GTAAAAGAAAGAAATATTTTGTTATATGGGCTTCTCATATCTTACCCACAG | GATGATCAG c.1260
V K E R N I L L Y G L L I S Y P Q | D D Q p.420
. . . . . . g.329592
AAGCTACAGGAGAGTTTAAGGCAAGGTGCTATCATTATTGCTTCATTAATCAAGGAAAGA c.1320
K L Q E S L R Q G A I I I A S L I K E R p.440
. . . g.329628
AATTCTGGACTCATTGGTCAGCTTCTGATAGCATGA c.1356
N S G L I G Q L L I A X p.451
. . . . . . g.329688
agaacacaaaaaattacctattttctaaaacatctatttgcgtatcttaattgtgctttg c.*60
. . . . . . g.329748
tgcccccgctgctgtgtgtggtagaatgtttcagttgtcttttatatcttctctataatt c.*120
. . . . . . g.329808
tgtaggatgtgatgcttagattataaagcagattaatgtttatatctgtgaaataaagaa c.*180
. . . . . . g.329868
tacttttgtgtatgacaaatattaattgcctgaaccagaaaaaaatagtagataagtgga c.*240
. . . . . . g.329928
aaataatagccttcaaatgaatctttccacagagacatgaacggtcaaatagaaataatg c.*300
. . . . . . g.329988
atggggtgagctattctttcaaggaatgagaatttagaaaacttcagttattatcctaac c.*360
. . . . . . g.330048
tgttaattaataatttacactattatgaagctaatggataaacttcagaattattctcac c.*420
. . . . . . g.330108
ttctataattgtcctgtcaccaggtgatattttgtctttttgtcttgtgttaaaaatgtc c.*480
. . . . . . g.330168
tacactttaataaaaaagggtgagtgggataccagggaacggaactgtttgtttctagca c.*540
. . . . . . g.330228
ttttccccatttgccacatattactcaagatccctaaaacagatgtcatttccttctttt c.*600
. . . . . . g.330288
ctgtttttaaattgtatgttatttttggtttatgaactataattatgacttacattattt c.*660
. . . . . . g.330348
taaagggtctctagtttttctgaatgaacttaaaagtgtctggaaagtttcgtaggtgat c.*720
. . . . . . g.330408
tctggtcaatccctggttagttatcttctataaggtagagaatctattgtacatcataga c.*780
. . . . . . g.330468
gttaaattagttatttcaattcagatactgctaccttttaaaatcaagttcttatttcca c.*840
. . . . . . g.330528
gttttcattggtatatacatctgaaatattaatattttcccttgcatgttataattatgg c.*900
. . . . . . g.330588
gtgtcctttaattcattagaggtgacttttaatctatacatacacttactctatttattt c.*960
. . . . . . g.330648
tattttttattgttttgaaatgcagtcgccctctgtcaggctggagtgcagtggcacaat c.*1020
. . . . . . g.330708
ctcagctgactgcaacctctgcctcctgggtttaagcaattatcctccctcagcctcccg c.*1080
. . . . . . g.330768
agtagctgggattacaggcacctgccaccacacctggctaattttttttttttttttttt c.*1140
. . . . . . g.330828
tttttgtatttttagtagagaagggttttcgccatgtaggccaggctggtcttgaactcc c.*1200
. . . . . . g.330888
tgacctcaagtgatctgcctgcctcggcctcccaaaatgctgggattataggtgtgagcc c.*1260
. . . . . . g.330948
accatacccagccaacatacatttattttattgaaacagattagggcttaggctgcacgt c.*1320
. . . . . . g.331008
ggaaactataaaagttgcatgaagtgttttcagttaaagatacactatacaatatctacc c.*1380
. . . . . . g.331068
ttgtggaatttttatttaacatgttgggtgattttccctctagtgttcaagtatatatat c.*1440
. . . . . . g.331128
agtaggagagtttatattttacattctcctaattgaaatgtgttatttgaatgtaggctt c.*1500
. . . . . . g.331188
gtatctaaattcctgggcctgccctttttctctctctaggaatattaagaaatttaaaat c.*1560
. . . . . . g.331248
ccattaatttaagtttttgaggatggaaataggtaagcaatgtgtggattgtggttagga c.*1620
. . . . . . g.331308
atgtctgtgcctttgttcagatgtcggctgtgtgtgtgacgaaaaccacagctgccaagt c.*1680
. . . . . . g.331368
ccccaacatgcacctgttgaagtcatcaggtgaaaatgtttaagactttgaaagtgctca c.*1740
. . . . . . g.331428
taaaggaagaaggggaaatgttatcaaggctttaaagagagggtaagtgccttgaagaag c.*1800
. . . . . . g.331488
aatgcagtaaactgggcatatttgtggcacagcaaaatcaccctgatcgctggagtgctg c.*1860
. . . . . . g.331548
gctgagttaacatagacttcagcttaaggaatcctacagcagacaagaatttatctcaga c.*1920
. . . . . . g.331608
gtacttactatgacattaccctaggcaactggtaacatttagtataatttagttaataaa c.*1980
. . . . . . g.331668
atattaagttgtgcctggaaaaaatagcatttggtccttcatagcaggcaaagcaattca c.*2040
. . . . . . g.331728
cagcattgggaaaaaaaaatacatacatacatatacatgtatgtatacccatatatatgt c.*2100
. . . . . . g.331788
atatacatgcatgtatacccatatatatgtatatacttacatgtatatacatatatatgt c.*2160
. . . . . . g.331848
atgtacgtacatatatacccatatctatgtatgtacgtacatatatacccgtatatatgt c.*2220
. . . . . . g.331908
acgtacatatatacacatatatgtatgcacgtacatatatacacatatatgtatgtacgt c.*2280
. . . . . . g.331968
acatatatacacattatgtacatacatatatacgtatatatgtacatgcatgtatgtatg c.*2340
. . . . . . g.332028
tatatacgtacgcatacacacatatatttatatacgtacgcatacacacatatatgtata c.*2400
. . . . . . g.332088
tacgtacgcatacacacatatatgtatatacgtacgcatacacacatatatgtatatacg c.*2460
. . . . . . g.332148
tacgcatacacacatatatgtatatacgtacgtatatacacacatatatgtatatacgta c.*2520
. . . . . . g.332208
cgtatatatgtatttttatgttttatgtatatgtattttatatgtatatatatctgcaca c.*2580
. . . . . . g.332268
tccttcactattttcatgaggaaattggagctcagggatcttagttaccttgccaaaatc c.*2640
. . . . . . g.332328
atgtgactgaatagtaacaaaagtttgggcttaaaataaggaagactgataataagtgtt c.*2700
. . . . . . g.332388
aagcttatattcctgtctaacaatgacccctggcaaagacatctgatatataagccacgt c.*2760
. . . . . . g.332448
ctgatatataagacgtgatatataagccagaggcactgaatgaacattggcgaaatggac c.*2820
. . . . . . g.332508
aagaagggtgggacacttatgtccagggactaggtgaaagtcctggagcttttggctttc c.*2880
. . . . . . g.332568
cagccaccttcccagcataaagaaattgtagctaaagttaagggaatgaatagaagtatt c.*2940
. . . . . . g.332628
ggccaaaagagaaattattttgttgtttaagagatctggccgggcgcgatggctcacgcc c.*3000
. . . . . . g.332688
tgaaatcccagcactttgggaggccgaggcaggcagattacgaggtcaggagatccagac c.*3060
. . . . . . g.332748
catcctggctaatgcggtgaaaccccgtctctagtaaaaatacaaaaaaaatagccaggc c.*3120
. . . . . . g.332808
atcgtggcgggcgcctgtagtcccagctactcaggaggcttaggcaggagaatggcgtca c.*3180
. . . . . . g.332868
acctgggaggcggagcttgcagtgagccgacatagcgccactgcactccagcctgggcaa c.*3240
. . . . . . g.332928
cagagcaagactccgtctcaaaaaaaaaaaaaaaaaaaaaaagagagatccagaggtaac c.*3300
. . . . . . g.332988
tttacagttacattttcatcactgcttctgtaaatttactttagtaaaagctgtctattc c.*3360
. . . . . . g.333048
tcactttattttccaaaatctcttaaaaaataatagtgattatgcttcaaggtttctgaa c.*3420
. . . . . . g.333108
aatgcttccacttgtgggaaattttgttgcaaaatggttttctttctaaacttacgctag c.*3480
. . . . . . g.333168
ttagttaaatgcaaattaaagttagtcgtcttaggagttcatcatagcgtgagtaatggt c.*3540
. . . . . . g.333228
ttgattaatgacattttggtagaggtcctattttttttcataaaagtgctcaatttgaga c.*3600
. . . . . . g.333288
tgacttgttgcaagtatactcatttacaggtaagagtcagctccctatattctctcagag c.*3660
. . . . . . g.333348
tcattgttatggttattattgtaagtattttacattaatttaacagaaattttttcttcc c.*3720
. . . . . . g.333408
ctaacttataactcaactttatgtaaatacagtgatcatcttataaaaatcaaattacag c.*3780
. . . . . . g.333468
aatgtcttaaaatctgtaaatttgactttgttttaatgttgaaactacaaattcacagag c.*3840
. . . . . . g.333528
gcataaatctaacatcttaattaaaatgtcaaccatatgcaagaagaaagatagaagtta c.*3900
. . . . . . g.333588
tttagaaagtttaatttgaaaacagaataatgaagcattttaattgatataggatttgtt c.*3960
. . . . . . g.333648
agtatggcttaaaatcagtggactagaagtagctgtgtaggtggtggttggcattatagt c.*4020
. . . . . . g.333708
tgcatttatatatgttcttattaatttcagtttcaaaattgtaagaagcatatgcatatt c.*4080
. . . . . . g.333768
tttaaggtgacattgaaaagtactataaagattctaaatatgttgtttttacaaaacaaa c.*4140
. . g.333796
atgtaaataaattattgatttaaaatct c.*4168
(downstream sequence)
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