(used for variant description)
(last modified June 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_014946.3 in the SPAST gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008730.1, covering SPAST transcript NM_014946.3.
(upstream sequence)
. . . . g.5041
ggcccgagccaccgactgcaggaggagaaggggttgtgctc c.-181
. . . . . . g.5101
ctggccgaggaaggagaaaggggcggggccggcgggcagcgtgcggcagtgcggagctcc c.-121
. . . . . . g.5161
tgagaccggcgggcacacgggggtctgtggcccccgccgtagcagtggctgccgccgtcg c.-61
. . . . . . g.5221
cttggttcccgtcggtctgcgggaggcgggttatggcggcggcggcagtgagagctgtga c.-1
. . . . . . g.5281
ATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCGCCAGCAACCCGGTG c.60
M N S P G G R G K K K G S G G A S N P V p.20
. . . . . . g.5341
CCTCCCAGGCCTCCGCCCCCTTGCCTGGCCCCCGCCCCTCCCGCCGCCGGGCCGGCCCCT c.120
P P R P P P P C L A P A P P A A G P A P p.40
. . . . . . g.5401
CCGCCCGAGTCGCCGCATAAGCGGAACCTGTACTATTTCTCCTACCCGCTGTTTGTAGGC c.180
P P E S P H K R N L Y Y F S Y P L F V G p.60
. . . . . . g.5461
TTCGCGCTGCTGCGTTTGGTCGCCTTCCACCTGGGGCTCCTCTTCGTGTGGCTCTGCCAG c.240
F A L L R L V A F H L G L L F V W L C Q p.80
. . . . . . g.5521
CGCTTCTCCCGCGCCCTCATGGCAGCCAAGAGGAGCTCCGGGGCCGCGCCAGCACCTGCC c.300
R F S R A L M A A K R S S G A A P A P A p.100
. . . . . . g.5581
TCGGCCTCGGCCCCGGCGCCGGTGCCGGGCGGCGAGGCCGAGCGCGTCCGAGTCTTCCAC c.360
S A S A P A P V P G G E A E R V R V F H p.120
. . . . . | 02 . g.28886
AAACAGGCCTTCGAGTACATCTCCATTGCCCTGCGCATCGATGAGGATGAGAAAG | CAGGA c.420
K Q A F E Y I S I A L R I D E D E K A | G p.140
. . . . . . g.28946
CAGAAGGAGCAAGCTGTGGAATGGTATAAGAAAGGTATTGAAGAACTGGAAAAAGGAATA c.480
Q K E Q A V E W Y K K G I E E L E K G I p.160
. . | 03 . . . . g.30949
GCTGTTATAGTTACAGGACAAG | GTGAACAGTGTGAAAGAGCTAGACGCCTTCAAGCTAAA c.540
A V I V T G Q G | E Q C E R A R R L Q A K p.180
. . . . | 04 . . g.40199
ATGATGACTAATTTGGTTATGGCCAAGGACCGCTTACAACTTCTAG | AGAAGATGCAACCA c.600
M M T N L V M A K D R L Q L L E | K M Q P p.200
. . . . . . g.40259
GTTTTGCCATTTTCCAAGTCACAAACGGACGTCTATAATGACAGTACTAACTTGGCATGC c.660
V L P F S K S Q T D V Y N D S T N L A C p.220
. . | 05 . . . . g.56065
CGCAATGGACATCTCCAGTCAG | AAAGTGGAGCTGTTCCAAAAAGAAAAGACCCCTTAACA c.720
R N G H L Q S E | S G A V P K R K D P L T p.240
. . . . . . g.56125
CACACTAGTAATTCACTGCCTCGTTCAAAAACAGTTATGAAAACTGGATCTGCAGGCCTT c.780
H T S N S L P R S K T V M K T G S A G L p.260
. . . . . . g.56185
TCAGGCCACCATAGAGCACCTAGTTACAGTGGTTTATCCATGGTTTCTGGAGTGAAACAG c.840
S G H H R A P S Y S G L S M V S G V K Q p.280
. . . | 06 . . . g.57121
GGATCTGGTCCTGCTCCTACCACTCATAAG | GGTACTCCGAAAACAAATAGGACAAATAAA c.900
G S G P A P T T H K | G T P K T N R T N K p.300
. . . . . . g.57181
CCTTCTACCCCTACAACTGCTACTCGTAAGAAAAAAGACTTGAAGAATTTTAGGAATGTG c.960
P S T P T T A T R K K K D L K N F R N V p.320
. . . . | 07 . . g.57524
GACAGCAACCTTGCTAACCTTATAATGAATGAAATTGTGGACAA | TGGAACAGCTGTTAAA c.1020
D S N L A N L I M N E I V D N | G T A V K p.340
. . . . . . g.57584
TTTGATGATATAGCTGGTCAAGACTTGGCAAAACAAGCATTGCAAGAAATTGTTATTCTT c.1080
F D D I A G Q D L A K Q A L Q E I V I L p.360
. | 08 . . . . g.68379
CCTTCTCTGAGGCCTGAG | TTGTTCACAGGGCTTAGAGCTCCTGCCAGAGGGCTGTTACTC c.1140
P S L R P E | L F T G L R A P A R G L L L p.380
. . . | 09 . . . g.69824
TTTGGTCCACCTGGGAATGGGAAGACAATGCTG | GCTAAAGCAGTAGCTGCAGAATCGAAT c.1200
F G P P G N G K T M L | A K A V A A E S N p.400
. . . . | 10 . . g.77967
GCAACCTTCTTTAATATAAGTGCTGCAAGTTTAACTTCAAAATAC | GTGGGAGAAGGAGAG c.1260
A T F F N I S A A S L T S K Y | V G E G E p.420
. . . . . . g.78027
AAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATA c.1320
K L V R A L F A V A R E L Q P S I I F I p.440
| 11 . . . . . . g.78325
G | ATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGC c.1380
D | E V D S L L C E R R E G E H D A S R R p.460
. . . | 12 . . . g.78525
CTAAAAACTGAATTTCTAATAGAATTTGATGGT | GTACAGTCTGCTGGAGATGACAGAGTA c.1440
L K T E F L I E F D G | V Q S A G D D R V p.480
. . . . . | 13 . g.83300
CTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAG | GCGTTTC c.1500
L V M G A T N R P Q E L D E A V L R | R F p.500
. . . | 14 . . . g.84749
ATCAAACGGGTATATGTGTCTTTACCAAATGAGGAG | ACAAGACTACTTTTGCTTAAAAAT c.1560
I K R V Y V S L P N E E | T R L L L L K N p.520
. . . . . | 15 . g.86330
CTGTTATGTAAACAAGGAAGTCCATTGACCCAAAAAGAACTAGCACAACTTGCTAG | AATG c.1620
L L C K Q G S P L T Q K E L A Q L A R | M p.540
. . . . . . g.86390
ACTGATGGATACTCAGGAAGTGACCTAACAGCTTTGGCAAAAGATGCAGCACTGGGTCCT c.1680
T D G Y S G S D L T A L A K D A A L G P p.560
| 16. . . . | 17 . g.95775
ATCCGAG | AACTAAAACCAGAACAGGTGAAGAATATGTCTGCCAGTGAG | ATGAGAAATATT c.1740
I R E | L K P E Q V K N M S A S E | M R N I p.580
. . . . . . g.95835
CGATTATCTGACTTCACTGAATCCTTGAAAAAAATAAAACGCAGCGTCAGCCCTCAAACT c.1800
R L S D F T E S L K K I K R S V S P Q T p.600
. . . . . g.95886
TTAGAAGCGTACATACGTTGGAACAAGGACTTTGGAGATACCACTGTTTAA c.1851
L E A Y I R W N K D F G D T T V X p.616
. . . . . . g.95946
ggaaatacctttgtaaacctgcagaacattttacttaaaagaggaaacacaagatcttca c.*60
. . . . . . g.96006
atgaacgtcatcggctacagaaacagcctaagtttacaggactttttagagtcttacata c.*120
. . . . . . g.96066
tttgtgcaccaaacttgaagatgaaccagaaaacagacttaaacaaaatatacaatgcaa c.*180
. . . . . . g.96126
atgtaattttttgttgtttaaggccttgccttgatggtcacagttatcccaatggacact c.*240
. . . . . . g.96186
aagttagagcacaacaaaacctgattctggtcttctttaccaatataatcataatgtaaa c.*300
. . . . . . g.96246
taataatttgtatattgtgttgcagatgaaagtattccaggaacagtgaatggtagaaga c.*360
. . . . . . g.96306
cacaagaacatttgtttgtttgtcttctgatgttttttcttaaaatagtaatttctccta c.*420
. . . . . . g.96366
cttttcttttctactgttgtcttaactacaggtgattggaatgccaaacactcttaagtt c.*480
. . . . . . g.96426
tattttcttttttcgttttataaattcagtgtgccaaatgaaacttttttcctaagtaac c.*540
. . . . . . g.96486
tgtaataggaaaaagtttattttgagagtttcttcttcataaatctacagacattaaaca c.*600
. . . . . . g.96546
attgttgtgttctttttaccttttatttttctattaccttgctaccaaacagtttagata c.*660
. . . . . . g.96606
gcaatataatagcaaaaaagcaaatatggtaaaatagagaaggtttgaaggtttgagtta c.*720
. . . . . . g.96666
ctctgtcatataacatgtagatcagtcttcatgtgacctgcagtatttttttttctaatg c.*780
. . . . . . g.96726
tatttgtcagaaatctgttgtagactgttaacttcttcctgatggaatttattttctgca c.*840
. . . . . . g.96786
agaattattctgatatttaagagagccaattttaactgctgtgaaaatgtttccagtgca c.*900
. . . . . . g.96846
agagaagggaaatactaggaactaagacatttctaatttattgcttattactttcttaat c.*960
. . . . . . g.96906
tttacaggataattataagcaagtggaactaccatcttttattcttaataattattaatc c.*1020
. . . . . . g.96966
ccttcaatgaaactttaaaaaaactgaatttttatacatggcatacatttttctagttcc c.*1080
. . . . . . g.97026
ttctgcttgctttattaactcaaaagttctagttctagtctgttgatctgccttttgttc c.*1140
. . . . . . g.97086
tcccaaaatgtacagtaattccatttgtttgtataaatatgcctggattttcattataaa c.*1200
. . . . . . g.97146
aatgtcattgtagggagtagagactcatatcatggccttttaaatattgtaataaaggca c.*1260
. . . . . . g.97206
aatagatatttgcccttagtttactggttaaaagtttgtttacagaacttttctctggtg c.*1320
. . . . . . g.97266
cttaaatgatgctatgtaaaatgtcatgagtggaaagaatatttgtagtagtaacaagaa c.*1380
. . . . . . g.97326
tttttcatttaggaaagatttcttaggttttgaaagaatacattaaaataaaaaacttgc c.*1440
. . . . . . g.97386
ccctactaggtaagaactttataatgaagacatacattcttcttaattttactcttgctc c.*1500
. . . . . . g.97446
ttgttaaagatttgtttgaatatagaagatgcatgatttctgggtttttttttttttttg c.*1560
. . . . . . g.97506
agacagagtttcgctcttgttgcccaggctggagtgcaatggcgcaatctcgactcacca c.*1620
. . . . . . g.97566
caacctccgcctcccaggttcaagcaattctcctgcctcagcctcccgagtagctgggat c.*1680
. . . . . . g.97626
tacaggcatgcgccactaccccagctaattttgtatttttagtagagatggggtttctcc c.*1740
. . . . . . g.97686
atgttggtcaggctggtcttgaactcctgacctcaggtgatccgcctgcctcggcctccc c.*1800
. . . . . . g.97746
aaagtgctgggattacaggcataagccactgcgcccagccagaagatgcatgatttctta c.*1860
. . . . . . g.97806
ggatcatatgctgtttgtagccataaggtaaatcatgtctcttccaatcatgactttgga c.*1920
. . . . . . g.97866
actccctgaataataaaaatgagagttgagataaataggggaaaaaaaatttttttcaag c.*1980
. . . . . . g.97926
ccagagctatgcatatgttaggtgatgggtagtatccctttaaggtctcaaacattacaa c.*2040
. . . . . . g.97986
catcaattatgaaatactgataacgaaaggtagtaatgaaatatatatgatgaaaagaat c.*2100
. . . . . . g.98046
tgagaagttctaaattaagacatttcagttaagctcataaaatttcattgttttcattta c.*2160
. . . . . . g.98106
aaagattaacgttattgatacttggataactggctaatcatattaaaggactatgtggtt c.*2220
. . . . . . g.98166
ccagctcaacttttaatatattgtctcctttaaaactatcatggttataattctattggg c.*2280
. . . . . . g.98226
aaagacttttagataacaaagatttcaaatgttaaaagagataaaagtcaggttaatact c.*2340
. . . . . . g.98286
atcttaaacactgagtcagaaaatcattactgtatagaagttgctttcctgatcaagtct c.*2400
. . . . . . g.98346
gaacttcagctagtgctagagaactattttctatgacttaactctaaccaagttttattt c.*2460
. . . . . . g.98406
taagctgtttctttgatagaagggccatgaaaatagagtaatgatatagtaggagataag c.*2520
. . . . . . g.98466
ggattggtttggtctttttcaataaagatagaagttgctgaagttttctgaattaataat c.*2580
. . . . . . g.98526
gacttagattgtgaccttttagattcggtgttgagctctgtgttgtattacttcctaaaa c.*2640
. . . . . . g.98586
gataatgcttaaacattaagcattagtgtgctcttcatgttaatatggcagagttttgta c.*2700
. . . . . . g.98646
aactaaattaaaacttactgatatattggactttgagccaagggaaagaatgagtactat c.*2760
. . . . . . g.98706
ctttccagatatcttaagggtaaaagcttattctaagacagtctgtccattgagaatatt c.*2820
. . . . . . g.98766
agatttctgacttgcaaatatgtttgtactccagaagaattagaggaaaagcagatacta c.*2880
. . . . . . g.98826
gaattctaatttaattacatatacagccgtctttgtttatagtgtagaattctttatatt c.*2940
. . . . . . g.98886
ttgtacaaaaactaattcttttggtaaaatgaaccatttacagttcggttttggactctg c.*3000
. . . . . . g.98946
agtcaaaggattttcctttaaatgcttgtctcaattttagtctggtcttttgtacttttc c.*3060
. . . . . . g.99006
ttcagaagaaatgaattaaagggtacagttgcataaagtgggtttttatcctaatgtatt c.*3120
. . g.99027
ggaaataaatgataaacttta c.*3141
(downstream sequence)
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