(used for mutation description)
(last modified July 13, 2012)
This file was created to facilitate the description of sequence variants in the SPTLC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028282.1, covering SPTLC2 transcript NM_004863.3.
(upstream sequence)
g.5008
ccttggcc c.-181
. . . . . . g.5068
gagaccggtcctctgcggagagggccccgccctctgtgaaggcccgcccgggaattggcg c.-121
. . . . . . g.5128
gcggcgctgcagccatttccggtttcggggaggtgggtggggtgcggagcgggacttgga c.-61
. . . . . . g.5188
gcagccgccgccgctgccaccgcctacagagcctgccttgcgcctggtgctgccaggaag c.-1
. . . . . . g.5248
ATGCGGCCGGAGCCCGGAGGCTGCTGCTGCCGCCGCACGGTGCGGGCGAATGGCTGCGTG c.60
M R P E P G G C C C R R T V R A N G C V p.20
. . . . . . g.5308
GCGAACGGGGAAGTACGGAACGGGTACGTGAGGAGCAGCGCTGCAGCCGCAGCCGCAGCC c.120
A N G E V R N G Y V R S S A A A A A A A p.40
. | 02 . . . . . g.24435
GCCGCCGGCCAG | ATCCATCATGTTACACAAAATGGAGGACTATATAAAAGACCGTTTAAT c.180
A A G Q | I H H V T Q N G G L Y K R P F N p.60
. . . . . . g.24495
GAAGCTTTTGAAGAAACACCAATGCTGGTTGCTGTGCTCACGTATGTGGGGTATGGCGTA c.240
E A F E E T P M L V A V L T Y V G Y G V p.80
. . . . . . g.24555
CTCACCCTCTTTGGATATCTTCGAGATTTCTTGAGGTATTGGAGAATTGAAAAGTGTCAC c.300
L T L F G Y L R D F L R Y W R I E K C H p.100
. . | 03. . . . g.42691
CATGCAACAGAAAGAGAAGAACAAAAG | GACTTTGTGTCATTGTATCAAGATTTTGAAAAC c.360
H A T E R E E Q K | D F V S L Y Q D F E N p.120
. . . . . . g.42751
TTTTATACAAGGAATCTGTACATGAGGATAAGAGACAACTGGAATCGGCCAATCTGTAGT c.420
F Y T R N L Y M R I R D N W N R P I C S p.140
. . . . . . g.42811
GTGCCTGGAGCCAGGGTGGACATCATGGAGAGACAGTCTCATGATTATAACTGGTCCTTC c.480
V P G A R V D I M E R Q S H D Y N W S F p.160
| 04 . . . . . . g.44910
AA | GTATACAGGGAATATAATAAAGGGTGTTATAAACATGGGTTCCTACAACTATCTTGGA c.540
K | Y T G N I I K G V I N M G S Y N Y L G p.180
. . . . . . g.44970
TTTGCACGGAATACTGGATCATGTCAAGAAGCAGCCGCCAAAGTCCTTGAGGAGTATGGA c.600
F A R N T G S C Q E A A A K V L E E Y G p.200
. . . | 05 . . . g.51288
GCTGGAGTGTGCAGTACTCGGCAGGAAATTG | GAAACCTGGACAAGCATGAAGAACTAGAG c.660
A G V C S T R Q E I G | N L D K H E E L E p.220
. . . . . . g.51348
GAGCTTGTAGCAAGGTTCTTAGGAGTAGAAGCTGCTATGGCGTATGGCATGGGATTTGCA c.720
E L V A R F L G V E A A M A Y G M G F A p.240
. . . | 06 . . . g.59302
ACGAATTCAATGAACATTCCTGCTCTTGTTGGCAAA | GGTTGCCTGATTCTGAGTGATGAA c.780
T N S M N I P A L V G K | G C L I L S D E p.260
. . . . . . g.59362
CTGAATCATGCATCACTGGTTCTGGGAGCCAGACTGTCAGGAGCAACCATTAGAATCTTC c.840
L N H A S L V L G A R L S G A T I R I F p.280
. | 07 . . . . . g.64671
AAACACAACA | ATATGCAAAGCCTAGAGAAGCTATTGAAAGATGCCATTGTTTATGGTCAG c.900
K H N N | M Q S L E K L L K D A I V Y G Q p.300
. . . . . | 08 . g.66252
CCTCGGACACGAAGGCCCTGGAAGAAAATTCTCATCCTTGTGGAAGGAATATATAG | CATG c.960
P R T R R P W K K I L I L V E G I Y S | M p.320
. . . . . . g.66312
GAGGGATCTATTGTTCGTCTTCCTGAAGTGATTGCCCTCAAGAAGAAATACAAGGCATAC c.1020
E G S I V R L P E V I A L K K K Y K A Y p.340
. . . . . . g.66372
TTGTATCTGGATGAGGCTCACAGCATTGGCGCCCTGGGCCCCACAGGCCGGGGTGTGGTG c.1080
L Y L D E A H S I G A L G P T G R G V V p.360
. . . . . . g.66432
GAGTACTTTGGCCTGGATCCCGAGGATGTGGATGTTATGATGGGAACGTTCACAAAGAGT c.1140
E Y F G L D P E D V D V M M G T F T K S p.380
. . . | 09 . . . g.69569
TTTGGTGCTTCTGGAGGATATATTGGAGGCAAGAAG | GAGCTGATAGACTACCTGCGAACA c.1200
F G A S G G Y I G G K K | E L I D Y L R T p.400
. . . . . . g.69629
CATTCTCATAGTGCAGTGTATGCCACGTCATTGTCACCTCCTGTAGTGGAGCAGATCATC c.1260
H S H S A V Y A T S L S P P V V E Q I I p.420
. . . . | 10 . . g.100203
ACCTCCATGAAGTGCATCATGGGGCAGGATGGCACCAGCCTTG | GTAAAGAGTGTGTACAA c.1320
T S M K C I M G Q D G T S L G | K E C V Q p.440
. . . . . . g.100263
CAGTTAGCTGAAAACACCAGGTATTTCAGGAGACGCCTGAAAGAGATGGGCTTCATCATC c.1380
Q L A E N T R Y F R R R L K E M G F I I p.460
. . . . . | 11 g.103601
TATGGAAATGAAGACTCTCCAGTAGTGCCTTTGATGCTCTACATGCCTGCCAAAATTGG | C c.1440
Y G N E D S P V V P L M L Y M P A K I G | p.480
. . . . . . g.103661
GCCTTTGGACGGGAGATGCTGAAGCGGAACATCGGTGTCGTTGTGGTTGGATTTCCTGCC c.1500
A F G R E M L K R N I G V V V V G F P A p.500
. . . . . . g.103721
ACCCCAATTATTGAGTCCAGAGCCAGGTTTTGCCTGTCAGCAGCTCATACCAAAGAAATA c.1560
T P I I E S R A R F C L S A A H T K E I p.520
| 12 . . . . . g.109415
CTTGATACT | GCTTTAAAGGAGATAGATGAAGTTGGGGACCTATTGCAGCTGAAGTATTCC c.1620
L D T | A L K E I D E V G D L L Q L K Y S p.540
. . . . . . g.109475
CGTCATCGGTTGGTACCTCTACTGGACAGGCCCTTTGACGAGACGACGTATGAAGAAACA c.1680
R H R L V P L L D R P F D E T T Y E E T p.560
g.109484
GAAGACTGA c.1689
E D X p.562
. . . . . . g.109544
gcctttttggtgctccctcagaggaactctccctcacccaggacagcctgtggcctttgt c.*60
. . . . . . g.109604
gagccagttccaggaaccacacttctgtggccatctcacgtgaaagacattgcctcagct c.*120
. . . . . . g.109664
actgaaggtggccacctccactctaaatgacattttgtaaatagtaaaaaactgcttcta c.*180
. . . . . . g.109724
atccttcctttgctaaatctcacctttaaaaacgaaggtgactcactttgctttttcagt c.*240
. . . . . . g.109784
ccattaaaaaaacattttattttgcaaccattctacttgtgaaatcacgctgaccctagc c.*300
. . . . . . g.109844
ctgtctctggctaaccacacaggccattcccctctcccagcaccttgcagacttgggccc c.*360
. . . . . . g.109904
atcaagagctactgctggccctggctccgcagcctggatacttacctggccctcctccct c.*420
. . . . . . g.109964
agggagcaagtgccttccacttacttcccatccaggtctcagaggtctcaaggccaacct c.*480
. . . . . . g.110024
tggaatccttatttaaccattcaagtaatcaacggaagttttcaccctttaatcttaagt c.*540
. . . . . . g.110084
ttagccttttaagaaaaacagtaagcgatgactgctgaaaggctcattgtgtaatctccc c.*600
. . . . . . g.110144
aagggtttggtcttattccattttcttctggtcaccagatgatttcttcctttaccatca c.*660
. . . . . . g.110204
aatacttcttcataatggtcacagtctgaggatgtgcgcaaattctggttcttcccaagc c.*720
. . . . . . g.110264
tctaaccgtaacacgtcccaccccctttttaaagcacttactgttttcagagcacccata c.*780
. . . . . . g.110324
tcccaccctggtgagaaggccactctcacatctgagtgttgggtacaaagctgctccgta c.*840
. . . . . . g.110384
gagtgatgtgcactcctggtgggtgaggggcaggggcagtggcagtgtgcaaagaattga c.*900
. . . . . . g.110444
ttactccttgcagagcctgtggcttgcatttcctactgctttctacgtttgaaaattatg c.*960
. . . . . . g.110504
acagtctctggctaggtctgggtccagattaggatttaaactgataaaggaaactgttgg c.*1020
. . . . . . g.110564
taaatcctctgctcagaaagcatttatcatgttcctatttaaggattaggtttattaatt c.*1080
. . . . . . g.110624
taggcctcttagaagctaacccacttaaatattactcttctgaatgctagttctctttta c.*1140
. . . . . . g.110684
ttcttgatgtcctaagtcaattgaatctggcatctggggctagggtctgcctgtctacat c.*1200
. . . . . . g.110744
attttttatttttttctgagaaattctgaacacatagatctctttcctaaactgacattt c.*1260
. . . . . . g.110804
tctattttgactgttttcatactataaccaggtaaagggacttctttcagagagctttat c.*1320
. . . . . . g.110864
actgcctgaccaaagaacaaatctgaaaatcaccattttaaagttattttttcagttgaa c.*1380
. . . . . . g.110924
ccaaagtttaagtgaagaggacttttggcatattatacccaggatcagtttgtctttttg c.*1440
. . . . . . g.110984
tatccatcaagtattacaggagaaggattgggaacagaatggaaaaacagtgtatgaaag c.*1500
. . . . . . g.111044
tcatgttacaggccgagtgcggtggctcacacctgtaatcctagcactttgggaggctga c.*1560
. . . . . . g.111104
ggcaggtggctcacttgaggtcaggaattcaagaccagcctggccaacatggtgaaaccc c.*1620
. . . . . . g.111164
cgtctctactaaaaagacaaaaaattagctgggcgtggtggcgggcacctataatcccac c.*1680
. . . . . . g.111224
ctacttggtaggctgaggcaggagaatcgcttgaacccaggaggcggaggttgcagtgag c.*1740
. . . . . . g.111284
acgagattgtgccactgcactctagcctgggtgacagagcaaaactgtgtctcaaaaaaa c.*1800
. . . . . . g.111344
aaagtcatgttacacatttaagtttttgaaattgctccttttatcggtaaagattctcaa c.*1860
. . . . . . g.111404
tccaaattctcctgggtgtgttgtcatcagctgtgatatgtttgtgcacattacgtatag c.*1920
. . . . . . g.111464
cagaggatgtaagcaatattattgtttgtgaagttttgtttttaatgtcttgagtatgag c.*1980
. . . . . . g.111524
ttatgtttagtcactgtcagcatctgagaactttaataagcccttgagatattccaaagt c.*2040
. . . . . . g.111584
tttattttacttttttaaagaacagaaaaagatgaatgaaagaaccaaggagagatgcag c.*2100
. . . . . . g.111644
agactatatttagcatgtataggttaaagtaagaaggaggttgtggtaactaaataggag c.*2160
. . . . . . g.111704
tcctataaaatcaaatacattgtcaaccttttctgcacatctagtttcctaccatagaat c.*2220
. . . . . . g.111764
cccactggaataccacatagcttttgcactgcagttactatttactaatgtaaacgtagg c.*2280
. . . . . . g.111824
gtttgtaaaagtcacaaacttataagcaatgaacttacctgctagtctttttattttggc c.*2340
. . . . . . g.111884
ttgcatgaagtcactgcaaattcaaatgtcagtaccggcatttaaaatatatctatatca c.*2400
. . . . . . g.111944
ctttgttggtacaaagttatttcaagataagtgtaattttgttacaagtttattttgaag c.*2460
. . . . . . g.112004
agacaaatctcctgtgatctatgcaggacctctgtactttctaaagaacaaaatgttatg c.*2520
. . . . . . g.112064
tagacattatacatggttggttgtctcttcttgaaactgtaatgtaaatctagggtccag c.*2580
. . . . . . g.112124
tcatatcctaggtatcatcatttatccaagtacttggaggaatacaagtatatataaata c.*2640
. . . . . . g.112184
cagtcattgagaataagtcgatttgaggcatacaagagtagtttcttacacagtttaaca c.*2700
. . . . . . g.112244
cggcctgattcaagactctgataggattcaaacagataccggttaaccatgactaccaaa c.*2760
. . . . . . g.112304
actgatcatctgagtcgattgatagaggtgtgactagtccttagcactttttctcattcc c.*2820
. . . . . . g.112364
tctttttattcagcattgctgttacctatttcaggtttataagacctctttcagcagatc c.*2880
. . . . . . g.112424
acatcagaagccaggaaatgcatagctaggagatgtcaaaagcccatatgaggagtggac c.*2940
. . . . . . g.112484
caagcagcagtggcggtttctcctcgcatctttttttttttaagctttaacttagcaggg c.*3000
. . . . . . g.112544
gcatggactttatagcactttttcaactttttgctttgctttggataagaaatccttacc c.*3060
. . . . . . g.112604
tttaaaaaaagcttctagtctccataacccccaaagtactgcttatttgtttgaagaatc c.*3120
. . . . . . g.112664
cagccatcgtagtgctttagtcactatcgtaaacattcatgatagggcaaggattttaaa c.*3180
. . . . . . g.112724
acaggattcttgcttctgtagtcatcaaggtgaacagaagcatcctacacaaccactaag c.*3240
. . . . . . g.112784
ggctctatgtttgtgtcatgcctcttcaaacaccaaggagttgaacatgcttccagtgat c.*3300
. . . . . . g.112844
ttgtctccgtaatgccttcttcctttatttggcctttctttctttctgtaccttcaagtt c.*3360
. . . . . . g.112904
cttgatttttaaaattccaactctagagaaaaccaatatatggtggtgctgggctttgaa c.*3420
. . . . . . g.112964
gatagcatatcagacgccttggttctgtttgtacacttagccttacatttcaggaggagg c.*3480
. . . . . . g.113024
cttttcattaggggcttaagctagctcctttggcttttaaaaaaaattttttttcaaatt c.*3540
. . . . . . g.113084
tcttcattacctaagggagcctgcatctaaatttctcaactagttcagcctagctgaatt c.*3600
. . . . . . g.113144
ttctagtgtgttatacactttgcttccttcttattggtgaaaaccagggggatgagtggc c.*3660
. . . . . . g.113204
ttccatggagagatttcctgatttctcagggaggaaaaaagtgatgacatttaccactac c.*3720
. . . . . . g.113264
ttttatgtttttcccctttttccaaattgataaggatttctggttcctagtgatccggga c.*3780
. . . . . . g.113324
ttgggcaacagtgcagaactgccagtcatgccgtaggccgtgaagaaagaatgtgagtaa c.*3840
. . . . . . g.113384
ctgttgttttgcaaggatttgtagggttatgggcagttgttgtttgaagcattgctatga c.*3900
. . . . . . g.113444
cctaattcccaaggtatctttcctctcttggtgttctaggtaagccaatgagctttaatc c.*3960
. . . . . . g.113504
tctacttgctataaccgtgtgcttagaaaaagaggtgagagtagtggttttccttcaaac c.*4020
. . . . . . g.113564
tgtccacattcatgaagattatgaattgttaggacagccagggcaagatagaccctgtct c.*4080
. . . . . . g.113624
ctacaaaaatttttttctaaattaaccgggcatggtggtgcctgcctgtagtcccacctg c.*4140
. . . . . . g.113684
tgtgggagaatcacttgagcctgggaggtcaaggctgcagtgagccatgattgcacccct c.*4200
. . . . . . g.113744
gcactccagcctgggtgacagagtgagaccctggctcaataagagggggaaaaaaaattg c.*4260
. . . . . . g.113804
ttaggagctgggtgcggatgcagcctgcaatcccagctacttgagaggctgaggccggag c.*4320
. . . . . . g.113864
gattgcttaaacccaagaatttgagcgtagcctgggcaacacagcaagaccccatctaag c.*4380
. . . . . . g.113924
aaaaaaatgttttttaaatcagcttagcccaaaggggttgtgaatggggaggtataaaaa c.*4440
. . . . . . g.113984
gcaaagattattttttggctactaagccaagaacttacagggattttttttttcagtccc c.*4500
. . . . . . g.114044
agaacctacagataccctgctacttgcttcacgtggatgctcagtgcccagcagccatct c.*4560
. . . . . . g.114104
taatacattaaaccagtttaaaaaataccttccatgtggagaaaaacatgtctttttctc c.*4620
. . . . . . g.114164
gcctcaactttatccacatgaaatatgtgcccatggctgggcgcagtggctcacctgtaa c.*4680
. . . . . . g.114224
tcccaacactttgggaggctgaagcaggcagattgcttgaggccaggagttcgagaacag c.*4740
. . . . . . g.114284
tctggccaacatggcgaaacctcatctctactaaaattacaaaaattagccgggcatggt c.*4800
. . . . . . g.114344
ggcacatgcctgtaatcccagctacgtcaggaggctgaggcacaggaattgcttgaaccc c.*4860
. . . . . . g.114404
aagaggcagaggatgcaatgagccaagatcacaccactgcactccagccttggcgacaga c.*4920
. . . . . . g.114464
gggagactctgtctcaaaaaaaaaaaaaaaaggtgtgcccaggcccctagccattgccat c.*4980
. . . . . . g.114524
gtgcccagccagagagccaaattagagggctggcttccctatcacacagaataaatgcta c.*5040
. . . . . . g.114584
gtgctagccaatgatccctttgcttttaatgtatagaaaatactgttgttccttttgtca c.*5100
. . . . . . g.114644
tttccagtgacatctgttttctaagcagctcttttctagggaggaaaccaaaggggctag c.*5160
. . . . . . g.114704
gttaagaccctaatagaaatgttttttctaatctctggtgagtctggaagtgtcacattc c.*5220
. . . . . . g.114764
acagtccacccttgggagtggcttggtggagctggggacaaggttttgtttactacatag c.*5280
. . . . . . g.114824
tgcacatgataaatggccttaaactgtgattctttctggtaggataagttataataaact c.*5340
. . . . . . g.114884
gaccctaaagaatgcaatggcttttaaactgcagttactgtgttcttaatgaagcaatac c.*5400
. . . . . . g.114944
ccaaagctctgttcttttggagcacttgaggggagcttgaatgaaaggtgcagataagag c.*5460
. . . . . . g.115004
cagtaccttgatcttatgctttctgagtgtcctgccttgttgccatctgcatggatgagt c.*5520
. . . . . . g.115064
gaatgcttctatgcacgaggagactcaagccaactcagagtctgctttttccaacgctct c.*5580
. . . . . . g.115124
tcccaggtttcttttgcaaagcttggtcatttggcccaggtcttcctggaaagtggagta c.*5640
. . . . . . g.115184
catgtcactgactagggtggcgtggtgtctttacccttaacattaagtcttgttacctca c.*5700
. . . . . . g.115244
gtgatgtgaagccaatggttggaattataaaaagcatccttgctggttcttcacaggaca c.*5760
. . . . . . g.115304
ctggaacccaccctgtcaattcagctagcatgtccacacagtcttgatgatccctctctg c.*5820
. . . . . . g.115364
taacaggcagctaacattaagagaagggggaaagagaagaagagagcaatagcttatggg c.*5880
. . . . . . g.115424
agagctgagatcttacttcgttgacccatatttttcccctgaccaagttacctgtaaact c.*5940
. . . . . . g.115484
ggaatttgcaaggggatgctgtgatgataacccctttctattgctgtaatgttcatataa c.*6000
. . . . . . g.115544
cctgggaaactgagagaaggggatgtgtaaataaaagcttaaacattttagtaatgtgtt c.*6060
. . . . . . g.115604
aaaatgtcactctctcttaccctgtttcccttttttgccagatgatgatttttttatttt c.*6120
. . . . . . g.115664
tattttgtactttactggatgactgtgaagcgatgagtattgggttggggtaggtgtgtt c.*6180
. . . . . . g.115724
gattttgagagtgcatgttaagaactgaaggggaactacttgagatgacttaagaagcat c.*6240
. . . . g.115771
cccatgcaaatatcttgttttgccctaataaaatattcagaaagata c.*6287
(downstream sequence)
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