(used for mutation description)
(last modified July 13, 2012)
This file was created to facilitate the description of sequence variants in the SPTLC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007950.1, covering SPTLC1 transcript NM_006415.2.
(upstream sequence)
. . . g.5038
gcgcttgtgacccgccttccggaaggaagcggctaact c.-1
. . . . . | 02. g.7849
ATGGCGACCGCCACGGAGCAGTGGGTTCTGGTGGAGATGGTACAGGCGCTTTACGAG | GCT c.60
M A T A T E Q W V L V E M V Q A L Y E | A p.20
. . . . . . g.7909
CCTGCTTACCATCTTATTTTGGAAGGGATTCTGATCCTCTGGATAATCAGACTTCTTTTC c.120
P A Y H L I L E G I L I L W I I R L L F p.40
. . . . | 03 . . g.11589
TCTAAGACTTACAAATTACAAGAACGATCTGATCTTACAGTCAAG | GAAAAAGAAGAACTG c.180
S K T Y K L Q E R S D L T V K | E K E E L p.60
. . . . . . g.11649
ATTGAAGAGTGGCAACCAGAACCTCTTGTTCCTCCTGTCCCAAAAGACCATCCTGCTCTC c.240
I E E W Q P E P L V P P V P K D H P A L p.80
. . | 04 . . . . g.39485
AACTACAACATCGTTTCAGG | CCCTCCAAGCCACAAAACTGTGGTGAATGGAAAAGAATGT c.300
N Y N I V S G | P P S H K T V V N G K E C p.100
. . . . . | 05 . g.40326
ATAAACTTCGCCTCATTTAATTTTCTTGGATTGTTGGATAACCCTAGGGTTAAG | GCAGCA c.360
I N F A S F N F L G L L D N P R V K | A A p.120
. . . . . . g.40386
GCTTTAGCATCTCTAAAGAAGTATGGCGTGGGGACTTGTGGACCCAGAGGATTTTATGGC c.420
A L A S L K K Y G V G T C G P R G F Y G p.140
| 06. . . . . . g.52363
ACATTTG | ATGTTCATTTGGATTTGGAAGACCGCCTGGCAAAATTTATGAAGACAGAAGAA c.480
T F D | V H L D L E D R L A K F M K T E E p.160
. . . . . . g.52423
GCCATTATATACTCATATGGATTTGCCACCATAGCCAGTGCTATTCCTGCTTACTCTAAA c.540
A I I Y S Y G F A T I A S A I P A Y S K p.180
. . | 07 . . . . g.61140
AGAGGGGACATTGTTTTTGT | AGATAGAGCTGCCTGCTTTGCTATTCAGAAAGGATTACAG c.600
R G D I V F V | D R A A C F A I Q K G L Q p.200
. . . . . . g.61200
GCATCCCGTAGTGACATTAAGTTATTTAAGCATAATGACATGGCTGACCTCGAGCGACTA c.660
A S R S D I K L F K H N D M A D L E R L p.220
. . . | 08 . . . g.64944
CTAAAAGAACAAGAGATCGAAGATCAAAAG | AATCCTCGCAAGGCTCGTGTAACTCGGCGT c.720
L K E Q E I E D Q K | N P R K A R V T R R p.240
. . . . . . g.65004
TTCATTGTAGTAGAAGGATTGTATATGAATACTGGAACTATTTGTCCTCTTCCAGAATTG c.780
F I V V E G L Y M N T G T I C P L P E L p.260
| 09 . . . . . . g.70401
| GTTAAGTTAAAATACAAATACAAAGCAAGAATCTTCCTGGAGGAAAGCCTTTCATTTGGA c.840
| V K L K Y K Y K A R I F L E E S L S F G p.280
. . . . | 10 . g.72712
GTCCTAGGAGAGCATGGCCGAGGAGTCACTGAACACTATGGAATCAAT | ATTGATGATATT c.900
V L G E H G R G V T E H Y G I N | I D D I p.300
. . . . . . g.72772
GATCTTATCAGTGCCAACATGGAGAATGCACTTGCTTCTATTGGAGGTTTCTGCTGTGGC c.960
D L I S A N M E N A L A S I G G F C C G p.320
. . | 11 . . . . g.73176
AGGTCTTTTGTAATTGACCATCAG | CGACTTTCCGGCCAGGGATACTGCTTTTCAGCTTCG c.1020
R S F V I D H Q | R L S G Q G Y C F S A S p.340
. . . . . . g.73236
TTACCTCCCCTGTTAGCTGCTGCAGCAATTGAGGCCCTCAACATCATGGAAGAGAATCCA c.1080
L P P L L A A A A I E A L N I M E E N P p.360
| 12 . . . . . | 13 . g.82047
G | GTATTTTTGCAGTGTTGAAGGAAAAGTGCGGACAAATTCATAAAGCTTTACAAGG | CATT c.1140
G | I F A V L K E K C G Q I H K A L Q G | I p.380
. . . . . . g.82107
TCTGGATTAAAAGTGGTGGGGGAGTCCCTTTCTCCAGCCTTTCACCTACAACTGGAAGAG c.1200
S G L K V V G E S L S P A F H L Q L E E p.400
. . . . . | 14 . g.85531
AGCACTGGGTCTCGCGAGCAAGATGTCAGACTGCTTCAGGAAATTGTAGATCAA | TGCATG c.1260
S T G S R E Q D V R L L Q E I V D Q | C M p.420
. . . . . . g.85591
AACAGAAGTATTGCATTAACTCAGGCGCGCTACTTGGAGAAAGAAGAGAAGTGTCTCCCT c.1320
N R S I A L T Q A R Y L E K E E K C L P p.440
| 15 . . . . . g.87902
CCTCCCAG | CATTCGGGTTGTGGTCACGGTGGAACAAACAGAGGAAGAACTGGAGAGAGCT c.1380
P P S | I R V V V T V E Q T E E E L E R A p.460
. . . . g.87944
GCGTCCACCATCAAGGAGGTAGCCCAGGCCGTCCTGCTCTAG c.1422
A S T I K E V A Q A V L L X p.473
. . . . . . g.88004
gcagagtcccgggaccatggcctcctgccacacaacacgcagagaggactcaagactccc c.*60
. . . . . . g.88064
gctggccatggagtggcctgaaagagagcaagaacatgtggatctttgataggattgtta c.*120
. . . . . . g.88124
ccaaatggtgtcagtatggaccaattgtgtgaccatgagaaggatgcttattttttttaa c.*180
. . . . . . g.88184
aaagaaaacacatctaaaagcccaggaactgatttttttaagaggaaaactaatgacagt c.*240
. . . . . . g.88244
gtataactgatgtttaaattgtgcatttagtactatttaaatgttttcttatactagtat c.*300
. . . . . . g.88304
tttatattcttttgttgtcgtttaaaactggagcttcagtgtctcttccctccctctaat c.*360
. . . . . . g.88364
agtaatggttcagtaagcactccttaactccttagtatttcatagaaaaatgactgcaac c.*420
. . . . . . g.88424
attaaagctaagaggaacacttcaacatatgtggtacaaatttatattgaagatctaaat c.*480
. . . . . . g.88484
aaaccacgtattttccagtcttcgttgtgtgaagctaaatggtggctaaaaggaacactt c.*540
. . . . . . g.88544
tttgtgtgattattataaactttgcattgtatttgaatcttagaacttttgtacacacta c.*600
. . . . . . g.88604
aatattgatgtcacaccatttctaatctgagcatccttagccagagaatattcattatac c.*660
. . . . . . g.88664
ttcctaagtgagcaataatttaaatcagaagctattttattttaatgtaattaacctttc c.*720
. . . . . . g.88724
tttacatttcttatgtgttcacctctaatctgttttaggaagagagttggttattatgtt c.*780
. . . . . . g.88784
gatcccataatataaatcatatcctttatattttagaatatctcaaatgtattccttttt c.*840
. . . . . . g.88844
tgtatggtgggtttgcctagggacgtgtaactacaggcttttactaagccaaggaaaaag c.*900
. . . . . . g.88904
agaatttttcttttcatcttacaaattccagatatctacaaaagatgtgaaagcactaaa c.*960
. . . . . . g.88964
aataccatttttaagcagtactttacctgttttttctttagcaaaccaggttatgtggtg c.*1020
. . . . . . g.89024
taaaggtttgttatacgtgccacaatatagcatataaatattatgccatcattccttctc c.*1080
. . . . . . g.89084
ttgttaaaggtagaagaataaaattgtgatttttataacctgtgcttattactcaaatgg c.*1140
. . . . . . g.89144
tcttcaacatctttttaaacaacacatactttttgaatgttcagtttctattttgcttga c.*1200
. . . . . . g.89204
ggtattttgtacatatgtgccttgtgattgctgctgctttaaaggataaagtactctttg c.*1260
. . . . . . g.89264
ggggatgagtctggtttgttttgttttattttttaatgaaataaacctatattcctgatt c.*1320
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2012 Leiden University Medical Center