(used for mutation description)
(last modified October 27, 2012)
This file was created to facilitate the description of sequence variants in the ASAH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008985.1, covering ASAH1 transcript NM_004315.4.
(upstream sequence)
. g.5017
agtgcaacccagagggc c.-181
. . . . . . g.5077
aggatttcctgctggactttgaaatccaacccggtcacctacccgcgcgactgtgtccac c.-121
. . . . . . g.5137
ggatggcacgaaagccaagcgagtccccctgccgagctactcgcgtccgcctcctcccaa c.-61
. . . . . . g.5197
gctgagctctgctccgcccacctgagtccttcgccagttaggaggaaacacagccgctta c.-1
. . . . . . g.5257
ATGAACTGCTGCATCGGGCTGGGAGAGAAAGCTCGCGGGTCCCACCGGGCCTCCTACCCA c.60
M N C C I G L G E K A R G S H R A S Y P p.20
. . . . . . g.5317
AGTCTCAGCGCGCTTTTCACCGAGGCCTCAATTCTGGGATTTGGCAGCTTTGCTGTGAAA c.120
S L S A L F T E A S I L G F G S F A V K p.40
| 02 . . . . . | 03 . g.18615
GCCCAA | TGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAAC | GTACAGA c.180
A Q | W T E D C R K S T Y P P S G P T | Y R p.60
. . . . . . g.18675
GGTGCAGTTCCATGGTACACCATAAATCTTGACTTACCACCCTACAAAAGATGGCATGAA c.240
G A V P W Y T I N L D L P P Y K R W H E p.80
. . | 04 . . . . g.20156
TTGATGCTTGACAAGGCACCAGTG | CTAAAGGTTATAGTGAATTCTCTGAAGAATATGATA c.300
L M L D K A P V | L K V I V N S L K N M I p.100
. . . . . | 05 . g.22709
AATACATTCGTGCCAAGTGGAAAAATTATGCAGGTGGTGGATGAAAAATTG | CCTGGCCTA c.360
N T F V P S G K I M Q V V D E K L | P G L p.120
. . . . . . g.22769
CTTGGCAACTTTCCTGGCCCTTTTGAAGAGGAAATGAAGGGTATTGCCGCTGTTACTGAT c.420
L G N F P G P F E E E M K G I A A V T D p.140
. | 06 . . . . . g.25517
ATACCTTTAG | GAGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTACT c.480
I P L G | E I I S F N I F Y E L F T I C T p.160
. . | 07 . . . . g.26803
TCAATAGTAGCAGAAGACAAAAAAG | GTCATCTAATACATGGGAGAAACATGGATTTTGGA c.540
S I V A E D K K G | H L I H G R N M D F G p.180
. | 08 . . . . . g.27624
GTATTTCTTGG | GTGGAACATAAATAATGATACCTGGGTCATAACTGAGCAACTAAAACCT c.600
V F L G | W N I N N D T W V I T E Q L K P p.200
. . . . . . g.27684
TTAACAGTGAATTTGGATTTCCAAAGAAACAACAAAACTGTCTTCAAGGCTTCAAGCTTT c.660
L T V N L D F Q R N N K T V F K A S S F p.220
. . . | 09 . . . g.28282
GCTGGCTATGTGGGCATGTTAACAGGATTCAAACCA | GGACTGTTCAGTCTTACACTGAAT c.720
A G Y V G M L T G F K P | G L F S L T L N p.240
. . . | 10 . . . g.28569
GAACGTTTCAGTATAAATGGTGGTTATCTGG | GTATTCTAGAATGGATTCTGGGAAAGAAA c.780
E R F S I N G G Y L G | I L E W I L G K K p.260
. . . . . | 11 . g.30302
GATGTCATGTGGATAGGGTTCCTCACTAGAACAGTTCTGGAAAATAGCACAAG | TTATGAA c.840
D V M W I G F L T R T V L E N S T S | Y E p.280
. . . . . . g.30362
GAAGCCAAGAATTTATTGACCAAGACCAAGATATTGGCCCCAGCCTACTTTATCCTGGGA c.900
E A K N L L T K T K I L A P A Y F I L G p.300
. . . . . . g.30422
GGCAACCAGTCTGGGGAAGGTTGTGTGATTACACGAGACAGAAAGGAATCATTGGATGTA c.960
G N Q S G E G C V I T R D R K E S L D V p.320
| 12 . . . . . . g.30589
TATGA | ACTCGATGCTAAGCAGGGTAGATGGTATGTGGTACAAACAAATTATGACCGTTGG c.1020
Y E | L D A K Q G R W Y V V Q T N Y D R W p.340
. . . . . . g.30649
AAACATCCCTTCTTCCTTGATGATCGCAGAACGCCTGCAAAGATGTGTCTGAACCGCACC c.1080
K H P F F L D D R R T P A K M C L N R T p.360
| 13 . . . . . g.31158
AGCCAAGAG | AATATCTCATTTGAAACCATGTATGATGTCCTGTCAACAAAACCTGTCCTC c.1140
S Q E | N I S F E T M Y D V L S T K P V L p.380
| 14 . . . . . . g.32429
AACAAG | CTGACCGTATACACAACCTTGATAGATGTTACCAAAGGTCAATTCGAAACTTAC c.1200
N K | L T V Y T T L I D V T K G Q F E T Y p.400
. . . g.32465
CTGCGGGACTGCCCTGACCCTTGTATAGGTTGGTGA c.1236
L R D C P D P C I G W X p.411
. . . . . . g.32525
gcacacgtctggcctacagaatgcggcctctgagacatgaagacaccatctccatgtgac c.*60
. . . . . . g.32585
cgaacactgcagctgtctgaccttccaaagactaagactcgcggcaggttctctttgagt c.*120
. . . . . . g.32645
caatagcttgtcttcgtccatctgttgacaaatgacagatcttttttttttccccctatc c.*180
. . . . . . g.32705
agttgatttttcttatttacagataacttctttaggggaagtaaaacagtcatctagaat c.*240
. . . . . . g.32765
tcactgagttttgtttcactttgacatttggggatctggtgggcagtcgaaccatggtga c.*300
. . . . . . g.32825
actccacctccgtggaataaatggagattcagcgtgggtgttgaatccagcacgtctgtg c.*360
. . . . . . g.32885
tgagtaacgggacagtaaacactccacattcttcagtttttcacttctacctacatattt c.*420
. . . . . . g.32945
gtatgtttttctgtataacagccttttccttctggttctaactgctgttaaaattaatat c.*480
. . . . . . g.33005
atcattatctttgctgttattgacagcgatataattttattacatatgattagagggatg c.*540
. . . . . . g.33065
agacagacattcacctgtatatttcttttaatgggcacaaaatgggcccttgcctctaaa c.*600
. . . . . . g.33125
tagcactttttggggttcaagaagtaatcagtatgcaaagcaatcttttatacaataatt c.*660
. . . . . . g.33185
gaagtgttccctttttcataattactctacttcccagtaaccctaaggaagttgctaact c.*720
. . . . . . g.33245
taaaaaactgcatcccacgttctgttaatttagtaaataaacaagtcaaagacttgtgga c.*780
. . . . . . g.33305
aaataggaagtgaacccatattttaaattctcataagtagcattcatgtaataaacaggt c.*840
. . . . . . g.33365
ttttagtttgttcttcagattgatagggagttttaaagaaattttagtagttactaaaat c.*900
. . . . . . g.33425
tatgttactgtatttttcagaaatcaaactgcttatgaaaagtactaatagaacttgtta c.*960
. . . . . . g.33485
acctttctaaccttcacgattaactgtgaaatgtacgtcatttgtgcaagaccgtttgtc c.*1020
. . . . . . g.33545
cacttcattttgtataatcacagttgtgttcctgacactcaataaacagtcactggaaag c.*1080
. . . g.33583
agtgccagtcagcagtcatgcacgctgattgggtgtgt c.*1118
(downstream sequence)
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