(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the LAD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering LAD1 transcript NM_005558.3.
(upstream sequence)
. . . . . g.3859
ggtccacccagtgcttgcggcctcgcggccgggccggcctgggctgcaatcaatg c.-181
. . . . . . g.3919
cggctttgtctgggacgcccacatcccagaggccattcccgggtcggcaaatcggagcgc c.-121
. . . . . . g.3979
ggccggggcgcgcgggggtgagataagcggccatgtgatcccacctgggctggaagggga c.-61
. . . . . . g.4039
ggggcgccaggtgaggcggcggccggcggggcgcgggcggccacgcggggctcctgcagc c.-1
. . . | 02 . . g.14064
ATGGCTGTCAGCAGGAAGGACTGGTCCGCGCTGTCCAG | CCTTGCCCGGCAGAGGACTCTG c.60
M A V S R K D W S A L S S | L A R Q R T L p.20
. . . . . . g.14124
GAGGATGAGGAGGAACAGGAGCGCGAGCGCAGGCGGCGGCACCGCAACCTGAGCTCCACC c.120
E D E E E Q E R E R R R R H R N L S S T p.40
. . . . . . g.14184
ACGGACGATGAGGCTCCCAGGCTCAGCCAGAATGGAGACCGGCAGGCCTCTGCTTCTGAG c.180
T D D E A P R L S Q N G D R Q A S A S E p.60
| 03 . . . . . . g.16225
AG | ACTACCGAGCGTGGAAGAAGCAGAGGTGCCCAAGCCACTGCCCCCAGCCTCCAAAGAT c.240
R | L P S V E E A E V P K P L P P A S K D p.80
. . . . . . g.16285
GAGGACGAGGACATCCAGAGCATCCTCAGAACACGGCAGGAGCGGAGGCAGAGGCGGCAG c.300
E D E D I Q S I L R T R Q E R R Q R R Q p.100
. . . . . . g.16345
GTGGTGGAGGCTGCACAGGCCCCCATCCAGGAGAGGCTGGAGGCAGAGGAGGGGAGGAAC c.360
V V E A A Q A P I Q E R L E A E E G R N p.120
. . . . . . g.16405
AGCTTGAGCCCTGTGCAGGCCACACAGAAACCCCTAGTCTCCAAGAAGGAACTGGAAATC c.420
S L S P V Q A T Q K P L V S K K E L E I p.140
. . . . . . g.16465
CCACCTCGCCGGAGACTGAGTCGGGAACAGCGGGGCCCCTGGGCCCTGGAGGAGGAGAGC c.480
P P R R R L S R E Q R G P W A L E E E S p.160
. . . . . . g.16525
TTGGTGGGCAGGGAGCCAGAAGAGAGGAAGAAAGGGGTTCCAGAAAAGTCCCCAGTCTTG c.540
L V G R E P E E R K K G V P E K S P V L p.180
. . . . . . g.16585
GAGAAGTCCTCCATGCCAAAGAAGACGGCACCTGAAAAGAGCCTGGTCTCCGATAAAACC c.600
E K S S M P K K T A P E K S L V S D K T p.200
. . . . . . g.16645
TCCATCTCTGAGAAGGTGCTGGCCTCAGAGAAGACATCTCTATCAGAGAAGATAGCAGTG c.660
S I S E K V L A S E K T S L S E K I A V p.220
. . . . . . g.16705
TCAGAGAAAAGAAACAGCTCAGAGAAGAAGTCTGTTCTAGAAAAAACCAGTGTCTCTGAG c.720
S E K R N S S E K K S V L E K T S V S E p.240
. . . . . . g.16765
AAGTCGCTGGCCCCAGGGATGGCACTGGGCTCAGGAAGGAGGCTGGTGTCTGAGAAAGCT c.780
K S L A P G M A L G S G R R L V S E K A p.260
. . . . . . g.16825
TCCATCTTTGAGAAGGCACTGGCCTCAGAGAAGAGCCCAACTGCAGATGCTAAGCCGGCC c.840
S I F E K A L A S E K S P T A D A K P A p.280
. . . . . . g.16885
CCAAAGAGGGCCACAGCCTCAGAGCAGCCCCTGGCGCAGGAGCCGCCAGCCTCTGGGGGA c.900
P K R A T A S E Q P L A Q E P P A S G G p.300
. . . . . . g.16945
AGCCCAGCCACCACCAAGGAGCAGAGAGGAAGGGCCCTCCCTGGGAAGAACCTGCCCTCT c.960
S P A T T K E Q R G R A L P G K N L P S p.320
. . . . . . g.17005
TTGGCAAAGCAGGGGGCTTCAGACCCTCCGACTGTGGCCTCCCGCCTCCCACCCGTCACA c.1020
L A K Q G A S D P P T V A S R L P P V T p.340
| 04 . . . . . . g.17594
CTCCAG | GTGAAAATCCCCAGCAAGGAGGAAGAGGCAGATATGTCCTCACCCACACAGCGA c.1080
L Q | V K I P S K E E E A D M S S P T Q R p.360
. . . . . | 05 . g.18519
ACCTACAGCAGCTCCCTCAAACGCTCCAGCCCCAGGACCATCTCCTTTCGG | ATGAAACCC c.1140
T Y S S S L K R S S P R T I S F R | M K P p.380
. . . | 06 . . . g.19981
AAGAAAGAAAACTCGGAAACAACCCTAACTCGCAG | TGCCAGCATGAAGCTCCCAGACAAC c.1200
K K E N S E T T L T R S | A S M K L P D N p.400
. . . . | 07 . g.20146
ACAGTGAAGTTGGGAGAGAAGCTGGAGAGATACCACACGGCCATACGG | AGATCAGAATCT c.1260
T V K L G E K L E R Y H T A I R | R S E S p.420
. . . . . . g.20206
GTCAAGTCTCGGGGTCTGCCTTGCACTGAGTTATTCGTGGCTCCTGTGGGTGTAGCCAGC c.1320
V K S R G L P C T E L F V A P V G V A S p.440
. . . . . . g.20266
AAGCGCCACCTCTTTGAGAAGGAACTGGCGGGCCAGAGCCGAGCAGAACCAGCCTCCAGC c.1380
K R H L F E K E L A G Q S R A E P A S S p.460
| 08 . . . . . . g.20660
CGGAAG | GAGAACTTGAGGCTCTCAGGGGTTGTGACATCAAGGCTCAACCTGTGGATCAGC c.1440
R K | E N L R L S G V V T S R L N L W I S p.480
. . . | 09 . . . g.21046
AGGACCCAGGAATCTGGAGATCAGGACCCCCAG | GAGGCACAGAAAGCATCATCTGCAACC c.1500
R T Q E S G D Q D P Q | E A Q K A S S A T p.500
. . . . | 10 g.21464
GAGAGGACTCAGTGGGGACAGAAATCTGACTCCTCGCTGGACGCTGAG | GTGTGA c.1554
E R T Q W G Q K S D S S L D A E | V X p.517
. . . . . . g.21524
caagccccgccaagacagacctgcaagtcttcgtctcaagggacctccctcatgccaggc c.*60
. . . . . . g.21584
ccctgcctctcacagcagcaccctttcctctcattgtccctgttccctttttgcctgtgg c.*120
. . . . . . g.21644
atctgtttggccagggtccctggggtcaggaatatttgcaagactcagccagctccttcc c.*180
. . . . . . g.21704
cagcccagcctcttggggctgggactttctcaccctgcggcaggcacaacagatgctggg c.*240
. . . . . . g.21764
acccagtctctgcccaggtcacagcacaagtgcacatcagcactatggggcctatgtcct c.*300
. . . . . . g.21824
gcccagagacctctgctccttcctgctcacatccacagtcagggcacggcgcccctcaag c.*360
. . . . . . g.21884
aactccagagtcacctgtctcatcggctcccagcaagtgcctctttgtctatgatgtccc c.*420
. . . . . . g.21944
ccttctctgaggcctggacccacccatctttgtccctggggcctgctcccagccactgag c.*480
. . . . . . g.22004
gcccgctctggccaggggagaaggagctgccgtgcgtcttccctgtgccccgtctccctg c.*540
. . . . . . g.22064
cttggttctcccctcccttccctggccggctgccatggccaggagctaagtgcctttttg c.*600
. . . . . . g.22124
tgtgcaaccacttaccctttctctgaaaaacctgttctcaggaaggatctgataaactca c.*660
. . . . . . g.22184
tttactctcaggtgtaagagactgatgagaccttagaagcgaattcctctctggaggcct c.*720
. . . . . . g.22244
tgctttctagcagaggtcacctgaagtgtgtgaggaggatcatcattttcctcatccccc c.*780
. . . . . . g.22304
ctcttctcacattaaggtggtggcttgccactcagcagtcctagcttggtgactgggaac c.*840
. . . . . . g.22364
tgccacatacagggccaggcctaccctccttccccacaagccccctccaacccccacccc c.*900
. . . . . . g.22424
catgctctggacctcatggctcctatgagcttggagcatggtgaaccatcagagaatcta c.*960
. . . . . . g.22484
gaaccaaccaagctaggaacatcagcctggtgccctgttaaccccttaaagctgtggttt c.*1020
. . . g.22514
acaacttttcaaaaatttaaatcattagaa c.*1050
(downstream sequence)
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