(used for mutation description)
(last modified November 26, 2010)
This file was created to facilitate the description of sequence variants in the LARGE gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_009929.1, covering LARGE transcript variant 1 (NM_004737.4). Transcript variant 2 (NM_133642.3) skips exon 2.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5039
gggggcgcggccgcgctcgtctcgccgggctgttcgcgg c.-541
. . . . . . g.5099
gcaggccctgccctgaagggacgaatcggcttggagcgcgggaggtggagtcggccccgg c.-481
. . . . . . g.5159
cggtcgctccctggacccaacccgaggctgacccaggcccctgcccatgcggggcgcccc c.-421
. . . . . . g.5219
tggctcggaagagtcccccgggccgggagcagctccaggcagcggccccggaggaagagg c.-361
. . . . . . g.5279
aagaagggacagtgctcagcttgggggacccggaccctcgccgcggcatttggagccggg c.-301
. . . . . . g.5339
ggcagtcccgaactctgtgcttggcaccgccgctccgagtagggcagcgcctgccgggac c.-241
. . . . . . g.5399
cctgacccggaccccctgcgcctcgtaggcggcggcgccgccgcgccaccctgttcttcc c.-181
. . . . | 02 . . g.68651
gtgtctccctctgcctggcggcagtcacggccaag | aacctacattaagaaacgcattcag c.-121
^ alternatively spliced exon
. . . . | 03. . g.163893
atgcatcagccgtttgtaaagcacctgtcgtgagccag | agagtattatgagggaggccga c.-61
. . . . . . g.163953
ggacttcatgctccggacagagaaacggcgctgggattagggattgccacttctgagagg c.-1
. . . . . . g.164013
ATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGC c.60
M L G I C R G R R K F L A A S L S L L C p.20
. . . . | 04 . . g.274776
ATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAG | ATGGAAAGCCCGTG c.120
I P A I T W I Y L F S G S F E D | G K P V p.40
. . . . . . g.274836
TCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGG c.180
S L S P L E S Q A H S P R Y T A S S Q R p.60
. . . . . . g.274896
GAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCCGC c.240
E R E S L E V R M R E V E E E N R A L R p.80
. . . . . . g.274956
AGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAG c.300
R Q L S L A Q G R A P S H R R G N H S K p.100
. . . . . . g.275016
ACCTACTCCATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCA c.360
T Y S M E E G T G D S E N L R A G I V A p.120
. . . . | 05 . g.299118
GGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAG | ACAATCCACGTT c.420
G N S S E C G Q Q P V V E K C E | T I H V p.140
. . . . . . g.299178
GCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTC c.480
A I V C A G Y N A S R D V V T L V K S V p.160
. | 06 . . . . . g.320921
CTGTTCCATAG | ACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAG c.540
L F H R | R N P L H F H L I A D S I A E Q p.180
. . . . . . g.320981
ATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAAT c.600
I L A T L F Q T W M V P A V R V D F Y N p.200
. | 07 . . . . . g.360456
GCAGACGAGCTCAAG | TCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTAT c.660
A D E L K | S E V S W I P N K H Y S G I Y p.220
. . . . . . g.360516
GGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTC c.720
G L M K L V L T K T L P A N L E R V I V p.240
. . . . . . g.360576
CTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAG c.780
L D T D I T F A T D I A E L W A V F H K p.260
| 08. . . . . . g.493218
TTCAAAG | GTCAGCAAGTCCTGGGCTTGGTGGAGAACCAGAGTGACTGGTACCTTGGAAAC c.840
F K G | Q Q V L G L V E N Q S D W Y L G N p.280
. . . . . | 09 . g.541134
CTGTGGAAAAATCACCGCCCATGGCCAGCCCTTGGAAGAGGCTACAACACAG | GGGTGATC c.900
L W K N H R P W P A L G R G Y N T G | V I p.300
. . . . . . g.541194
CTGTTACTTCTGGATAAGCTGCGGAAGATGAAATGGGAGCAGATGTGGAGGCTGACCGCA c.960
L L L L D K L R K M K W E Q M W R L T A p.320
. . . . | 10 . . g.543401
GAGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAG | GATATTTTCAATGCC c.1020
E R E L M G M L S T S L A D Q | D I F N A p.340
. . . . . . g.543461
GTCATCAAACAAAACCCCTTCCTTGTGTACCAGCTCCCCTGCTTCTGGAATGTGCAGCTG c.1080
V I K Q N P F L V Y Q L P C F W N V Q L p.360
. . . . . | 11 . g.587638
TCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAG | GTCATTCAC c.1140
S D H T R S E Q C Y R D V S D L K | V I H p.380
. . . . . . g.587698
TGGAACTCCCCCAAGAAGCTCCGGGTGAAGAACAAGCATGTGGAGTTTTTTCGCAACCTC c.1200
W N S P K K L R V K N K H V E F F R N L p.400
. . . . . . g.587758
TACCTGACCTTCCTGGAGTATGACGGCAATCTTCTGAGGCGGGAACTGTTTGGCTGCCCC c.1260
Y L T F L E Y D G N L L R R E L F G C P p.420
. . | 12. . . . g.609215
AGTGAGGCTGATGTCAACAGTGAAAAC | CTCCAGAAGCAGCTGTCTGAGCTGGACGAGGAC c.1320
S E A D V N S E N | L Q K Q L S E L D E D p.440
. . . . . . g.609275
GACCTGTGCTATGAGTTCCGGCGAGAGCGCTTCACTGTCCACCGCACCCACCTGTACTTC c.1380
D L C Y E F R R E R F T V H R T H L Y F p.460
. . . . . . g.609335
CTGCACTACGAGTATGAGCCTGCAGCAGACAGCACGGACGTCACCCTGGTCGCTCAGCTG c.1440
L H Y E Y E P A A D S T D V T L V A Q L p.480
. | 13 . . . . . g.620972
TCCATGGACAG | GCTCCAGATGCTGGAGGCCATCTGCAAGCACTGGGAGGGGCCCATCAGC c.1500
S M D R | L Q M L E A I C K H W E G P I S p.500
. . . . . . g.621032
CTGGCCCTCTACCTGTCAGACGCCGAGGCCCAGCAGTTCCTCCGCTACGCACAGGGCTCT c.1560
L A L Y L S D A E A Q Q F L R Y A Q G S p.520
. . . . . . g.621092
GAGGTGCTTATGAGCCGCCACAACGTGGGCTACCACATCGTGTACAAGGAGGGCCAGTTC c.1620
E V L M S R H N V G Y H I V Y K E G Q F p.540
. . . . . . g.621152
TACCCCGTGAACCTGCTGCGCAACGTGGCCATGAAGCACATCAGCACTCCCTACATGTTC c.1680
Y P V N L L R N V A M K H I S T P Y M F p.560
. . . . . | 14 . g.642092
CTGTCTGACATTGACTTCCTGCCCATGTATGGGCTCTATGAGTACCTCAG | GAAGTCTGTC c.1740
L S D I D F L P M Y G L Y E Y L R | K S V p.580
. . . . . . g.642152
ATCCAGCTCGATCTTGCCAACACCAAGAAAGCAATGATTGTCCCCGCGTTCGAGACACTG c.1800
I Q L D L A N T K K A M I V P A F E T L p.600
. . . . . . g.642212
CGCTACCGGCTGTCCTTCCCCAAGTCAAAAGCGGAGTTGCTGTCAATGCTGGACATGGGG c.1860
R Y R L S F P K S K A E L L S M L D M G p.620
. | 15. . . . . g.648218
ACCCTCTTCACATTCAG | GTACCACGTCTGGACGAAAGGCCACGCACCCACAAACTTCGCC c.1920
T L F T F R | Y H V W T K G H A P T N F A p.640
. . . . . . g.648278
AAGTGGCGGACCGCCACCACGCCTTACCGGGTTGAGTGGGAGGCCGATTTTGAGCCGTAT c.1980
K W R T A T T P Y R V E W E A D F E P Y p.660
. . . . . . g.648338
GTTGTTGTGAGACGTGACTGCCCGGAGTACGACCGGAGGTTTGTAGGCTTTGGCTGGAAC c.2040
V V V R R D C P E Y D R R F V G F G W N p.680
. . . | 16 . . . g.650833
AAAGTGGCTCATATCATGGAGCTGGATGTGCAG | GAGTATGAGTTCATTGTGCTGCCCAAC c.2100
K V A H I M E L D V Q | E Y E F I V L P N p.700
. . . . . . g.650893
GCCTACATGATCCACATGCCTCATGCCCCCAGCTTCGACATTACCAAGTTCCGTTCCAAC c.2160
A Y M I H M P H A P S F D I T K F R S N p.720
. . . . . . g.650953
AAGCAATACCGCATCTGTCTCAAAACCCTCAAGGAAGAGTTTCAGCAGGACATGTCCCGC c.2220
K Q Y R I C L K T L K E E F Q Q D M S R p.740
. . . . . g.651004
CGCTACGGCTTTGCTGCCCTGAAATATCTCACAGCCGAGAACAACAGCTAG c.2271
R Y G F A A L K Y L T A E N N S X p.756
. . . . . . g.651064
caccaagaagcccaccactagggggagacatgctgtaggggaagtgccactcgctgtttg c.*60
. . . . . . g.651124
gggcccggccttcaaattcaaaattgagccatgctttttcggtttgtttttatttatctc c.*120
. . . . . . g.651184
tttggcccagccaagctgccctcactacagagaccttggacaaggatccagccagtccct c.*180
. . . . . . g.651244
ctctgccccacaaccctgcattcccagaggttagctatgcagcccacctagatgagtctc c.*240
. . . . . . g.651304
ttcaagaatgggaaatcaaggggtgacagggagtaaaagggttatcatcttactgcaaag c.*300
. . . . . . g.651364
ccacaagatcagggcagggctttaggatgttctggatgctttttaataattatgcttccc c.*360
. . . . . . g.651424
atcataactggggagaaagggaagtcagggttctaggggttattcgtcccaggaaataga c.*420
. . . . . . g.651484
agtgaaattgtctttattaagtgaaaactttcccctttgccctgcaatgtagctgggcat c.*480
. . . . . . g.651544
tcaaacggagggcaaaccgatgatctaaaccaaccacttggaaaaacccaatggggacat c.*540
. . . . . . g.651604
tgtaaccagagggtcctggaggtggggttgatgggtttccttatccccaaagtcactcct c.*600
. . . . . . g.651664
gttttgttttgtttttctttgggggttttgtttatttttggggctggcaatccaaaatag c.*660
. . . . . . g.651724
aaaatctgatcctttgaggctctaaaggaaaatcagctgcctctaccaaccaccctctat c.*720
. . . . . . g.651784
cagcagtggcccaggaaggaggtcaagcatcttcggccgatatttaaacatgggcagctt c.*780
. . . . . . g.651844
ccttcaggatgatcaccgaggctcccgtgactttgaactccctactctccagaatccagg c.*840
. . . . . . g.651904
ggctatagcgatggggactgcggaattacgagggctggctgttttacaccggtcacattt c.*900
. . . . . . g.651964
tctattggcagtgactgattcatgggaaagggctttgaaggaactacttcagtgcacaca c.*960
. . . . . . g.652024
caaggtacgaacctctcaggcctttcgaagaactttcataattcatgaaagcccagttct c.*1020
. . . . . . g.652084
gaagattcacgtatccatctggagacctacaggaagaaagtgattgggttcctctggttc c.*1080
. . . . . . g.652144
ttgcctgcttcactgtggatgggaagaggtgacaacctcagtctccctttgggacctgtc c.*1140
. . . . . . g.652204
caagggtaggcaaccaccttcaccttcacacagattgaggagacactggactttttaccc c.*1200
. . . . . . g.652264
attttctttaatcttcaatattaatattgtgtttacattgatgagaacaagagttaatgc c.*1260
. . . . . . g.652324
cctaccctctgctgggctgtttgtattgagttgcaatgtgaccagcgaaagctgcattta c.*1320
. . . g.652355
ataaatgaaagtacagactgtttcttcccca c.*1351
(downstream sequence)
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