(used for variant description)
(last modified September 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014845.5 in the FIG4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering FIG4 transcript NM_014845.5.
(upstream sequence)
. . . g.5035
acgtcctccagccccgctcccgacgtgaggggcgg c.-181
. . . . . . g.5095
ggcttgcctggaggcggggcgcagggatccggaaacacctgatcatctataggtttagtg c.-121
. . . . . . g.5155
cctaatgggtgttgttcctggctggacttgatgtccagggcctgaggggttttctcgccg c.-61
. . . . . . g.5215
agtctcctggggcggtccggaggctcgtgccctgttgtggggcccccatttgccgccgcc c.-1
. . . . . . g.5275
ATGCCCACGGCCGCCGCCCCCATCATCAGCTCGGTCCAGAAGCTGGTTCTGTATGAGACT c.60
M P T A A A P I I S S V Q K L V L Y E T p.20
| 02 . . . . . . g.28911
AGAGCT | AGATACTTTCTAGTTGGGAGCAATAATGCAGAAACGAAATATCGTGTCTTGAAG c.120
R A | R Y F L V G S N N A E T K Y R V L K p.40
. . . . | 03 . . g.30239
ATTGATAGAACAGAACCAAAAGATTTGGTCATAATTGATGACAGG | CATGTCTATACTCAA c.180
I D R T E P K D L V I I D D R | H V Y T Q p.60
. . . . . . g.30299
CAAGAAGTAAGGGAACTTCTTGGCCGCTTGGATCTTGGAAATAGAACAAAGATGGGACAG c.240
Q E V R E L L G R L D L G N R T K M G Q p.80
. . . . | 04 . g.40899
AAAGGATCCTCGGGCTTATTTCGAGCGGTTTCAGCTTTTGGTGTTGTGG | GTTTTGTCAGG c.300
K G S S G L F R A V S A F G V V G | F V R p.100
. . . . . . g.40959
TTCTTAGAAGGCTATTATATTGTGTTAATAACTAAAAGGAGGAAGATGGCGGATATTGGA c.360
F L E G Y Y I V L I T K R R K M A D I G p.120
. . . . . . g.41019
GGTCATGCAATCTATAAGGTCGAAGATACAAATATGATCTATATACCCAATGATTCTGTA c.420
G H A I Y K V E D T N M I Y I P N D S V p.140
. . | 05 . . . . g.46450
CGGGTTACTCATCCTGATGAAGCTAG | GTATCTACGAATATTTCAAAATGTGGACCTATCT c.480
R V T H P D E A R | Y L R I F Q N V D L S p.160
. | 06. . . . . g.48972
AGCAATTTTTACTTTAG | TTACAGCTATGATTTGTCCCACTCACTTCAATATAATCTCACT c.540
S N F Y F S | Y S Y D L S H S L Q Y N L T p.180
. . . . . . g.49032
GTCTTGCGAATGCCCCTGGAGATGTTAAAGTCAGAAATGACCCAGAATCGCCAAGAGAGC c.600
V L R M P L E M L K S E M T Q N R Q E S p.200
. . . . | 07 . . g.52118
TTTGACATCTTTGAAGATGAAGGATTAATTACACAAGGTGGAAGCG | GGGTATTTGGGATC c.660
F D I F E D E G L I T Q G G S G | V F G I p.220
. . . . . . g.52178
TGTAGTGAGCCTTATATGAAATATGTATGGAATGGTGAACTTCTGGATATAATTAAAAGT c.720
C S E P Y M K Y V W N G E L L D I I K S p.240
. . . . . | 08 . g.55228
ACTGTGCATCGTGACTGGCTTTTGTATATTATTCATGGGTTCTGTGGGCAGTCAA | AGCTG c.780
T V H R D W L L Y I I H G F C G Q S K | L p.260
. . . . . . g.55288
TTGATCTATGGACGACCAGTGTATGTCACTCTAATAGCTAGAAGATCCAGTAAATTTGCT c.840
L I Y G R P V Y V T L I A R R S S K F A p.280
. . . | 09 . . . g.56913
GGCACCCGTTTTCTTAAAAGAGGTGCAAACTGTGAG | GGTGATGTTGCAAATGAAGTGGAG c.900
G T R F L K R G A N C E | G D V A N E V E p.300
. . . . . . g.56973
ACTGAACAAATACTCTGCGATGCTTCTGTGATGTCTTTCACTGCAGGAAGTTATTCTTCA c.960
T E Q I L C D A S V M S F T A G S Y S S p.320
. . . . . . g.57033
TATGTACAAGTTAGAGGATCTGTGCCCTTATACTGGTCTCAGGACATTTCAACTATGATG c.1020
Y V Q V R G S V P L Y W S Q D I S T M M p.340
. | 10 . . . . g.57495
CCTAAACCACCTATTACAT | TGGATCAGGCAGATCCATTTGCACATGTGGCTGCCCTTCAC c.1080
P K P P I T L | D Q A D P F A H V A A L H p.360
. . . . . | 11. g.74032
TTTGACCAGATGTTCCAGAGGTTTGGCTCTCCCATCATCATCTTGAATTTAGTGAAG | GAA c.1140
F D Q M F Q R F G S P I I I L N L V K | E p.380
. . . . . . g.74092
CGAGAGAAAAGAAAGCATGAAAGAATTCTGAGTGAAGAACTTGTTGCTGCTGTGACCTAT c.1200
R E K R K H E R I L S E E L V A A V T Y p.400
. . . . . . g.74152
CTCAACCAATTTTTGCCTCCTGAGCACACTATTGTTTATATTCCCTGGGACATGGCCAAG c.1260
L N Q F L P P E H T I V Y I P W D M A K p.420
. | 12 . . . . . g.75919
TATACCAAAAG | CAAGCTGTGTAATGTTCTTGATCGACTAAATGTGATTGCAGAAAGTGTG c.1320
Y T K S | K L C N V L D R L N V I A E S V p.440
. . . . . . g.75979
GTGAAGAAAACAGGTTTCTTTGTAAACCGCCCTGATTCTTACTGTAGCATTTTGCGGCCA c.1380
V K K T G F F V N R P D S Y C S I L R P p.460
| 13 . . . . | 14 . g.78798
GATGAAAA | GTGGAATGAACTAGGAGGATGTGTGATTCCCACTGGTCGCCTGCAG | ACTGGC c.1440
D E K | W N E L G G C V I P T G R L Q | T G p.480
. . . . . . g.78858
ATCCTTCGAACCAACTGTGTGGACTGTTTAGATCGCACCAACACAGCACAGTTTATGGTG c.1500
I L R T N C V D C L D R T N T A Q F M V p.500
. . . . . . g.78918
GGAAAATGTGCTCTGGCCTATCAGCTGTATTCACTGGGACTGATTGACAAACCTAATCTA c.1560
G K C A L A Y Q L Y S L G L I D K P N L p.520
. . | 15 . . . . g.80545
CAGTTTGATACAGATGCAGTTAG | GTTATTTGAGGAACTCTATGAAGATCATGGTGATACC c.1620
Q F D T D A V R | L F E E L Y E D H G D T p.540
. . . . . . g.80605
CTATCCCTTCAGTATGGTGGTTCTCAACTTGTTCATCGTGTGAAAACCTACAGAAAGATA c.1680
L S L Q Y G G S Q L V H R V K T Y R K I p.560
. . . . . . g.80665
GCACCATGGACCCAGCACTCCAAAGACATCATGCAAACCCTGTCTAGATATTACAGCAAT c.1740
A P W T Q H S K D I M Q T L S R Y Y S N p.580
. | 16 . . . . . g.90751
GCTTTTTCAG | ATGCCGATAGACAAGATTCCATTAATCTCTTCCTGGGAGTTTTCCATCCC c.1800
A F S D | A D R Q D S I N L F L G V F H P p.600
. . . . . . g.90811
ACTGAAGGGAAACCTCATCTCTGGGAGCTCCCAACAGATTTTTATTTGCATCACAAAAAT c.1860
T E G K P H L W E L P T D F Y L H H K N p.620
. . | 17 . . . g.98780
ACCATGAGACTTTTGCCAACAAGAAGAAG | TTATACTTACTGGTGGACACCAGAGGTGATA c.1920
T M R L L P T R R S | Y T Y W W T P E V I p.640
. . | 18 . . . g.100113
AAGCATTTACCATTGCCCTATGATGAAG | TTATCTGTGCTGTGAACTTAAAGAAGTTGATA c.1980
K H L P L P Y D E V | I C A V N L K K L I p.660
. . . . . . g.100173
GTGAAGAAATTCCACAAATATGAAGAAGAGATTGATATCCACAATGAGTTCTTTCGGCCA c.2040
V K K F H K Y E E E I D I H N E F F R P p.680
. . . . . | 19 . g.103377
TATGAGTTGAGCAGCTTTGATGATACCTTTTGCTTGGCTATGACAAGCTCAGCACG | TGAC c.2100
Y E L S S F D D T F C L A M T S S A R | D p.700
. . . . . . g.103437
TTTATGCCTAAGACCGTTGGAATTGATCCAAGTCCATTTACTGTGCGTAAACCAGATGAA c.2160
F M P K T V G I D P S P F T V R K P D E p.720
. . | 20 . . . . g.105195
ACTGGAAAATCAGTATTGGG | AAACAAAAGCAATAGAGAAGAAGCTGTATTACAGCGGAAA c.2220
T G K S V L G | N K S N R E E A V L Q R K p.740
. . . . . . g.105255
ACGGCAGCCAGCGCCCCGCCGCCCCCCAGCGAGGAGGCTGTGTCCAGCAGCTCTGAGGAT c.2280
T A A S A P P P P S E E A V S S S S E D p.760
. . . . . . g.105315
GACTCTGGGACTGATCGGGAAGAAGAGGGCTCTGTGTCTCAGCGCTCCACTCCCGTGAAG c.2340
D S G T D R E E E G S V S Q R S T P V K p.780
. . . | 21 . . . g.106385
ATGACTGATGCAGGAGACAGTGCCAAAGTGACCGAG | AATGTGGTCCAACCCATGAAGGAG c.2400
M T D A G D S A K V T E | N V V Q P M K E p.800
. . . . . | 22 g.110545
CTATATGGAATTAACCTCTCAGATGGCCTCTCAGAAGAAGATTTCTCCATTTATTCAAG | A c.2460
L Y G I N L S D G L S E E D F S I Y S R | p.820
. . . . . . g.110605
TTTGTTCAGCTGGGGCAGAGTCAACATAAACAAGACAAGAATAGCCAGCAGCCCTGTTCT c.2520
F V Q L G Q S Q H K Q D K N S Q Q P C S p.840
. . | 23 . . . . g.138901
AGGTGCTCAGATGGAGTTATAAAACT | AACACCCATCTCGGCTTTCTCGCAAGATAACATC c.2580
R C S D G V I K L | T P I S A F S Q D N I p.860
. . . . . . g.138961
TATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCTACAGAGATCTTCCAAGCCCACATC c.2640
Y E V Q P P R V D R K S T E I F Q A H I p.880
. . . . . . g.139021
CAGGCCAGCCAAGGTATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAG c.2700
Q A S Q G I M Q P L G K E D S S M Y R E p.900
. . g.139045
TACATCAGGAACCGCTACCTGTGA c.2724
Y I R N R Y L X p.907
. . . . . . g.139105
aaagagcgcaggtccacctggtggacacgtctgattagcttagaacctgtcttgtctcat c.*60
. . . . . . g.139165
cttcaaaaggtaacttattaaaagtcctttgcgtctgaagcctttctccttttctgtcac c.*120
. . . . g.139211
ttgcaaattccaaattatagctaataaagatgactagataatttgc c.*166
(downstream sequence)
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