(used for variant description)
(last modified February 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004463.2 in the FGD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008054.1, covering FGD1 transcript NM_004463.2.
(upstream sequence)
. g.5014
cagggctccttccc c.-721
. . . . . . g.5074
gcccgccgccgccgagacccaggctgaagctggggaggacggtggagcccggcccaggcc c.-661
. . . . . . g.5134
gttctcctgcccccgcggctggagcatcgtctgggactactggctgaaggcgagccccgc c.-601
. . . . . . g.5194
agcccaagcgcagcgcacacgcgcgcccccggccaccgccgttctctcttccctcccctc c.-541
. . . . . . g.5254
ctctcccctcccctctcctccgcccccggcctcggctgcggcgggaggaagaacgcttcc c.-481
. . . . . . g.5314
caaccagccaggagagcccagatctattcccattcggggagaaagaagagaccccgcact c.-421
. . . . . . g.5374
tggatccgaccgacttctcgccccggggccacggaagtggctcgccgtccaccggagagt c.-361
. . . . . . g.5434
ccccgccgagcgtagccctccaaccctcgcccaaccgcagccgcatagacagcgctcccc c.-301
. . . . . . g.5494
agcgggcccccggccccgccgagcccactccccgcgcggggccggggccggggccggcga c.-241
. . . . . . g.5554
tgcctggcacggcagcggcggtggccgcggctgctgctgctgctactgccaccgctgcca c.-181
. . . . . . g.5614
cggctgctggcccgggcccgggctgggggcttgagtctctgcagtggggctgagcccgca c.-121
. . . . . . g.5674
gtcccgccccccgatcctgaggccgctgctccgccgggcgccgggcctcctccgcccgcg c.-61
. . . . . . g.5734
cctccgccccaggagctggagccaagcggggagctcgggccccgcgcccaggcccggacc c.-1
. . . . . . g.5794
ATGCATGGCCACCGAGCCCCGGGGGGCGCCGGGCCTTCGGAGCCCGAACACCCGGCCACG c.60
M H G H R A P G G A G P S E P E H P A T p.20
. . . . . . g.5854
AACCCGCCGGGCGCCGCTCCGCCGGCCTGTGCCGACTCGGACCCTGGAGCCTCGGAACCC c.120
N P P G A A P P A C A D S D P G A S E P p.40
. . . . . . g.5914
GGACTGCTGGCGCGCAGGGGCTCAGGTTCGGCTCTTGGCGGCCCACTGGATCCCCAGTTT c.180
G L L A R R G S G S A L G G P L D P Q F p.60
. . . . . . g.5974
GTCGGACCCTCGGACACCAGCCTGGGCGCTGCTCCAGGCCACCGGGTCTTGCCCTGCGGT c.240
V G P S D T S L G A A P G H R V L P C G p.80
. . . . . . g.6034
CCCAGTCCACAGCACCACCGGGCCCTGCGCTTCTCTTACCACCTGGAGGGCTCGCAGCCT c.300
P S P Q H H R A L R F S Y H L E G S Q P p.100
| 02. . . . . . g.29732
CGGCCTG | GGCTGCACCAGGGAAACCGGATCCTGGTTAAAAGTTTGTCCCTTGACCCTGGC c.360
R P G | L H Q G N R I L V K S L S L D P G p.120
. . . . . . g.29792
CAAAGCCTAGAGCCTCATCCAGAAGGTCCCCAGCGGCTTCGCTCAGACCCAGGTCCCCCG c.420
Q S L E P H P E G P Q R L R S D P G P P p.140
. . . . . . g.29852
ACTGAAACCCCTAGCCAGCGTCCTTCACCACTGAAGCGGGCACCGGGCCCGAAGCCACAG c.480
T E T P S Q R P S P L K R A P G P K P Q p.160
| 03 . . . . . . g.30465
G | TGCCCCCAAAGCCCAGCTACCTGCAGATGCCCCGGATGCCCCCCCCACTGGAGCCCATC c.540
V | P P K P S Y L Q M P R M P P P L E P I p.180
. . . . . . g.30525
CCCCCTCCACCATCACGCCCACTGCCTGCCGACCCCCGAGTGGCCAAGGGCCTGGCTCCC c.600
P P P P S R P L P A D P R V A K G L A P p.200
. . . . . | 04 g.30710
AGGGCAGAGGCCAGCCCCAGTTCTGCAGCAGTATCCTCACTGATTGAGAAGTTTGAAAG | A c.660
R A E A S P S S A A V S S L I E K F E R | p.220
. . . . . . g.30770
GAGCCTGTGATTGTCGCCTCGGATAGACCAGTCCCTGGCCCCAGCCCAGGTCCCCCAGAG c.720
E P V I V A S D R P V P G P S P G P P E p.240
. . . . . . g.30830
CCAGTCATGTTGCCACAGCCAACCTCGCAGCCACCAGTGCCCCAGCTCCCCGAGGGTGAG c.780
P V M L P Q P T S Q P P V P Q L P E G E p.260
. . . . . . g.30890
GCCTCCCGCTGCCTGTTTCTGCTGGCTCCTGGGCCCCGGGACGGTGAGAAGGTGCCCAAC c.840
A S R C L F L L A P G P R D G E K V P N p.280
. . . . . . g.30950
CGGGACAGCGGCATTGATAGCATCAGCTCGCCATCCAACAGCGAGGAGACCTGCTTCGTC c.900
R D S G I D S I S S P S N S E E T C F V p.300
. . . . . . g.31010
AGTGATGACGGGCCCCCCAGCCACAGCCTCTGCCCTGGGCCCCCTGCCCTGGCTAGTGTG c.960
S D D G P P S H S L C P G P P A L A S V p.320
. . . . . . g.31070
CCTGTTGCCTTGGCCGACCCCCACCGGCCTGGCTCCCAAGAGGTTGACAGTGACCTGGAG c.1020
P V A L A D P H R P G S Q E V D S D L E p.340
. . . . . . g.31130
GAGGAGGACGACGAGGAGGAGGAGGAAGAGAAGGACAGAGAAATCCCAGTGCCCCTGATG c.1080
E E D D E E E E E E K D R E I P V P L M p.360
. . | 05 . . . . g.32329
GAGAGACAGGAGTCTGTGGAG | TTGACTGTGCAGCAAAAGGTGTTTCACATTGCCAATGAG c.1140
E R Q E S V E | L T V Q Q K V F H I A N E p.380
. . . . . | 06 . g.33243
CTCCTGCAAACTGAGAAGGCCTACGTTTCCAGGCTCCATCTCCTGGATCAG | GTGTTCTGT c.1200
L L Q T E K A Y V S R L H L L D Q | V F C p.400
. . . . . . g.33303
GCCCGGCTGCTGGAAGAAGCTCGGAACCGCAGTTCCTTCCCGGCCGACGTTGTCCACGGC c.1260
A R L L E E A R N R S S F P A D V V H G p.420
. . . . . . g.33363
ATCTTCTCTAACATCTGCTCCATCTATTGCTTCCACCAGCAGTTCCTGCTGCCTGAGCTA c.1320
I F S N I C S I Y C F H Q Q F L L P E L p.440
. . | 07 . . . . g.35354
GAGAAGCGCATGGAGGAATG | GGACCGCTATCCACGCATTGGAGACATCCTGCAGAAACTG c.1380
E K R M E E W | D R Y P R I G D I L Q K L p.460
. . . . . . g.35414
GCCCCCTTCCTCAAGATGTATGGTGAGTATGTGAAGAACTTTGACCGGGCCGTGGAGCTG c.1440
A P F L K M Y G E Y V K N F D R A V E L p.480
. . . . . | 08. g.35580
GTCAACACCTGGACAGAGCGCTCCACCCAGTTTAAAGTCATCATCCATGAGGTGCAG | AAG c.1500
V N T W T E R S T Q F K V I I H E V Q | K p.500
. . . . . . g.35640
GAGGAAGCCTGTGGCAACCTGACATTGCAGCACCACATGCTGGAGCCTGTGCAGCGCATC c.1560
E E A C G N L T L Q H H M L E P V Q R I p.520
. . . . . . g.35700
CCCCGCTATGAGCTTCTTCTCAAGGACTATCTGTTAAAGCTGCCCCATGGCTCCCCGGAC c.1620
P R Y E L L L K D Y L L K L P H G S P D p.540
. | 09 . . . . . g.44643
AGCAAGGATGCCCAAA | AGTCTCTGGAGCTGATCGCCACAGCAGCAGAGCACTCGAATGCT c.1680
S K D A Q K | S L E L I A T A A E H S N A p.560
. | 10 . . . . . g.44845
GCCATCCGCAAAATG | GAGCGAATGCATAAGCTGCTGAAGGTATATGAGCTGTTAGGGGGC c.1740
A I R K M | E R M H K L L K V Y E L L G G p.580
. . . . . . g.44905
GAGGAGGACATTGTCAGCCCCACCAAAGAGCTCATAAAAGAAGGCCACATCCTTAAGCTG c.1800
E E D I V S P T K E L I K E G H I L K L p.600
. . . . | 11 . . g.45400
TCAGCAAAGAATGGGACCACTCAAGACCGATACCTCATACTA | TTCAACGACCGCCTCCTT c.1860
S A K N G T T Q D R Y L I L | F N D R L L p.620
. . . . . . g.45460
TACTGCGTGCCCAGGCTGCGGCTCCTTGGCCAGAAGTTTAGCGTGCGGGCACGCATTGAT c.1920
Y C V P R L R L L G Q K F S V R A R I D p.640
. | 12 . . . . . g.45684
GTAGATGGCATGGAG | CTAAAGGAGAGCTCCAACCTCAATCTGCCTCGAACCTTCCTGGTG c.1980
V D G M E | L K E S S N L N L P R T F L V p.660
. . . | 13 . . . g.50890
TCAGGAAAGCAGCGCTCCCTCGAGCTCCAGGCCAG | GACTGAGGAGGAGAAGAAAGACTGG c.2040
S G K Q R S L E L Q A R | T E E E K K D W p.680
| 14 . . . . . . g.51460
GTCCAG | GCCATCAACTCCACCCTCCTGAAGCATGAACAGACGCTGGAGACTTTCAAACTG c.2100
V Q | A I N S T L L K H E Q T L E T F K L p.700
. . . . | 15 . g.51910
TTGAACTCAACAAACAGGGAAGATGAAGACACCCCACCCAACTCTCCA | AACGTGGATCTT c.2160
L N S T N R E D E D T P P N S P | N V D L p.720
. . . . . . g.51970
GGGAAGCGGGCACCTACGCCCATCCGGGAAAAGGAAGTCACCATGTGCATGCGCTGCCAG c.2220
G K R A P T P I R E K E V T M C M R C Q p.740
. . . . . | 16 . g.52205
GAGCCCTTCAATTCTATCACCAAACGCAGGCACCACTGCAAGGCCTGCGGGCAT | GTGGTT c.2280
E P F N S I T K R R H H C K A C G H | V V p.760
. . . . . . g.52265
TGTGGGAAGTGCTCCGAGTTCCGGGCCCGCCTCGTCTATGACAACAACCGCTCCAACCGT c.2340
C G K C S E F R A R L V Y D N N R S N R p.780
. . . . . . g.52325
GTGTGCACTGATTGCTATGTGGCCTTGCACGGGGTGCCTGGGAGCAGTCCAGCCTGCAGC c.2400
V C T D C Y V A L H G V P G S S P A C S p.800
. . . | 17 . . . g.53736
CAGCATACACCCCAGCGCCGGAGGTCCATCCTGGAG | AAACAGGCCTCAGTGGCTGCAGAG c.2460
Q H T P Q R R R S I L E | K Q A S V A A E p.820
. . . . . . g.53796
AACAGCGTCATCTGCAGCTTCCTGCACTACATGGAGAAGGGTGGCAAAGGATGGCACAAG c.2520
N S V I C S F L H Y M E K G G K G W H K p.840
. . . . . . g.53856
GCATGGTTCGTGGTCCCTGAAAATGAACCCTTGGTGCTGTATATCTACGGAGCCCCTCAG c.2580
A W F V V P E N E P L V L Y I Y G A P Q p.860
| 18 . . . . . . g.54812
| GATGTGAAAGCCCAGCGCAGCCTGCCCCTCATTGGCTTCGAGGTGGGACCGCCCGAGGCA c.2640
| D V K A Q R S L P L I G F E V G P P E A p.880
. . . . . . g.54872
GGGGAGCGGCCTGACAGAAGGCATGTCTTCAAGATCACCCAGAGCCACCTCAGCTGGTAC c.2700
G E R P D R R H V F K I T Q S H L S W Y p.900
. . . . . . g.54932
TTCAGCCCTGAGACAGAGGAACTACAGCGACGCTGGATGGCTGTGCTTGGCCGGGCGGGC c.2760
F S P E T E E L Q R R W M A V L G R A G p.920
. . . . . . g.54992
CGAGGGGACACGTTCTGCCCGGGGCCCACACTGTCTGAGGACAGGGAGATGGAGGAGGCA c.2820
R G D T F C P G P T L S E D R E M E E A p.940
. . . . . . g.55052
CCGGTGGCTGCTTTAGGAGCCACTGCTGAACCCCCCGAATCCCCCCAGACCCGAGACAAG c.2880
P V A A L G A T A E P P E S P Q T R D K p.960
g.55058
ACCTAG c.2886
T X p.961
. . . . . . g.55118
agggtttgggacaaactgggagcccccaccccacactctagttgcccatgtctgattggg c.*60
. . . . . . g.55178
ggctctagccccttccctcccagctcagtcaatacttgaactcccatcacgggcactttc c.*120
. . . . . . g.55238
aatcccgaatgctgggtcttgggttttttaattcatcttttcacaaaacgtgggctttta c.*180
. . . . . . g.55298
aaaaatatattcctacagtgatgtcaatttttattaatccctgtccccagggagggtggg c.*240
. . . . . . g.55358
agccgttgccagtcctacctgaattaggtcgtttttctccctcatccctcaataccctac c.*300
. . . . . . g.55418
cacagatcctgcctccacccagttccccacaaagcaccagaggtaggagacctggattca c.*360
. . . . . . g.55478
agtgccagctctgccactgaccctggggccccgacccagccctgcctcctcagccagtgt c.*420
. . . . . . g.55538
cttcacacgtacaactccacgtggggtggcaactagacctctcctgcctctcccatggct c.*480
. . . . . . g.55598
tacagcttctacccggccccaaggctacccagtattttatcgtccagacccatggcaggg c.*540
. . . . . . g.55658
ccagcgggcaggacagggaaacaggggggaggacaatggatactcagttttttgtgtttt c.*600
. . . . . g.55713
tttgtgtgtttttttttttttaagaaaaatacagtttatttcaggcttacagtaa c.*655
(downstream sequence)
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