(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000508.3 in the FGA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008832.1, covering FGA transcript NM_000508.3.
(upstream sequence)
. . . . . g.5058
agcaatcctttctttcagctggagtgctcctcaggagccagccccacccttagaaaag c.-1
. . . . . | 02 . g.6189
ATGTTTTCCATGAGGATCGTCTGCCTGGTCCTAAGTGTGGTGGGCACAGCATGG | ACTGCA c.60
M F S M R I V C L V L S V V G T A W | T A p.20
. . . . . . g.6249
GATAGTGGTGAAGGTGACTTTCTAGCTGAAGGAGGAGGCGTGCGTGGCCCAAGGGTTGTG c.120
D S G E G D F L A E G G G V R G P R V V p.40
. . . . . . g.6309
GAAAGACATCAATCTGCCTGCAAAGATTCAGACTGGCCCTTCTGCTCTGATGAAGACTGG c.180
E R H Q S A C K D S D W P F C S D E D W p.60
| 03 . . . . . . g.6829
| AACTACAAATGCCCTTCTGGCTGCAGGATGAAAGGGTTGATTGATGAAGTCAATCAAGAT c.240
| N Y K C P S G C R M K G L I D E V N Q D p.80
. . . . . . g.6889
TTTACAAACAGAATAAATAAGCTCAAAAATTCACTATTTGAATATCAGAAGAACAATAAG c.300
F T N R I N K L K N S L F E Y Q K N N K p.100
. . . . . . g.6949
GATTCTCATTCGTTGACCACTAATATAATGGAAATTTTGAGAGGCGATTTTTCCTCAGCC c.360
D S H S L T T N I M E I L R G D F S S A p.120
| 04 . . . . . . g.8144
AATA | ACCGTGATAATACCTACAACCGAGTGTCAGAGGATCTGAGAAGCAGAATTGAAGTC c.420
N N | R D N T Y N R V S E D L R S R I E V p.140
. . . . . . g.8204
CTGAAGCGCAAAGTCATAGAAAAAGTACAGCATATCCAGCTTCTGCAGAAAAATGTTAGA c.480
L K R K V I E K V Q H I Q L L Q K N V R p.160
. . . | 05 . . . g.8857
GCTCAGTTGGTTGATATGAAACGACTGGAG | GTGGACATTGATATTAAGATCCGATCTTGT c.540
A Q L V D M K R L E | V D I D I K I R S C p.180
. . . . . . g.8917
CGAGGGTCATGCAGTAGGGCTTTAGCTCGTGAAGTAGATCTGAAGGACTATGAAGATCAG c.600
R G S C S R A L A R E V D L K D Y E D Q p.200
. . . . . . g.8977
CAGAAGCAACTTGAACAGGTCATTGCCAAAGACTTACTTCCCTCTAGAGATAGGCAACAC c.660
Q K Q L E Q V I A K D L L P S R D R Q H p.220
. . . . . . g.9037
TTACCACTGATAAAAATGAAACCAGTTCCAGACTTGGTTCCCGGAAATTTTAAGAGCCAG c.720
L P L I K M K P V P D L V P G N F K S Q p.240
. . . . . . g.9097
CTTCAGAAGGTACCCCCAGAGTGGAAGGCATTAACAGACATGCCGCAGATGAGAATGGAG c.780
L Q K V P P E W K A L T D M P Q M R M E p.260
. . . . . . g.9157
TTAGAGAGACCTGGTGGAAATGAGATTACTCGAGGAGGCTCCACCTCTTATGGAACCGGA c.840
L E R P G G N E I T R G G S T S Y G T G p.280
. . . . . . g.9217
TCAGAGACGGAAAGCCCCAGGAACCCTAGCAGTGCTGGAAGCTGGAACTCTGGGAGCTCT c.900
S E T E S P R N P S S A G S W N S G S S p.300
. . . . . . g.9277
GGACCTGGAAGTACTGGAAACCGAAACCCTGGGAGCTCTGGGACTGGAGGGACTGCAACC c.960
G P G S T G N R N P G S S G T G G T A T p.320
. . . . . . g.9337
TGGAAACCTGGGAGCTCTGGACCTGGAAGTACTGGAAGCTGGAACTCTGGGAGCTCTGGA c.1020
W K P G S S G P G S T G S W N S G S S G p.340
. . . . . . g.9397
ACTGGAAGTACTGGAAACCAAAACCCTGGGAGCCCTAGACCTGGTAGTACCGGAACCTGG c.1080
T G S T G N Q N P G S P R P G S T G T W p.360
. . . . . . g.9457
AATCCTGGCAGCTCTGAACGCGGAAGTGCTGGGCACTGGACCTCTGAGAGCTCTGTATCT c.1140
N P G S S E R G S A G H W T S E S S V S p.380
. . . . . . g.9517
GGTAGTACTGGACAATGGCACTCTGAATCTGGAAGTTTTAGGCCAGATAGCCCAGGCTCT c.1200
G S T G Q W H S E S G S F R P D S P G S p.400
. . . . . . g.9577
GGGAACGCGAGGCCTAACAACCCAGACTGGGGCACATTTGAAGAGGTGTCAGGAAATGTA c.1260
G N A R P N N P D W G T F E E V S G N V p.420
. . . . . . g.9637
AGTCCAGGGACAAGGAGAGAGTACCACACAGAAAAACTGGTCACTTCTAAAGGAGATAAA c.1320
S P G T R R E Y H T E K L V T S K G D K p.440
. . . . . . g.9697
GAGCTCAGGACTGGTAAAGAGAAGGTCACCTCTGGTAGCACAACCACCACGCGTCGTTCA c.1380
E L R T G K E K V T S G S T T T T R R S p.460
. . . . . . g.9757
TGCTCTAAAACCGTTACTAAGACTGTTATTGGTCCTGATGGTCACAAAGAAGTTACCAAA c.1440
C S K T V T K T V I G P D G H K E V T K p.480
. . . . . . g.9817
GAAGTGGTGACCTCCGAAGATGGTTCTGACTGTCCCGAGGCAATGGATTTAGGCACATTG c.1500
E V V T S E D G S D C P E A M D L G T L p.500
. . . . . . g.9877
TCTGGCATAGGTACTCTGGATGGGTTCCGCCATAGGCACCCTGATGAAGCTGCCTTCTTC c.1560
S G I G T L D G F R H R H P D E A A F F p.520
. . . . . . g.9937
GACACTGCCTCAACTGGAAAAACATTCCCAGGTTTCTTCTCACCTATGTTAGGAGAGTTT c.1620
D T A S T G K T F P G F F S P M L G E F p.540
. . . . . . g.9997
GTCAGTGAGACTGAGTCTAGGGGCTCAGAATCTGGCATCTTCACAAATACAAAGGAATCC c.1680
V S E T E S R G S E S G I F T N T K E S p.560
. . . . . . g.10057
AGTTCTCATCACCCTGGGATAGCTGAATTCCCTTCCCGTGGTAAATCTTCAAGTTACAGC c.1740
S S H H P G I A E F P S R G K S S S Y S p.580
. . . . . . g.10117
AAACAATTTACTAGTAGCACGAGTTACAACAGAGGAGACTCCACATTTGAAAGCAAGAGC c.1800
K Q F T S S T S Y N R G D S T F E S K S p.600
. . . . . . g.10177
TATAAAATGGCAGATGAGGCCGGAAGTGAAGCCGATCATGAAGGAACACATAGCACCAAG c.1860
Y K M A D E A G S E A D H E G T H S T K p.620
. . . | 06 . . . g.10941
AGAGGCCATGCTAAATCTCGCCCTGTCAGAG | ACTGTGATGATGTCCTCCAAACACATCCT c.1920
R G H A K S R P V R D | C D D V L Q T H P p.640
. . . . . . g.11001
TCAGGTACCCAAAGTGGCATTTTCAATATCAAGCTACCGGGATCCAGTAAGATTTTTTCT c.1980
S G T Q S G I F N I K L P G S S K I F S p.660
. . . . . . g.11061
GTTTATTGCGATCAAGAGACCAGTTTGGGAGGATGGCTTTTGATCCAGCAAAGAATGGAT c.2040
V Y C D Q E T S L G G W L L I Q Q R M D p.680
. . . . . . g.11121
GGATCACTGAATTTTAACCGGACCTGGCAAGACTACAAGAGAGGTTTCGGCAGCCTGAAT c.2100
G S L N F N R T W Q D Y K R G F G S L N p.700
. . . . . . g.11181
GACGAGGGGGAAGGAGAATTCTGGCTAGGCAATGACTACCTCCACTTACTAACCCAAAGG c.2160
D E G E G E F W L G N D Y L H L L T Q R p.720
. . . . . . g.11241
GGCTCTGTTCTTAGGGTTGAATTAGAGGACTGGGCTGGGAATGAAGCTTATGCAGAATAT c.2220
G S V L R V E L E D W A G N E A Y A E Y p.740
. . . . . . g.11301
CACTTCCGGGTAGGCTCTGAGGCTGAAGGCTATGCCCTCCAAGTCTCCTCCTATGAAGGC c.2280
H F R V G S E A E G Y A L Q V S S Y E G p.760
. . . . . . g.11361
ACTGCGGGTGATGCTCTGATTGAGGGTTCCGTAGAGGAAGGGGCAGAGTACACCTCTCAC c.2340
T A G D A L I E G S V E E G A E Y T S H p.780
. . . . . . g.11421
AACAACATGCAGTTCAGCACCTTTGACAGGGATGCAGACCAGTGGGAAGAGAACTGTGCA c.2400
N N M Q F S T F D R D A D Q W E E N C A p.800
. . . . . . g.11481
GAAGTCTATGGGGGAGGCTGGTGGTATAATAACTGCCAAGCAGCCAATCTCAATGGAATC c.2460
E V Y G G G W W Y N N C Q A A N L N G I p.820
. . . . . . g.11541
TACTACCCTGGGGGCTCCTATGACCCAAGGAATAACAGTCCTTATGAGATTGAGAATGGA c.2520
Y Y P G G S Y D P R N N S P Y E I E N G p.840
. . . . . . g.11601
GTGGTCTGGGTTTCCTTTAGAGGGGCAGATTATTCCCTCAGGGCTGTTCGCATGAAAATT c.2580
V V W V S F R G A D Y S L R A V R M K I p.860
. . g.11622
AGGCCCCTTGTGACCCAATAG c.2601
R P L V T Q X p.866
. . . . . . g.11682
gctgaagaagtgggaatgggagcactctgtcttctttgctagagaagtggagagaaaata c.*60
. . . . . . g.11742
caaaaggtaaagcagttgagattctctacaacctaaaaaattcctaggtgctattttctt c.*120
. . . . . . g.11802
atcctttgtactgtagctaaatgtacctgagacatattagtctttgaaaaataaagttat c.*180
. . . . . . g.11862
gtaaggttttttttatctttaaatagctctgtgggttttaacatttttataaagatatac c.*240
. . . . . . g.11922
caagggccattcagtacatcaggaaagtggcagacagaagcttctctctgcaaccttgaa c.*300
. . . . . . g.11982
gactattggtttgagaacttctcttcccataccacccaaaatcataatgccattggaaag c.*360
. . . . . . g.12042
caaaaagttgttttatccatttgatttgaattgttttaagccaatattttaaggtaaaac c.*420
. . . . . . g.12102
tcactgaatctaaccatagctgacctttgtagtagaatttacaacttataattacaatgc c.*480
. . . . . . g.12162
acaatttataattacaatatgtatttatgtcttttgctatggagcaaatccaggaaggca c.*540
. . . . . . g.12222
agagaaacattctttcctaaatataaatgaaaatctatcctttaaactcttccactagac c.*600
. . . . . . g.12282
gttgtaatgcacacttatttttttcccaaggagtaaccaatttctttctaaaacacattt c.*660
. . . . . . g.12342
aaaattttaaaactatttatgaatattaaaaaaagacataattcacacattaataaacaa c.*720
. . . . . . g.12402
tctcccaagtattgatttaacttcatttttctaataatcataaactatattctgtgacat c.*780
. . . . . . g.12462
gctaattattattaaatgtaagtcgttagttcgaaagcctctcactaagtatgatctatg c.*840
. . . . . . g.12522
ctatattcaaaattcaacccatttactttggtcaatatttgatctaagttgcatctttaa c.*900
. . . . . . g.12582
tcctggtggtcttgccttctgatttttaatttgtatccttttctattaagatatatttgt c.*960
. . . g.12618
cattttctcttgaatatgtattaaaatatcccaagc c.*996
(downstream sequence)
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