(used for variant description)
(last modified April 19, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_025207.4 in the FLAD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042310.1, covering FLAD1 transcript NM_025207.4.
(upstream sequence)
. . . . g.5041
ttcaatgtcagctaggtgcaaggcgggactttaagtacgga c.-361
. . . . . . g.5101
agctgccccgggacatgaggaaaggaacaagggaaagagccggtgaaggggcagaacagg c.-301
. . . . . . g.5161
caggtgagagtctaagagggctcagtaatctgaagcttggtgggaagaagggattctggg c.-241
. . . . . . g.5221
ctagaaagggtgcagaagcctgaagtagaaagagacgggattttggtccggggtggagag c.-181
. . . . . . g.5281
cgaatgcattgaaaagggccaaggcccaggataaggtagacatttaaaggggtacggatg c.-121
. . . . . . g.5341
cccaaggtagagcagacacttgaggagaccagctcagcaaacggaagacacttaaagtgg c.-61
. . . . . . g.5401
taggttctcaagagagaagaagtttttaagactagagctaagcaagacatttaaaaggac c.-1
. . . . . . g.5461
ATGGGTTGGGATTTGGGAACACGTTTATTCCAGAGGCAGGAACAAAGGAGTCGCTTGTCA c.60
M G W D L G T R L F Q R Q E Q R S R L S p.20
. . . . . . g.5521
AGGATCTGGTTAGAGAAGACTAGGGTCTTCCTCGAAGGAAGCACGCGCACGCCTGCTCTC c.120
R I W L E K T R V F L E G S T R T P A L p.40
. . . . . . g.5581
CCCCATTGTCTTTTCTGGCTTCTCCAGGTTCCCTCGACCCAGGACCCCCTGTTCCCAGGC c.180
P H C L F W L L Q V P S T Q D P L F P G p.60
. . . . . . g.5641
TATGGCCCCCAGTGCCCTGTAGACCTGGCAGGCCCCCCGTGCTTGCGACCCCTATTTGGG c.240
Y G P Q C P V D L A G P P C L R P L F G p.80
. . . . . . g.5701
GGTCTGGGTGGCTACTGGAGGGCCTTGCAGAGGGGCAGAGAAGGCAGGACCATGACATCT c.300
G L G G Y W R A L Q R G R E G R T M T S p.100
. . . . . . g.5761
AGGGCCTCTGAACTTTCTCCGGGGCGCAGCGTGACGGCTGGCATCATCATTGTTGGAGAT c.360
R A S E L S P G R S V T A G I I I V G D p.120
. | 02 . . . . . g.9859
GAGATCCTTAAG | GGACACACTCAGGACACCAACACCTTCTTTCTGTGCCGGACACTGCGC c.420
E I L K | G H T Q D T N T F F L C R T L R p.140
. . . . . . g.9919
TCCCTAGGGGTCCAGGTTTGCCGAGTCTCAGTTGTACCTGATGAGGTAGCCACCATTGCA c.480
S L G V Q V C R V S V V P D E V A T I A p.160
. . . . . . g.9979
GCTGAGGTCACTTCTTTCTCCAACCGCTTCACCCATGTCCTCACAGCAGGGGGCATCGGC c.540
A E V T S F S N R F T H V L T A G G I G p.180
. . . . . . g.10039
CCCACTCATGATGATGTGACCTTTGAGGCAGTGGCACAGGCCTTTGGAGATGAGCTGAAG c.600
P T H D D V T F E A V A Q A F G D E L K p.200
. . . . . . g.10099
CCACACCCCAAGTTGGAAGCAGCCACCAAAGCCCTAGGAGGGGAAGGCTGGGAGAAGCTA c.660
P H P K L E A A T K A L G G E G W E K L p.220
. . . . . . g.10159
TCATTGGTGCCCTCCTCTGCCCGCCTGCATTATGGCACAGATCCTTGCACTGGTCAACCT c.720
S L V P S S A R L H Y G T D P C T G Q P p.240
. . . . . . g.10219
TTCAGATTCCCTCTGGTCTCCGTCCGAAACGTCTACCTCTTCCCAGGCATTCCAGAGCTG c.780
F R F P L V S V R N V Y L F P G I P E L p.260
. . . . . . g.10279
CTGCGGCGGGTGCTGGAGGGGATGAAGGGACTATTCCAAAACCCAGCTGTTCAGTTCCAC c.840
L R R V L E G M K G L F Q N P A V Q F H p.280
. . . . . . g.10339
TCAAAGGAGCTATATGTGGCTGCTGATGAAGCCTCCATCGCCCCCATTCTGGCTGAGGCC c.900
S K E L Y V A A D E A S I A P I L A E A p.300
. . . . . . g.10399
CAGGCCCACTTTGGACGTAGGCTTGGCCTGGGTTCCTACCCTGACTGGGGCAGCAACTAC c.960
Q A H F G R R L G L G S Y P D W G S N Y p.320
. . . . . . g.10459
TATCAGGTGAAGCTGACTCTAGACTCAGAGGAAGAAGGACCCCTGGAGGAATGCTTGGCC c.1020
Y Q V K L T L D S E E E G P L E E C L A p.340
. . . . . . g.10519
TACCTGACTGCCCGTTTGCCCCAGGGATCGCTGGTCCCCTACATGCCCAACGCTGTGGAG c.1080
Y L T A R L P Q G S L V P Y M P N A V E p.360
. . . | 03. . . g.11289
CAGGCCAGTGAGGCTGTATACAAACTCGCTGAATCAG | GGTCTTCTTTGGGGAAAAAGGTG c.1140
Q A S E A V Y K L A E S G | S S L G K K V p.380
. . . . . . g.11349
GCAGGTGCCCTACAGACCATTGAGACCTCCCTGGCTCAGTACAGCCTCACCCAGCTCTGT c.1200
A G A L Q T I E T S L A Q Y S L T Q L C p.400
. . . . . . g.11409
GTGGGCTTCAACGGGGGCAAAGACTGCACTGCCCTCCTGCACCTCTTCCATGCAGCTGTG c.1260
V G F N G G K D C T A L L H L F H A A V p.420
| 04 . . . . . . g.11920
CAGAG | GAAATTACCTGATGTTCCAAACCCCCTCCAGATCCTGTATATCCGCAGCATCTCC c.1320
Q R | K L P D V P N P L Q I L Y I R S I S p.440
. . . . | 05 . . g.12061
CCTTTCCCTGAGCTGGAACAGTTTCTACAGGACACTATCAAGAG | GTATAATCTGCAGATG c.1380
P F P E L E Q F L Q D T I K R | Y N L Q M p.460
. . . . . . g.12121
TTGGAAGCTGAGGGCAGCATGAAGCAGGCCCTGGGTGAACTGCAGGCACGGCACCCCCAG c.1440
L E A E G S M K Q A L G E L Q A R H P Q p.480
. . . . . . g.12181
CTGGAGGCTGTCCTTATGGGCACCCGCCGGACTGACCCCTACTCCTGTAGCCTCTGCCCT c.1500
L E A V L M G T R R T D P Y S C S L C P p.500
. . . . . | 06 . g.14425
TTCAGCCCCACTGACCCAGGCTGGCCCGCATTCATGCGCATCAACCCACTGCTG | GACTGG c.1560
F S P T D P G W P A F M R I N P L L | D W p.520
. . . . . . g.14485
ACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTAT c.1620
T Y R D I W D F L R Q L F V P Y C I L Y p.540
| 07 . . . . . g.14660
GACCGAGG | ATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAG c.1680
D R G | Y T S L G S R E N T V R N P A L K p.560
. . . . . . g.14720
TGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAA c.1740
C L S P G G H P T Y R P A Y L L E N E E p.580
. . g.14744
GAGGAGCGGAACTCCCGCACATGA c.1764
E E R N S R T X p.587
. . . . . . g.14804
cctcccaccctaggagggagggaaggacaccgtcctagggtataacctggcaataaaccg c.*60
. g.14818
tgcctctcactgtg c.*74
(downstream sequence)
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