(used for variant description)
(last modified March 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002021.1 in the FMO1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FMO1 transcript NM_002021.1.
(upstream sequence)
. . . g.5037
cccaagccagcactggctcatactgattcattttgat c.-61
. . . . . . | 02 g.14564
ctctgctaataccagagtcctgcgtggcagagccattggcaccagaaattacaa | gagaac c.-1
. . . . . . g.14624
ATGGCCAAGCGAGTTGCCATTGTGGGAGCTGGGGTCAGCGGCCTGGCCTCCATCAAGTGC c.60
M A K R V A I V G A G V S G L A S I K C p.20
. . . . . . g.14684
TGTCTGGAAGAAGGACTGGAGCCCACCTGCTTTGAGAGGAGCGATGACCTTGGGGGGCTG c.120
C L E E G L E P T C F E R S D D L G G L p.40
. | 03 . . . . . g.24067
TGGAGATTCACC | GAACATGTTGAAGAAGGCAGAGCCAGTCTCTACAAGTCTGTGGTTTCC c.180
W R F T | E H V E E G R A S L Y K S V V S p.60
. . . . . . g.24127
AACAGCTGCAAGGAGATGTCTTGTTACTCAGACTTTCCATTCCCAGAAGATTATCCAAAC c.240
N S C K E M S C Y S D F P F P E D Y P N p.80
. . . . . . g.24187
TATGTGCCAAATTCTCAATTCCTGGAATATCTCAAAATGTATGCAAACCACTTTGACCTT c.300
Y V P N S Q F L E Y L K M Y A N H F D L p.100
. . | 04 . . . . g.31861
CTGAAACACATTCAATTCAAG | ACCAAAGTCTGCAGTGTAACAAAATGCTCAGATTCTGCT c.360
L K H I Q F K | T K V C S V T K C S D S A p.120
. . . . . . g.31921
GTCTCTGGCCAATGGGAGGTGGTCACTATGCATGAAGAGAAGCAAGAGTCAGCCATCTTT c.420
V S G Q W E V V T M H E E K Q E S A I F p.140
. . . . . . g.31981
GATGCTGTCATGGTCTGCACTGGCTTTCTTACTAATCCTTATTTGCCACTGGATTCCTTT c.480
D A V M V C T G F L T N P Y L P L D S F p.160
| 05 . . . . . . g.35261
CCAG | GTATTAATGCCTTTAAAGGCCAGTACTTTCATAGCCGGCAATATAAGCATCCAGAT c.540
P G | I N A F K G Q Y F H S R Q Y K H P D p.180
. . . . . . g.35321
ATATTTAAGGACAAGAGAGTCCTTGTGATTGGAATGGGAAATTCTGGCACAGACATTGCT c.600
I F K D K R V L V I G M G N S G T D I A p.200
. . | 06. . . . g.37295
GTGGAGGCCAGCCACCTGGCGGAAAAG | GTGTTCCTCAGCACCACCGGAGGGGGATGGGTG c.660
V E A S H L A E K | V F L S T T G G G W V p.220
. . . . . . g.37355
ATCAGCCGAATCTTTGACTCGGGCTACCCATGGGACATGGTGTTCATGACACGCTTTCAG c.720
I S R I F D S G Y P W D M V F M T R F Q p.240
. . . . . . g.37415
AACATGTTGAGAAATTCCCTCCCAACCCCAATTGTGACTTGGTTGATGGAGCGAAAGATA c.780
N M L R N S L P T P I V T W L M E R K I p.260
. . . . | 07. . g.38467
AACAACTGGCTCAATCATGCAAATTACGGCTTAATACCAGAAGACAG | GACTCAGCTGAAA c.840
N N W L N H A N Y G L I P E D R | T Q L K p.280
. . . . . . g.38527
GAGTTTGTGCTAAATGATGAGCTCCCAGGACGCATCATCACTGGGAAAGTGTTCATCAGG c.900
E F V L N D E L P G R I I T G K V F I R p.300
. . . . . . g.38587
CCAAGCATAAAAGAGGTAAAGGAAAACTCTGTCATATTTAACAATACTTCAAAGGAAGAG c.960
P S I K E V K E N S V I F N N T S K E E p.320
. . . . . . g.38647
CCTATTGACATCATTGTCTTTGCCACTGGATACACATTTGCTTTCCCCTTCCTTGATGAG c.1020
P I D I I V F A T G Y T F A F P F L D E p.340
. . . . . . g.38707
TCTGTAGTGAAAGTTGAAGATGGCCAGGCCTCACTGTACAAGTATATCTTCCCTGCACAT c.1080
S V V K V E D G Q A S L Y K Y I F P A H p.360
. . . . . . g.38767
CTGCAAAAGCCAACCCTGGCCATTATTGGCCTCATCAAACCCTTGGGCTCCATGATACCT c.1140
L Q K P T L A I I G L I K P L G S M I P p.380
. . . . | 08 . . g.39637
ACAGGAGAAACACAAGCTCGGTGGGCTGTTCGAGTCCTGAAAG | GTGTAAATAAGTTACCA c.1200
T G E T Q A R W A V R V L K G | V N K L P p.400
. . . . . | 09 . g.41682
CCACCAAGTGTCATGATAGAGGAAATTAATGCAAGGAAAGAAAACAAGCCCAGTTG | GTTT c.1260
P P S V M I E E I N A R K E N K P S W | F p.420
. . . . . . g.41742
GGCTTGTGCTACTGCAAGGCTTTACAATCAGATTATATCACATACATAGATGAACTCCTG c.1320
G L C Y C K A L Q S D Y I T Y I D E L L p.440
. . . . . . g.41802
ACCTATATCAATGCAAAACCCAACCTGTTCTCTATGCTCCTAACGGATCCACATCTGGCT c.1380
T Y I N A K P N L F S M L L T D P H L A p.460
. . . . . . g.41862
CTGACCGTCTTCTTTGGCCCATGCTCACCATACCAGTTCCGCTTGACTGGCCCAGGAAAA c.1440
L T V F F G P C S P Y Q F R L T G P G K p.480
. . . . . . g.41922
TGGGAAGGAGCCAGAAATGCCATCATGACCCAGTGGGACCGAACATTCAAGGTCATCAAA c.1500
W E G A R N A I M T Q W D R T F K V I K p.500
. . . . . . g.41982
GCTCGAGTTGTACAAGAGTCTCCATCTCCCTTTGAAAGTTTTCTTAAAGTCTTTAGCTTT c.1560
A R V V Q E S P S P F E S F L K V F S F p.520
. . . g.42021
CTGGCTTTGCTTGTGGCTATTTTTCTGATTTTCCTATAA c.1599
L A L L V A I F L I F L X p.532
. . . . . . g.42081
gtaaaagatctcctaaatggaagatgcacagagtagatttacaatgctccaattcctctc c.*60
. . . . . . g.42141
ttacagcaatattgccttcacagttataaactgtattcaaatagtaaaggccaccctctc c.*120
. . . . . . g.42201
gcttccctggctggccccagggctaccactggtattcctgagcctctcccagctccactt c.*180
. . . . . . g.42261
ctaatgctagagaatgataactaagacttctgtgcatttgaaggttgttggaaagttaca c.*240
. . . . . . g.42321
ggttcattttagaaagaaagctgttcttgacagcactctgagccatcatacctctttccc c.*300
. . . . . . g.42381
atataaactattttcacagatctcaactaaaaccccttacttcacaaatgattgtgttgt c.*360
. . . . . . g.42441
gctgaaatggtgctcttatagtactggcttattaaaagtaaaaaataaacctaaaaattg c.*420
. g.42451
attgttttaa c.*430
(downstream sequence)
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