(used for variant description)
(last modified February 1, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001002294.2 in the FMO3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FMO3 transcript NM_001002294.2.
(upstream sequence)
. . . . . g.5051
gtaggctcactagaacattttctctttcaaactgcccagacggttggacag c.-61
. . . . . . | 02 g.6782
gacgtagacacacagaagaaaagaagacaaagaacgggtaggaaaattaaaaag | gttacc c.-1
. . . . . . g.6842
ATGGGGAAGAAAGTGGCCATCATTGGAGCTGGTGTGAGTGGCTTGGCCTCCATCAGGAGC c.60
M G K K V A I I G A G V S G L A S I R S p.20
. . . . . . g.6902
TGTCTGGAAGAGGGGCTGGAGCCCACCTGCTTTGAGAAGAGCAATGACATTGGGGGCCTG c.120
C L E E G L E P T C F E K S N D I G G L p.40
. | 03 . . . . . g.17956
TGGAAATTTTCA | GACCATGCAGAGGAGGGCAGGGCTAGCATTTACAAATCAGTCTTTTCC c.180
W K F S | D H A E E G R A S I Y K S V F S p.60
. . . . . . g.18016
AACTCTTCCAAAGAGATGATGTGTTTCCCAGACTTCCCATTTCCCGATGACTTCCCCAAC c.240
N S S K E M M C F P D F P F P D D F P N p.80
. . . . . . g.18076
TTTATGCACAACAGCAAGATCCAGGAATATATCATTGCATTTGCCAAAGAAAAGAACCTC c.300
F M H N S K I Q E Y I I A F A K E K N L p.100
. . | 04 . . . . g.21837
CTGAAGTACATACAATTTAAG | ACATTTGTATCCAGTGTAAATAAACATCCTGATTTTGCA c.360
L K Y I Q F K | T F V S S V N K H P D F A p.120
. . . . . . g.21897
ACTACTGGCCAGTGGGATGTTACCACTGAAAGGGATGGTAAAAAAGAATCGGCTGTCTTT c.420
T T G Q W D V T T E R D G K K E S A V F p.140
. . . . . . g.21957
GATGCTGTAATGGTTTGTTCCGGACATCATGTGTATCCCAACCTACCAAAAGAGTCCTTT c.480
D A V M V C S G H H V Y P N L P K E S F p.160
| 05 . . . . . . g.22258
CCAG | GACTAAACCACTTTAAAGGCAAATGCTTCCACAGCAGGGACTATAAAGAACCAGGT c.540
P G | L N H F K G K C F H S R D Y K E P G p.180
. . . . . . g.22318
GTATTCAATGGAAAGCGTGTCCTGGTGGTTGGCCTGGGGAATTCGGGCTGTGATATTGCC c.600
V F N G K R V L V V G L G N S G C D I A p.200
. . | 06. . . . g.24954
ACAGAACTCAGCCGCACAGCAGAACAG | GTCATGATCAGTTCCAGAAGTGGCTCCTGGGTG c.660
T E L S R T A E Q | V M I S S R S G S W V p.220
. . . . . . g.25014
ATGAGCCGGGTCTGGGACAATGGTTATCCTTGGGACATGCTGCTCGTCACTCGATTTGGA c.720
M S R V W D N G Y P W D M L L V T R F G p.240
. . . . . . g.25074
ACCTTCCTCAAGAACAATTTACCGACAGCCATCTCTGACTGGTTGTACGTGAAGCAGATG c.780
T F L K N N L P T A I S D W L Y V K Q M p.260
. . . . | 07. . g.28142
AATGCAAGATTCAAGCATGAAAACTATGGCTTGATGCCTTTAAATGG | AGTCCTGAGGAAA c.840
N A R F K H E N Y G L M P L N G | V L R K p.280
. . . . . . g.28202
GAGCCTGTATTTAACGATGAGCTCCCAGCAAGCATTCTGTGTGGCATTGTGTCCGTAAAG c.900
E P V F N D E L P A S I L C G I V S V K p.300
. . . . . . g.28262
CCTAACGTGAAGGAATTCACAGAGACCTCGGCCATTTTTGAGGATGGGACCATATTTGAG c.960
P N V K E F T E T S A I F E D G T I F E p.320
. . . . . . g.28322
GGCATTGACTGTGTAATCTTTGCAACAGGGTATAGTTTTGCCTACCCCTTCCTTGATGAG c.1020
G I D C V I F A T G Y S F A Y P F L D E p.340
. . . . . . g.28382
TCTATCATCAAAAGCAGAAACAATGAGATCATTTTATTTAAAGGAGTATTTCCTCCTCTA c.1080
S I I K S R N N E I I L F K G V F P P L p.360
. . . . . . g.28442
CTTGAGAAGTCAACCATAGCAGTGATTGGCTTTGTCCAGTCCCTTGGGGCTGCCATTCCC c.1140
L E K S T I A V I G F V Q S L G A A I P p.380
. . . . | 08 . . g.30347
ACAGTTGACCTCCAGTCCCGCTGGGCAGCACAAGTAATAAAGG | GAACTTGTACTTTGCCT c.1200
T V D L Q S R W A A Q V I K G | T C T L P p.400
. . . . . | 09 . g.31226
TCTATGGAAGACATGATGAATGATATTAATGAGAAAATGGAGAAAAAGCGCAAATG | GTTT c.1260
S M E D M M N D I N E K M E K K R K W | F p.420
. . . . . . g.31286
GGCAAAAGCGAGACCATACAGACAGATTACATTGTTTATATGGATGAACTCTCCTCCTTC c.1320
G K S E T I Q T D Y I V Y M D E L S S F p.440
. . . . . . g.31346
ATTGGGGCAAAGCCCAACATCCCATGGCTGTTTCTCACAGATCCCAAATTGGCCATGGAA c.1380
I G A K P N I P W L F L T D P K L A M E p.460
. . . . . . g.31406
GTTTATTTTGGCCCTTGTAGTCCCTACCAGTTTAGGCTGGTGGGCCCAGGGCAGTGGCCA c.1440
V Y F G P C S P Y Q F R L V G P G Q W P p.480
. . . . . . g.31466
GGAGCCAGAAATGCCATACTGACCCAGTGGGACCGGTCGTTGAAACCCATGCAGACACGA c.1500
G A R N A I L T Q W D R S L K P M Q T R p.500
. . . . . . g.31526
GTGGTCGGGAGACTTCAGAAGCCTTGCTTCTTTTTCCATTGGCTGAAGCTCTTTGCAATT c.1560
V V G R L Q K P C F F F H W L K L F A I p.520
. . . g.31565
CCTATTCTGTTAATCGCTGTTTTCCTTGTGTTGACCTAA c.1599
P I L L I A V F L V L T X p.532
. . . . . . g.31625
tcatcattttctctaggatttctgaaagttactgacaatacccagacaggggctttgcta c.*60
. . . . . . g.31685
tttaaaaattaaaattttcacaccacctgcttttctattcagcatcttttgcagtactct c.*120
. . . . . . g.31745
gtagacattagtcagtaatacagtgttatttctaggctctgaaatagccactttaagaat c.*180
. . . . . . g.31805
catgtcatgatcttaagagagcactaatcatttctgtttgagttccactaacacttcaaa c.*240
. . . . . . g.31865
atcagaactatgttctttatatctaacttaaatcatttcctgaaacattttgacatgatt c.*300
. . . . . . g.31925
cctttttccttttaaacaatgtatgaaagatgtattttaaatctaaataaagagcaaatt c.*360
. g.31942
aagcagaataattataa c.*377
(downstream sequence)
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