(used for variant description)
(last modified February 20, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_030793.4 in the FBXO38 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering FBXO38 transcript NM_030793.4.
(upstream sequence)
. . . . g.5000
atgcgagcggcggcggaagcggaagtgcctcagcggtaggggccgggg c.-121
. . . . . . | 02 g.15734
aagtgtctgtagcgtccctccctctcaaccacaataacaggcggagggtcggcgtag | gta c.-61
. . . . . . g.15794
ctttgaactcaagtaaacaaaagggaagattttctcgttgatactggagactgcacaaca c.-1
. . . . . . g.15854
ATGGGGCCACGAAAGAAAAGTGTGAAAACATGTATCATGAATAATGAAATTCCAGAAGAA c.60
M G P R K K S V K T C I M N N E I P E E p.20
. . . . . . g.15914
ATGACAGCAGATGAAACAAAGGACTATATGAATCAACTTTCACATGAAGTACTTTGCCAT c.120
M T A D E T K D Y M N Q L S H E V L C H p.40
| 03 . . . . . g.20068
ATTTTTAG | GTACCTCCCTCTGCAGGATATCATGTGTATGGAATGTCTTTCCCGGAAGCTA c.180
I F R | Y L P L Q D I M C M E C L S R K L p.60
. . . . . . g.20128
AAGGAAGCAGTGACCCTATATCTGCGAGTTGTGAGAGTTGTAGATCTCTGTGCAGGGCGG c.240
K E A V T L Y L R V V R V V D L C A G R p.80
. . | 04 . . . . g.23037
TGGTGGGAATACATGCCAAGTG | GCTTTACAGATGCCAGTTTTCTAACACTATTAAAGAAG c.300
W W E Y M P S G | F T D A S F L T L L K K p.100
. . . . . . g.23097
ATGCCAGATGTTGAACAGCTATATGGCCTTCACCCTCGATACCTTGAGAGGCGAAGAGTA c.360
M P D V E Q L Y G L H P R Y L E R R R V p.120
. . . . . . g.23157
AGGGGCCATGAGGCTTTTAGCATTCCAGGAGTCCTAGAAGCTTTGCAGGCATGCCCAAAC c.420
R G H E A F S I P G V L E A L Q A C P N p.140
| 05 . . . . . . g.23419
TTAGTG | GGTGTGGAAACTTCTCATTTGGAGTTGGTAGAATCCATTTGGACATATATGCCC c.480
L V | G V E T S H L E L V E S I W T Y M P p.160
. . . . . . g.23479
CATGTTCATATTTTGGGGAAATTTCGTAATCGTAATGGAGCTTTTCCAATTCCTCCTGAA c.540
H V H I L G K F R N R N G A F P I P P E p.180
. . . . . | 06 . g.25710
AATAAACTGAAAATTCCTATAGGAGCCAAAATTCAAACTTTACATTTAGTTG | GGGTGAAT c.600
N K L K I P I G A K I Q T L H L V G | V N p.200
. . . . . . g.25770
GTTCCTGAAATTCCTTGTATCCCAATGCTAAGGCACCTTTATATGAAGTGGGTAAGACTC c.660
V P E I P C I P M L R H L Y M K W V R L p.220
. . . . . . g.25830
ACTAAACCACAGCCATTTAAAGACTTCCTTTGTATCAGCTTAAGAACTTTCGTCATGAGG c.720
T K P Q P F K D F L C I S L R T F V M R p.240
. | 07 . . . . . g.27324
AACTGTGCAG | GACCCACAAATTCCTTGAAATATGTCCCTTTAGTAACAGGCTTAGCCTCT c.780
N C A G | P T N S L K Y V P L V T G L A S p.260
. . . . . . g.27384
GCCCGAAACTTGGAACACTTAGAAATGGTTCGAGTTCCTTTCCTTGGAGGTCTTATCCAA c.840
A R N L E H L E M V R V P F L G G L I Q p.280
. . | 08 . . . g.30173
CATGTTGTTGAAGACAGTTGGAGATCAG | GTGGTTTTAGAAATTTGCACACTATTGTTCTG c.900
H V V E D S W R S G | G F R N L H T I V L p.300
. . . . . . g.30233
GGAGCTTGCAAAAATGCTCTTGAAGTAGATCTTGGTTACCTCATCATTACTGCTGCCCGT c.960
G A C K N A L E V D L G Y L I I T A A R p.320
| 09 . . . . . . g.31710
AG | GTTACATGAAGTTCGGATCCAGCCTTCCCTAACCAAAGATGGTGTCTTTTCTGCCCTA c.1020
R | L H E V R I Q P S L T K D G V F S A L p.340
. . . . . . g.31770
AAGATGGCAGAGTTGGAGTTTCCCCAGTTTGAAACCCTTCATCTAGGATATGTAGATGAG c.1080
K M A E L E F P Q F E T L H L G Y V D E p.360
. | 10 . . . . . g.35200
TTTTTGCTACAGA | GCAGAATGGCTAATGCGGATCTGGTGAAGTATGGTTTGGCTGATGTG c.1140
F L L Q S | R M A N A D L V K Y G L A D V p.380
. . . . . . g.35260
GTAGAAAATCCTGGTATCATCACTGATATAGGGATGAAAGCAGTCAATGAAGTTTTTTCC c.1200
V E N P G I I T D I G M K A V N E V F S p.400
. . . . . . g.35320
TGTATCAAATATCTGGCAATTTACAATTGCCCTCATCTACACAACCCATACAATTGGATC c.1260
C I K Y L A I Y N C P H L H N P Y N W I p.420
| 11 . . . . . . g.37001
TCAG | ACCACTCAAGATGGACTCGATTGGTTGATATCAACCTAGTACGGTGCCATGCTTTG c.1320
S D | H S R W T R L V D I N L V R C H A L p.440
. . . . . . g.37061
AAGCTGGACTCTTTTGGCCAGTTTATTGAATTATTACCCAGCCTAGAGTTTATTTCACTG c.1380
K L D S F G Q F I E L L P S L E F I S L p.460
. . | 12. . . . g.38044
GATCAGATGTTTCGTGAACCACCCAAG | GGTTGTGCTCGAGTTGGTCTGAGTGCAGGCACA c.1440
D Q M F R E P P K | G C A R V G L S A G T p.480
. . . . . . g.38104
GGAATTGGTGTTTCATCAGCTCTTGTTAGCAACCAGAACTCCAACAATGACGATAATAAT c.1500
G I G V S S A L V S N Q N S N N D D N N p.500
. . . . . . g.38164
GCCCAGAATAACAATGCCAACATCCACGACAACAATCACCATCATCCAGATGACTCAGAC c.1560
A Q N N N A N I H D N N H H H P D D S D p.520
. . . . . | 13 g.45017
GAGGAGAATGACTTTCGGCAAGATCTGCAGCCAGGAGAGCAGCAGTTTGCAGCTGACG | CA c.1620
E E N D F R Q D L Q P G E Q Q F A A D A | p.540
. . . . . . g.45077
TTAAATGAGATGGAAGACATCGTCCAAGAAGATGGAGAGGTGGTGGCCGAGAGTGGAAAT c.1680
L N E M E D I V Q E D G E V V A E S G N p.560
. . . . . | 14 g.46541
AATACTCCAGCTCACAGCCAGGCAATTATTCCTGTGGATGTTGATGAGGAACAAGCAG | GA c.1740
N T P A H S Q A I I P V D V D E E Q A G | p.580
. . . . . . g.46601
CCCAGTGGTCTTCAGCGTGTAGTAAAACCAACCTCAATTACTGTTCATGATTCAGAGAGT c.1800
P S G L Q R V V K P T S I T V H D S E S p.600
. . . . . . g.46661
GATGATGAAGAAGATAGTCTAGAACTCCAAGAAGTCTGGATTCCTAAGAACGGTACTCGG c.1860
D D E E D S L E L Q E V W I P K N G T R p.620
. . . . . | 15 g.48232
CGTTACTCTGAACGTGAAGAAAAAACTGGAGAGTCAGTGCAGTCCAGAGAATTGTCAG | TA c.1920
R Y S E R E E K T G E S V Q S R E L S V | p.640
. . . . . . g.48292
AGTGGAAAAGGCAAGACTCCACTTCGAAAGAGGTACAACTCCCATCAGATGGGCCAGTCG c.1980
S G K G K T P L R K R Y N S H Q M G Q S p.660
. . . . . . g.48352
AAGCAGTTTCCCCTCGAGGAAAGCAGCTGTGAGAAAGGCTGTCAGGTCACCAGTGAGCAG c.2040
K Q F P L E E S S C E K G C Q V T S E Q p.680
. . . . . . g.48412
ATCAAAGCCGATATGAAAGCAGCTAGGGATATTCCTGAAAAGAAAAAAAACAAGGATGTT c.2100
I K A D M K A A R D I P E K K K N K D V p.700
. . . . . . g.48472
TATCCCAGCTGCAGCAGCACCACCGCCAGCACAGTGGGAAACTCCAGCTCACACAACACT c.2160
Y P S C S S T T A S T V G N S S S H N T p.720
. . . . . . g.48532
GCTTCTCAAAGCCCCGACTTTGTAAGGACGGTGAACAGCGGCGGCTCTTCCGAGCCTAGC c.2220
A S Q S P D F V R T V N S G G S S E P S p.740
. . . . . . g.48592
CCTACAGAAGTGGATGTGTCCAGGCAGTGTGCCTGCTCCCCCGGTGGGTCAGAGGACTCT c.2280
P T E V D V S R Q C A C S P G G S E D S p.760
. . . . . . g.48652
GAGGCCATGGAGGAGGGAGATGCAGAGAGTTCTGTCTGCCCCAGATGCTGCTGTCACAGG c.2340
E A M E E G D A E S S V C P R C C C H R p.780
. . . . . . g.48712
CCCCAGGAATCCCAAAGGAGAACTAGCAGGTGTTCTGATGAGGAACGTCCTTCAACCAGC c.2400
P Q E S Q R R T S R C S D E E R P S T S p.800
. . | 16 . . . g.54473
CGAGCCTGTGTTGTGAATGGCCCGGATG | AAGTAGCCAAAACAAAGCCACGTCACGCCATG c.2460
R A C V V N G P D E | V A K T K P R H A M p.820
. . . . . . g.54533
AAACGGAAGCGGACAGCAGATAAATCCACTAGTACAAGTGATCCTGTGATCGAGGATGAC c.2520
K R K R T A D K S T S T S D P V I E D D p.840
| 17 . . . . . g.54703
CATGTGCAG | GTTCTTGTATTAAAATCCAAGAATCTTGTTGGAGTCACTATGACCAATTGT c.2580
H V Q | V L V L K S K N L V G V T M T N C p.860
. . . . . | 18 . g.59357
GGAATCACAGATCTAGTGCTAAAAGACTGTCCAAAGATGATGTTCATCCATG | CTACCAGG c.2640
G I T D L V L K D C P K M M F I H A | T R p.880
. . . . . . g.59417
TGCAGGGTACTAAAACATTTAAAGGTAGAAAATGCACCAATTGTAAACCGATTTGACTAT c.2700
C R V L K H L K V E N A P I V N R F D Y p.900
. . . . . . g.59477
GCACAGTGCAAGAAACTGAACATGGATCAGGTACTAGACCAGATACTAAGAATGCCACCC c.2760
A Q C K K L N M D Q V L D Q I L R M P P p.920
. . . | 19 . . g.60685
GAGAGAAACCGCATCATATACCTACGCCCAATGCAGCAG | GTGGACACTCTAACTTTGGAG c.2820
E R N R I I Y L R P M Q Q | V D T L T L E p.940
. . . . . . g.60745
CAGAAGCTATTTAGTGGTCCCTACCCCTATCACATCTGTATTATCCATGAATTCAGTAAC c.2880
Q K L F S G P Y P Y H I C I I H E F S N p.960
. . . . . . g.60805
CCTCCCAATGTCCGGAATAAGGTGCGCATTCGCAGCTGGATGGACACTATAGCAAACATC c.2940
P P N V R N K V R I R S W M D T I A N I p.980
| 20 . . . . . . g.61496
AATCA | AGAGCTCATTAAATATGAATTCTTCCCTGAAGCCACTCGAAGTGAAGAAGACTTA c.3000
N Q | E L I K Y E F F P E A T R S E E D L p.1000
. . . . | 21 . g.62152
AAGAAATACCCCAAGTACCCCTGGGGGAGAGAAATCTATACTTTAGAAG | GTGTTGTGGAT c.3060
K K Y P K Y P W G R E I Y T L E G | V V D p.1020
. . . . . . g.62212
GGAGCTCCATATTCCATGATTTCTGACTTCCCTTGGCTGAGGTCATTACGAGCTGCAGAG c.3120
G A P Y S M I S D F P W L R S L R A A E p.1040
. . . . | 22 . . g.63003
CCCAACAGCTTCGCTCGATACGACTTTGAAGACGATGAAGAAA | GCACTATCTATGCTCCT c.3180
P N S F A R Y D F E D D E E S | T I Y A P p.1060
. . . . . . g.63063
AGAAGGAAAGGACAGCTGTCTGCAGACATCTGTATGGAAACAATAGGAGAGGAAATTTCA c.3240
R R K G Q L S A D I C M E T I G E E I S p.1080
. . . . . . g.63123
GAGATGCGTCAGATGAAGAAGGGTGTATTTCAGCGAGTAGTGGCAATTTTTATCCACTAT c.3300
E M R Q M K K G V F Q R V V A I F I H Y p.1100
. . . . g.63165
TGTGATGTCAATGGAGAGCCAGTTGAAGATGACTACATTTAA c.3342
C D V N G E P V E D D Y I X p.1113
. . . . . . g.63225
ttggtccctcctcctttccagctattttgtcagaaagcaagtagggccatccagctgcca c.*60
. . . . . . g.63285
gagtgctccacagggacttgaggcatgcagttgggaggtcctggctcggtttgctatata c.*120
. . . . . . g.63345
gggaatatataaggaacatcgaaattgtatacaaagatttgtacataaaaaatatacaaa c.*180
. . . . . . g.63405
gacgcttcctaaagtaccaactttatatcatatgtttatacaatttaatttaaaaattca c.*240
. . . . . . g.63465
ttttaaggaagacagataatttgaaagacttttgtttttcttgacttaattcatgaagta c.*300
. . . . . . g.63525
tcattttttgactgagtctccatttacttcattcttaatgattattgtcatccctttaaa c.*360
. . . . . . g.63585
tctgtgcctttttcttcttgagcgaagctgtttgagtaaacctgttgaagagtgtttgtg c.*420
. . . . . . g.63645
tcttttgtgcttttttgttgttattaaaacaccaactaaaccttatagtcaagacaaggc c.*480
. . . . . . g.63705
tctatgtttctgtacaaagctgtagttctttcttagtattatagttgccatgtttcttaa c.*540
. . . . . . g.63765
aatcaagtaaaaagacttatgagcttaaaaaaaagtgagtttgagagggaaatggaaaag c.*600
. . . . . . g.63825
tttccagagtatttctagtaatttatttccacattgaattgtgtatatgctttatcttga c.*660
. . g.63854
atataaaataaaagtttattaaaaacttt c.*689
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center