(used for variant description)
(last modified March 1, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_025129.4 in the FUZ gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032843.1, covering FUZ transcript NM_025129.4.
(upstream sequence)
. . g.5024
aatgggtttgggggaggtgcctga c.-181
. . . . . . g.5084
atagggtttgagggtctgtttgagttgggtgaagaaggcgggaagttaatcctcttccaa c.-121
. . . . . . g.5144
tcagctccccatctcgccctctggcggctccggaccacaggccgagttactctgattacc c.-61
. . . . . . g.5204
gccatgctccaagacccgcactgacagtccccacgtgagggaccgcggtgggagtcctaa c.-1
. . . . . . g.5264
ATGGGGGAGGAGGGGACGGGCGGCACTGTGCATCTGCTGTGCCTCGCGGCCTCCAGCGGG c.60
M G E E G T G G T V H L L C L A A S S G p.20
. . . . . | 02 . g.5583
GTCCCCCTATTCTGCAGGAGCAGTCGCGGCGGCGCCCCCGCCCGTCAGCAG | CTCCCGTTC c.120
V P L F C R S S R G G A P A R Q Q | L P F p.40
. . . . . . g.5643
TCTGTCATCGGTTCCCTCAATGGAGTCCACATGTTTGGGCAGAATCTGGAGGTGCAGCTG c.180
S V I G S L N G V H M F G Q N L E V Q L p.60
. . . . . | 03 . g.5982
AGCTCTGCGAGGACCGAGAACACGACTGTGGTGTGGAAAAGCTTCCATGACAG | CATCACC c.240
S S A R T E N T T V V W K S F H D S | I T p.80
. . . . . . g.6042
CTCATTGTTCTGTCATCTGAGGTGGGCATCTCTGAGCTGAGGCTGGAGAGACTACTCCAA c.300
L I V L S S E V G I S E L R L E R L L Q p.100
. | 04 . . . . g.6653
ATGGTGTTTGGAGCCATG | GTCCTTCTTGTGGGACTTGAAGAACTGACCAATATCCGCAAC c.360
M V F G A M | V L L V G L E E L T N I R N p.120
. . | 05. . . . g.6876
GTGGAGAGACTGAAGAAGGACTTGAGG | GCCAGTTATTGCCTCATCGACAGCTTCCTGGGG c.420
V E R L K K D L R | A S Y C L I D S F L G p.140
. . . . . . g.6936
GACTCGGAGCTCATCGGGGACCTGACCCAGTGTGTGGACTGCGTGATTCCTCCAGAGGGG c.480
D S E L I G D L T Q C V D C V I P P E G p.160
. | 06 . . . . . g.8783
TCCCTCTTGCAG | GAAGCCCTCTCCGGGTTCGCTGAGGCCGCGGGCACGACCTTCGTCAGT c.540
S L L Q | E A L S G F A E A A G T T F V S p.180
. . . . . . g.8843
CTGGTGGTGTCCGGCCGGGTGGTGGCAGCAACAGAGGGTTGGTGGCGGCTGGGGACGCCC c.600
L V V S G R V V A A T E G W W R L G T P p.200
. . . . . . g.8903
GAGGCCGTGCTGCTCCCCTGGCTGGTGGGGTCCCTGCCGCCGCAGACCGCTCGCGACTAC c.660
E A V L L P W L V G S L P P Q T A R D Y p.220
. . . | 07 . . . g.9082
CCGGTGTACCTGCCGCACGGGAGCCCCACG | GTCCCACACCGGCTCCTGACCCTGACTCTG c.720
P V Y L P H G S P T | V P H R L L T L T L p.240
. . . . . . g.9142
CTGCCGAGCCTGGAGCTGTGTCTACTCTGCGGGCCGAGCCCACCCCTCAGCCAGTTGTAT c.780
L P S L E L C L L C G P S P P L S Q L Y p.260
| 08 . . . . . . g.9541
CCACAG | CTTCTGGAGCGCTGGTGGCAGCCACTGCTGGACCCGTTGCGGGCCTGTCTGCCG c.840
P Q | L L E R W W Q P L L D P L R A C L P p.280
. . . . . | 09 . g.9679
TTGGGACCCCGGGCGCTGCCCAGTGGCTTCCCCCTTCACACAGACATCCTCGG | GCTGCTG c.900
L G P R A L P S G F P L H T D I L G | L L p.300
. . . . . | 10 g.9824
CTCCTCCACCTGGAACTGAAGCGCTGCCTCTTCACCGTGGAGCCCTTGGGGGATAAAG | AG c.960
L L H L E L K R C L F T V E P L G D K E | p.320
. . . . . . g.9884
CCTTCACCAGAACAGCGCCGGCGCCTCCTCCGAAACTTCTATACCCTGGTCACCTCCACG c.1020
P S P E Q R R R L L R N F Y T L V T S T p.340
. | 11 . . . . . g.10983
CACTTCCCACCAG | AGCCAGGGCCACCAGAGAAGACAGAAGATGAGGTCTACCAGGCCCAG c.1080
H F P P E | P G P P E K T E D E V Y Q A Q p.360
. . . . . . g.11043
CTGCCCAGAGCTTGCTACCTGGTGTTGGGGACTGAGGAACCAGGCACAGGAGTGCGTCTG c.1140
L P R A C Y L V L G T E E P G T G V R L p.380
. . . . . . g.11103
GTGGCCTTGCAGCTGGGGCTTCGGCGGCTGCTGCTGCTGCTGTCTCCCCAGAGTCCCACC c.1200
V A L Q L G L R R L L L L L S P Q S P T p.400
. . . . . g.11160
CATGGGCTGCGAAGCCTGGCCACCCACACTCTGCATGCCCTCACCCCACTTCTTTGA c.1257
H G L R S L A T H T L H A L T P L L X p.418
. . . . . . g.11220
ctacctagcagtgggtgatggacacagacatggggctgttagcgtctctctgtttattcg c.*60
. . . . . . g.11280
ctcacaataatacacagcccctggatggggagggggtaggaggggctacaacagggtggg c.*120
. . . . . . g.11340
gtgggaggggaggagacatccacttccctggcccctctcccctctgtgcttgggggggaa c.*180
. . . . . . g.11400
agggagggagggggactccccctaaccccccagaatgtaaacagcagcagatgaacaaaa c.*240
. . . . g.11445
ataaaaatacaaaaggccggaggaaagtcccaggcatcccccaaa c.*285
(downstream sequence)
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