(used for variant description)
(last modified November 4, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_182760.3 in the SUMF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering SUMF1 transcript NM_182760.3.
(upstream sequence)
. . . g.5037
cacgtgaccaaccgggtcacatggcccgcgggacaac c.-1
. . . . . . g.5097
ATGGCTGCGCCCGCACTAGGGCTGGTGTGTGGACGTTGCCCTGAGCTGGGTCTCGTCCTC c.60
M A A P A L G L V C G R C P E L G L V L p.20
. . . . . . g.5157
TTGCTGCTGCTGCTCTCGCTGCTGTGTGGAGCGGCAGGGAGCCAGGAGGCCGGGACCGGT c.120
L L L L L S L L C G A A G S Q E A G T G p.40
. . . . . . g.5217
GCGGGCGCGGGGTCCCTTGCGGGTTCTTGCGGCTGCGGCACGCCCCAGCGGCCTGGCGCC c.180
A G A G S L A G S C G C G T P Q R P G A p.60
. . . . . . g.5277
CATGGCAGTTCGGCAGCCGCTCACCGATACTCGCGGGAGGCTAACGCTCCGGGCCCCGTA c.240
H G S S A A A H R Y S R E A N A P G P V p.80
. . . | 02 . . . g.19263
CCCGGAGAGCGGCAACTCGCGCACTCAAAG | ATGGTCCCCATCCCTGCTGGAGTATTTACA c.300
P G E R Q L A H S K | M V P I P A G V F T p.100
. . . . . . g.19323
ATGGGCACAGATGATCCTCAGATAAAGCAGGATGGGGAAGCACCTGCGAGGAGAGTTACT c.360
M G T D D P Q I K Q D G E A P A R R V T p.120
. . . . . . g.19383
ATTGATGCCTTTTACATGGATGCCTATGAAGTCAGTAATACTGAATTTGAGAAGTTTGTG c.420
I D A F Y M D A Y E V S N T E F E K F V p.140
. . | 03 . . . . g.22978
AACTCAACTGGCTATTTGACAGAG | GCTGAGAAGTTTGGCGACTCCTTTGTCTTTGAAGGC c.480
N S T G Y L T E | A E K F G D S F V F E G p.160
. . . | 04 . . g.52157
ATGTTGAGTGAGCAAGTGAAGACCAATATTCAACAGGCA | GTTGCAGCTGCTCCCTGGTGG c.540
M L S E Q V K T N I Q Q A | V A A A P W W p.180
. . . . . . g.52217
TTACCTGTGAAAGGCGCTAACTGGAGACACCCAGAAGGGCCTGACTCTACTATTCTGCAC c.600
L P V K G A N W R H P E G P D S T I L H p.200
| 05 . . . . . . g.54208
AG | GCCGGATCATCCAGTTCTCCATGTGTCCTGGAATGATGCGGTTGCCTACTGCACTTGG c.660
R | P D H P V L H V S W N D A V A Y C T W p.220
. . . . . . g.54268
GCAGGGAAGCGGCTGCCCACGGAAGCTGAGTGGGAATACAGCTGTCGAGGAGGCCTGCAT c.720
A G K R L P T E A E W E Y S C R G G L H p.240
| 06 . . . . . . g.55095
AATAG | ACTTTTCCCCTGGGGCAACAAACTGCAGCCCAAAGGCCAGCATTATGCCAACATT c.780
N R | L F P W G N K L Q P K G Q H Y A N I p.260
. . . . . . g.55155
TGGCAGGGCGAGTTTCCGGTGACCAACACTGGTGAGGATGGCTTCCAAGGAACTGCGCCT c.840
W Q G E F P V T N T G E D G F Q G T A P p.280
| 07 . . . . . . g.61364
| GTTGATGCCTTCCCTCCCAATGGTTATGGCTTATACAACATAGTGGGGAACGCATGGGAA c.900
| V D A F P P N G Y G L Y N I V G N A W E p.300
. . . . . | 08 . g.95899
TGGACTTCAGACTGGTGGACTGTTCATCATTCTGTTGAAGAAACGCTTAACCCA | AAAGGT c.960
W T S D W W T V H H S V E E T L N P | K G p.320
. . . . . | 09 . g.110034
CCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGG | TCTTAT c.1020
P P S G K D R V K K G G S Y M C H R | S Y p.340
. . . . . . g.110094
TGTTACAGGTATCGCTGTGCTGCTCGGAGCCAGAACACACCTGATAGCTCTGCTTCGAAT c.1080
C Y R Y R C A A R S Q N T P D S S A S N p.360
. . . . g.110139
CTGGGATTCCGCTGTGCAGCCGACCGCCTGCCCACTATGGACTGA c.1125
L G F R C A A D R L P T M D X p.374
. . . . . . g.110199
caaccaaggaaagtcttccccagtccaaggagcagtcgtgtctgacctacattgggcttt c.*60
. . . . . . g.110259
tctcagaactttgaacgatcccatgcaaagaattcccaccctgaggtgggttacatacct c.*120
. . . . . . g.110319
gcccaatggccaaaggaaccgccttgtgagaccaaattgctgacctgggtcagtgcatgt c.*180
. . . . . . g.110379
gctttatggtgtggtgcatctttggagatcatcaccatattttacttttgagagtcttta c.*240
. . . . . . g.110439
aagaggaaggggagtggagggaaccctgagctaggcttcaggaggcccgcgtcctacgca c.*300
. . . . . . g.110499
ggctctgccacaggggttagaccccaggtccgacgcttgaccttcctgggcctcaagtgc c.*360
. . . . . . g.110559
cctcccctatcaaatgaagggatggacagcatgacctctgggtgtctctccaactcacca c.*420
. . . . . . g.110619
gttctaaaaagggtatcagattctattgtgacttcatagtgagaatttattatagattat c.*480
. . . . . . g.110679
tttttagctattttttccatgtgtgaaccttgagtgatactaatcatgtaaagtaagagt c.*540
. . . . . . g.110739
tctcttatgtattattttcggaagaggggtgtggtgactcctttatattcgtactgcact c.*600
. . . . . . g.110799
ttgtttttccaaggaaatcagtgtcttttacgttgttatgatgaatcccacatggggccg c.*660
. . . . . . g.110859
gtgatggtatgctgaagttcagccgttgaacacataggaatgtctgtggggtgactctac c.*720
. . . . . . g.110919
tgtgctttatcttttaacattaagtgcctttggttcagaggggcagtcataagctctgtt c.*780
. . . . . . g.110979
tccccctctccccaaagccttcagcgaacgtgaaatgtgcgctaaacggggaaacctgtt c.*840
. . . . . . g.111039
taattctagatatagggaaaaaggaacgaggaccttgaatgagctatattcagggtatcc c.*900
. . . . . . g.111099
ggtattttgtaatagggaataggaaaccttgttggctgtggaatatccgatgctttgaat c.*960
. . . g.111138
catgcactgtgttgaataaacgtatctgctaaatcaggc c.*999
(downstream sequence)
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