(used for variant description)
(last modified March 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018359.3 in the UFSP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering UFSP2 transcript NM_018359.3.
(upstream sequence)
. . . . . g.5057
agttgtagttggtccgcccgggccccgcccctgggccgtgcggtgacaccacttcag c.-61
. . . . . . g.5117
ggccggcccccggaacttttgggcaggcgtcagcgcccgtgtcaccgccacgtcgcggac c.-1
| 02 . . . . . . g.8479
ATG | GTGATTTCAGAAAGTATGGATATACTCTTCAGAATAAGAGGAGGCCTTGATTTGGCT c.60
M | V I S E S M D I L F R I R G G L D L A p.20
. . | 03 . . . . g.12253
TTTCAGCTAGCTACTCCTAATG | AAATTTTTCTCAAGAAGGCACTGAAACATGTGTTGAGT c.120
F Q L A T P N E | I F L K K A L K H V L S p.40
. . . . . . g.12313
GACCTGTCAACTAAGCTGTCTTCAAACGCCCTTGTGTTCAGAATTTGCCACAGTTCAGTG c.180
D L S T K L S S N A L V F R I C H S S V p.60
. . . . . . g.12373
TATATATGGCCTAGCAGTGACATAAACACCATTCCTGGAGAACTGACTGATGCTTCTGCT c.240
Y I W P S S D I N T I P G E L T D A S A p.80
. . | 04 . . . . g.12512
TGTAAGAACATACTGCGCTTTATTCA | ATTTGAGCCAGAAGAAGATATAAAAAGAAAATTC c.300
C K N I L R F I Q | F E P E E D I K R K F p.100
. . . | 05 . . . g.15145
ATGAGAAAGAAGGACAAAAAGTTATCAGACATG | CATCAAATAGTAAATATAGATCTTATG c.360
M R K K D K K L S D M | H Q I V N I D L M p.120
. . . . . . g.15205
CTGGAAATGTCAACCTCCCTGGCAGCTGTAACGCCCATCATTGAAAGGGAAAGCGGAGGA c.420
L E M S T S L A A V T P I I E R E S G G p.140
. . . . . . g.15265
CACCATTATGTTAATATGACTTTACCTGTCGATGCAGTTATATCTGTTGCTCCAGAAGAA c.480
H H Y V N M T L P V D A V I S V A P E E p.160
. | 06 . . . . . g.15687
ACATGGGGAAA | AGTTCGTAAACTCCTGGTTGATGCAATTCATAATCAACTAACTGACATG c.540
T W G K | V R K L L V D A I H N Q L T D M p.180
. . . . . . g.15747
GAAAAATGTATTTTGAAATATATGAAAGGAACATCTATTGTGGTCCCTGAACCACTGCAC c.600
E K C I L K Y M K G T S I V V P E P L H p.200
. . . . . . g.15807
TTTTTATTACCAGGGAAAAAAAATCTTGTAACAATTTCATATCCTTCAGGAATACCAGAT c.660
F L L P G K K N L V T I S Y P S G I P D p.220
. . | 07 . . . . g.17149
GGCCAGCTGCAGGCCTATAGGAAG | GAGTTACATGATCTTTTCAATCTGCCTCACGACAGA c.720
G Q L Q A Y R K | E L H D L F N L P H D R p.240
. . . . . . g.17209
CCCTATTTCAAAAGGTCTAATGCTTATCACTTTCCAGATGAGCCATACAAAGATGGTTAC c.780
P Y F K R S N A Y H F P D E P Y K D G Y p.260
. . . . . | 08 . g.22559
ATTAGAAATCCACATACTTACCTTAATCCACCTAACATGGAGACTGGTATG | ATTTATGTG c.840
I R N P H T Y L N P P N M E T G M | I Y V p.280
. . . . . . g.22619
GTCCAGGGCATATATGGCTATCATCATTATATGCAGGATCGCATAGATGACAATGGCTGG c.900
V Q G I Y G Y H H Y M Q D R I D D N G W p.300
. . . . . . g.22679
GGCTGTGCTTATCGATCTCTGCAGACTATCTGCTCTTGGTTCAAACATCAGGGATACACA c.960
G C A Y R S L Q T I C S W F K H Q G Y T p.320
. . . | 09 . . . g.22949
GAGAGGTCCATTCCAACACACAGAGAAATTCAGCAG | GCTCTAGTCGATGCCGGGGACAAA c.1020
E R S I P T H R E I Q Q | A L V D A G D K p.340
. . . . . . g.23009
CCAGCAACATTTGTCGGATCGCGGCAATGGATTGGATCTATTGAGGTGCAGCTGGTACTA c.1080
P A T F V G S R Q W I G S I E V Q L V L p.360
. . . . | 10 . . g.25148
AACCAATTGATCGGTATAACGTCAAAAATCCTGTTTGTCAG | CCAAGGTTCAGAAATTGCC c.1140
N Q L I G I T S K I L F V S | Q G S E I A p.380
. . . . . | 11 g.27369
TCTCAAGGACGGGAACTGGCTAATCATTTCCAAAGTGAAGGAACTCCAGTTATGATCG | GG c.1200
S Q G R E L A N H F Q S E G T P V M I G | p.400
. . . . . . g.27429
GGAGGAGTTTTGGCCCACACAATACTAGGAGTTGCATGGAATGAGATTACAGGGCAGATA c.1260
G G V L A H T I L G V A W N E I T G Q I p.420
. . . . . . g.27489
AAGTTTCTGATTCTAGATCCACATTATACCGGTGCTGAAGACCTGCAAGTTATTTTGGAA c.1320
K F L I L D P H Y T G A E D L Q V I L E p.440
| 12 . . . . . . g.30564
AAG | GGCTGGTGCGGATGGAAGGGCCCAGATTTTTGGAACAAGGATGCATACTATAACTTA c.1380
K | G W C G W K G P D F W N K D A Y Y N L p.460
. . . g.30594
TGTCTTCCTCAGCGACCAAATATGATTTAA c.1410
C L P Q R P N M I X p.469
. . . . . . g.30654
aatatcttggagtcaaagactgcagtagagtggtattataaatttgtgaataaagaatca c.*60
. . . . . . g.30714
gtttaatttttcacattaaatcctggttctagtttgacgatttaaattatgacctttttc c.*120
. . . . . . g.30774
aaaggttgtaaatactgcacggagaatgtattttttagacgttcctttaataacttaaaa c.*180
. . . . . . g.30834
gacaaagcatacacaaccagcatattataggcatgtaaatacatgtgttcttaaatggat c.*240
. . . . . . g.30894
cttcacttggaagaaagtttttcgtccttctcagaaggagattagacacaacatatggta c.*300
. . . . . . g.30954
aagccaaaagcaggagcttatagatttgcatgaaatgaaggcgttcttcagacttcttca c.*360
. . . . . . g.31014
taacccacgtgacatctgtttttaaaaacacgttaacattaaaaacttttttttaaaaag c.*420
. . . . . . g.31074
agttttatccccaaacttccaccatgcagtcccatttttggtctctagactctggtaagt c.*480
. . . . . . g.31134
ataaccagtactaaaatgttaatgagaatgaaacaatactactagaaatacgagtgtcag c.*540
. . . . . . g.31194
tattaaatggaataataaatgctatgcaaacaagagatcactgcgggaggaaaaaagcag c.*600
. . . . . . g.31254
cagctctgagttacttaccagcacttccttttcccactggtattttctacacttccgaga c.*660
. . . . . . g.31314
ctccgtttctgtctgagcacggcaacacaatcattcctgtcagggtgttcacttgctttt c.*720
. . . . . . g.31374
attgtctgcatacatttaattgttgtaagaaacttggcacagtctggaaatccacatgac c.*780
. . . . . . g.31434
caagcgagatcttcagctgtttgcccgttcttattacataaactgaaaacaggataaaaa c.*840
. g.31446
cggagtgaaatg c.*852
(downstream sequence)
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