(used for variant description)
(last modified December 14, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_152753.2 in the SCUBE3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_050574.1, covering SCUBE3 transcript NM_152753.2.
(upstream sequence)
g.5006
ccagcc c.-1
. . . . . . g.5066
ATGGGCTCGGGGCGCGTACCCGGGCTCTGCCTGCTTGTCCTGCTGGTCCACGCCCGCGCC c.60
M G S G R V P G L C L L V L L V H A R A p.20
. . | 02 . . . . g.18202
GCCCAGTACAGCAAAGCCGCGCAAG | ATGTGGATGAGTGTGTGGAGGGGACTGACAACTGC c.120
A Q Y S K A A Q D | V D E C V E G T D N C p.40
. . . . . . g.18262
CACATCGATGCTATCTGCCAGAACACCCCGAGGTCATACAAGTGCATCTGCAAGTCTGGC c.180
H I D A I C Q N T P R S Y K C I C K S G p.60
. . | 03 . . . g.19233
TACACAGGGGACGGCAAACACTGCAAAG | ACGTGGATGAGTGCGAGCGAGAGGATAATGCA c.240
Y T G D G K H C K D | V D E C E R E D N A p.80
. . . . . . g.19293
GGTTGTGTGCATGACTGTGTCAACATCCCTGGCAATTACCGGTGTACCTGCTATGATGGA c.300
G C V H D C V N I P G N Y R C T C Y D G p.100
. . . | 04 . . . g.22338
TTCCACCTGGCACATGACGGACACAACTGTCTGG | ATGTGGACGAGTGTGCCGAGGGCAAC c.360
F H L A H D G H N C L D | V D E C A E G N p.120
. . . . . . g.22398
GGCGGCTGTCAGCAGAGCTGTGTCAACATGATGGGCAGCTATGAGTGCCACTGCCGGGAA c.420
G G C Q Q S C V N M M G S Y E C H C R E p.140
. . . . | 05 . g.23448
GGCTTCTTCCTCAGCGACAACCAGCATACCTGTATCCAGCGGCCAGAAG | AAGGAATGAAT c.480
G F F L S D N Q H T C I Q R P E E | G M N p.160
. . . . . . g.23508
TGCATGAACAAGAACCACGGCTGTGCCCACATTTGCCGGGAGACACCCAAGGGGGGTATT c.540
C M N K N H G C A H I C R E T P K G G I p.180
. . . . . | 06 . g.23777
GCCTGTGAATGCCGTCCTGGCTTTGAGCTTACCAAGAACCAACGGGACTGTAAAT | TGACA c.600
A C E C R P G F E L T K N Q R D C K L | T p.200
. . . . . . g.23837
TGCAACTATGGTAACGGCGGCTGCCAGCACACGTGTGATGACACAGAGCAGGGTCCCCGG c.660
C N Y G N G G C Q H T C D D T E Q G P R p.220
. . . . . | 07 . g.28497
TGCGGCTGCCATATCAAGTTTGTGCTCCATACCGACGGGAAGACATGCATCG | AGACCTGT c.720
C G C H I K F V L H T D G K T C I E | T C p.240
. . . . . . g.28557
GCTGTCAACAACGGGGGCTGTGACAGTAAGTGCCATGATGCAGCGACTGGTGTCCACTGC c.780
A V N N G G C D S K C H D A A T G V H C p.260
. . . . | 08 . g.30350
ACCTGCCCTGTGGGCTTCATGCTGCAGCCAGACAGGAAGACGTGCAAAG | ATATAGATGAG c.840
T C P V G F M L Q P D R K T C K D | I D E p.280
. . . . . . g.30410
TGCCGCTTAAACAACGGGGGCTGTGACCATATTTGCCGCAACACAGTGGGCAGCTTCGAA c.900
C R L N N G G C D H I C R N T V G S F E p.300
. . . . . | 09 . g.30969
TGCAGTTGCAAGAAAGGCTATAAGCTTCTCATCAATGAGAGGAACTGCCAGG | ATATAGAC c.960
C S C K K G Y K L L I N E R N C Q D | I D p.320
. . . . . . g.31029
GAGTGTTCCTTTGATCGAACCTGTGACCACATATGTGTCAACACACCAGGAAGCTTCCAG c.1020
E C S F D R T C D H I C V N T P G S F Q p.340
. . . . | 10 . g.31739
TGTCTCTGCCATCGTGGCTACCTGTTGTATGGTATCACCCACTGTGGGG | ATGTGGATGAA c.1080
C L C H R G Y L L Y G I T H C G D | V D E p.360
. . . . . . g.31799
TGCAGCATCAACCGGGGAGGTTGCCGCTTTGGCTGCATCAACACTCCTGGCAGCTACCAG c.1140
C S I N R G G C R F G C I N T P G S Y Q p.380
. . . . . | 11 . g.32135
TGTACCTGCCCAGCAGGCCAGGGTCGGCTGCACTGGAATGGCAAAGATTGCACAG | AGCCA c.1200
C T C P A G Q G R L H W N G K D C T E | P p.400
. . . . . . g.32195
CTGAAGTGTCAGGGCAGTCCTGGGGCCTCGAAAGCCATGCTCAGCTGCAACCGGTCTGGC c.1260
L K C Q G S P G A S K A M L S C N R S G p.420
. . . . . | 12 . g.32401
AAGAAGGACACCTGTGCCCTGACCTGTCCCTCCAGGGCCCGATTTTTGCCAG | AGTCTGAG c.1320
K K D T C A L T C P S R A R F L P E | S E p.440
. . . . . . g.32461
AATGGCTTCACGGTGAGCTGTGGGACCCCCAGCCCCAGGGCTGCTCCAGCCCGAGCTGGC c.1380
N G F T V S C G T P S P R A A P A R A G p.460
. . . | 13. . . g.32814
CACAATGGGAACAGCACCAACTCCAACCACTGCCATG | AGGCTGCAGTGCTGTCCATTAAA c.1440
H N G N S T N S N H C H E | A A V L S I K p.480
. . . . . . g.32874
CAACGGGCCTCCTTCAAGATCAAGGATGCCAAATGCCGTTTGCACCTGCGAAACAAAGGC c.1500
Q R A S F K I K D A K C R L H L R N K G p.500
. . . | 14 . . . g.33235
AAAACAGAGGAGGCTGGCAGAATCACAGGGCCAG | GTGGTGCCCCCTGCTCTGAATGCCAG c.1560
K T E E A G R I T G P G | G A P C S E C Q p.520
. . . . . . g.33295
GTCACCTTCATCCACCTTAAGTGTGACTCCTCTCGGAAGGGCAAGGGCCGACGGGCCCGG c.1620
V T F I H L K C D S S R K G K G R R A R p.540
. . . . . . g.33355
ACCCCTCCAGGCAAAGAGGTCACAAGGCTCACCCTGGAACTGGAGGCAGAGGTCAGAGCC c.1680
T P P G K E V T R L T L E L E A E V R A p.560
. | 15 . . . . . g.33655
GAAGAAACCACAG | CCAGCTGTGGGCTGCCCTGCCTCCGACAGCGAATGGAACGGCGGCTG c.1740
E E T T A | S C G L P C L R Q R M E R R L p.580
. . . . . . g.33715
AAAGGATCCCTGAAGATGCTCAGAAAGTCCATCAACCAGGACCGCTTCCTGCTGCGCCTG c.1800
K G S L K M L R K S I N Q D R F L L R L p.600
. . . . . . g.33775
GCAGGCCTTGATTATGAGCTGGCCCACAAGCCGGGCCTGGTAGCCGGGGAGCGAGCAGAG c.1860
A G L D Y E L A H K P G L V A G E R A E p.620
. . . . | 16 . g.34192
CCGATGGAGTCCTGTAGGCCCGGGCAGCACCGTGCTGGGACCAAGTGTG | TCAGCTGCCCG c.1920
P M E S C R P G Q H R A G T K C V | S C P p.640
. . . . . . g.34252
CAGGGAACGTATTACCACGGCCAGACGGAGCAGTGTGTGCCATGCCCAGCGGGCACCTTC c.1980
Q G T Y Y H G Q T E Q C V P C P A G T F p.660
. . . . . . g.34312
CAGGAGAGAGAAGGGCAGCTCTCCTGCGACCTTTGCCCTGGGAGTGATGCCCACGGGCCT c.2040
Q E R E G Q L S C D L C P G S D A H G P p.680
. . . | 17 . . . g.34579
CTTGGAGCCACCAACGTCACCACGTGTGCAG | GTCAGTGCCCACCTGGCCAACACTCTGTA c.2100
L G A T N V T T C A G | Q C P P G Q H S V p.700
. . . . . . g.34639
GATGGGTTCAAGCCCTGTCAGCCATGCCCACGTGGCACCTACCAACCTGAAGCAGGACGG c.2160
D G F K P C Q P C P R G T Y Q P E A G R p.720
. . . . . . g.34699
ACCCTATGCTTCCCTTGTGGTGGGGGCCTCACCACCAAGCATGAAGGGGCCATTTCCTTC c.2220
T L C F P C G G G L T T K H E G A I S F p.740
. | 18 . . . . g.35278
CAAGACTGTGACACCAAAG | TCCAGTGCTCCCCAGGGCACTACTACAACACCAGCATCCAC c.2280
Q D C D T K V | Q C S P G H Y Y N T S I H p.760
. . . . . . g.35338
CGCTGTATTCGCTGTGCCATGGGCTCCTATCAGCCCGACTTCCGTCAGAACTTCTGCAGC c.2340
R C I R C A M G S Y Q P D F R Q N F C S p.780
. . . . . . g.35398
CGCTGTCCAGGAAACACAAGCACAGACTTTGATGGCTCTACCAGTGTGGCCCAATGCAAG c.2400
R C P G N T S T D F D G S T S V A Q C K p.800
| 19 . . . . . . g.35874
A | ATCGTCAGTGTGGTGGGGAGCTGGGTGAGTTCACTGGCTATATTGAGTCCCCCAACTAC c.2460
N | R Q C G G E L G E F T G Y I E S P N Y p.820
. . . . . . g.35934
CCGGGCAACTACCCAGCTGGTGTGGAGTGCATCTGGAACATCAACCCCCCACCCAAGCGC c.2520
P G N Y P A G V E C I W N I N P P P K R p.840
. . . . . . g.35994
AAGATCCTTATCGTGGTACCAGAGATCTTCCTGCCATCTGAGGATGAGTGTGGGGACGTC c.2580
K I L I V V P E I F L P S E D E C G D V p.860
. | 20 . . . . g.36572
CTCGTCATGAGAAAGAACT | CATCCCCATCCTCCATTACCACTTATGAGACCTGCCAGACC c.2640
L V M R K N S | S P S S I T T Y E T C Q T p.880
. . . . . . g.36632
TACGAGCGTCCCATTGCCTTCACTGCCCGTTCCAGGAAGCTCTGGATCAACTTCAAGACA c.2700
Y E R P I A F T A R S R K L W I N F K T p.900
. . . . . | 21 . g.36801
AGCGAGGCCAACAGCGCCCGTGGCTTCCAGATTCCCTATGTTACCTATGATG | AGGACTAT c.2760
S E A N S A R G F Q I P Y V T Y D E | D Y p.920
. . . . . . g.36861
GAGCAGCTGGTAGAAGACATTGTGCGAGATGGCCGGCTCTATGCCTCTGAAAACCACCAG c.2820
E Q L V E D I V R D G R L Y A S E N H Q p.940
. | 22 . . . . . g.39191
GAGATTTTAAAG | GACAAGAAGCTCATCAAGGCCTTCTTTGAGGTGCTAGCCCACCCCCAG c.2880
E I L K | D K K L I K A F F E V L A H P Q p.960
. . . . . . g.39251
AACTACTTCAAGTACACAGAGAAACACAAGGAGATGCTGCCAAAATCCTTCATCAAGCTG c.2940
N Y F K Y T E K H K E M L P K S F I K L p.980
. . . . g.39293
CTCCGCTCCAAAGTTTCCAGCTTCCTGAGGCCCTACAAATAG c.2982
L R S K V S S F L R P Y K X p.993
. . . . . . g.39353
taaccctaggctcagagacccaattttttaagcccccagactccttagccctcagagccg c.*60
. . . . . . g.39413
gcagccccctaccctcagacaaggaactctctcctctctttttggagggaaaaaaaaaat c.*120
. . . . . . g.39473
atcactacacaaaccaggcactctccctttctgtctttctagtttcctttccttgtctct c.*180
. . . . . . g.39533
ctctgcctgcctctctactgttcccccttttctaacacactacctagaaaagccattcag c.*240
. . . . . . g.39593
tactggctctagtccccgtgagatgtaaagaaacagtacagccccttccactgcccattt c.*300
. . . . . . g.39653
taccagctcacattcccgaccccatcagcttggaagggtgctagaggcccatcaaggaag c.*360
. . . . . . g.39713
tgggtctggtgggaaacggggaggggaaagaagggcttctgccattatagggttgtgcct c.*420
. . . . . . g.39773
tgctagtcaggggccaaaatgtcccctggctctgctccctagggtgattctaacagccca c.*480
. . . . . . g.39833
gggtcctgccaaagaagcctttgatttacaggcttaatgccagcaccagtcctctggggc c.*540
. . . . . . g.39893
acatggtttgagctctggacttcccacatggccagctttcttgtctatacagatcctctc c.*600
. . . . . . g.39953
tttctttccctacgtctgcctggggtctactccataagggtttacaaatggcccacaaca c.*660
. . . . . . g.40013
ctgagttagtggacaccggctaaatgaggaagagcagcaggcattgtcatggtgaatgcc c.*720
. . . . . . g.40073
ccgctgtagctccctgagagaaagactgtaactctgcaggacagaaacaaggttttaaag c.*780
. . . . . . g.40133
cattgccaaaaaaaagaaaacagaaagaaaaaatgtatcatctaaaggactagacacaga c.*840
. . . . . . g.40193
acaattggaagtcaacttcaaacactaatcccttttcttgtcttccctggcccagccacc c.*900
. . . . . . g.40253
tcctcagccccatgtgatgctccctgggggagccctactccccttgctacatgttgtcct c.*960
. . . . . . g.40313
taaacatggttattgacctgaagccagcctaggccttgccctacagttgtttttcccttg c.*1020
. . . . . . g.40373
tagccccagctggcttgtgggcttcaccaaagaggaccccactctgaagccagcctggag c.*1080
. . . . . . g.40433
ccacctacctctggcctcaggctgtgggcagcaaaaggaatgtgtgtgcacttggcgagc c.*1140
. . . . . . g.40493
ctcctgcccaccctgtccacacctaataagtgcaatcattttgagtctttctatgttgtc c.*1200
. . . . . . g.40553
tagacggaggggtttttgttttctgggtttgttttttgtttttgtttcttcttcctctat c.*1260
. . . . . . g.40613
tagcaaaaccctatttatagctgcccaagagaaaagagtgtatgtttggagtggaagaaa c.*1320
. . . . . . g.40673
atcggttttgaatctcatgaaccttgagtgctggagcatctgatctgtctctatgccacc c.*1380
. . . . . . g.40733
actggccacctagagcccttggctgtggtaatccagggtaattgcgcagaggcatctgat c.*1440
. . . . . . g.40793
gtgtaggaaagtaattctggggatttgatggagcagaaaggagagagacctatgtttgct c.*1500
. . . . . . g.40853
aaaccaatcttgctatccctatgcctctccatggagtcagtgtggacctcatgattatag c.*1560
. . . . . . g.40913
aggccaatggaactggtcagtgattctctaccccaagtagggaaaacctccatcttttcc c.*1620
. . . . . . g.40973
ctgtcttcatcctgttatcccctggtgtacacatggaagaggaccaggacataccacctg c.*1680
. . . . . . g.41033
gggatgggctgactcagggtcccgaggccagagacaaagctgtgggagccaagaataaga c.*1740
. . . . . . g.41093
cagaaggcatcagatatttgcctggctctggtcacttccctttgaagttgacttcaagct c.*1800
. . . . . . g.41153
tagcttcctcaactactgtttttcagaaggaagaaagaatcaaatggaagaagaatcaag c.*1860
. . . . . . g.41213
tccatgcccaagcccaaagcctgcacacattctgcccttaatccaagtgttgcctataaa c.*1920
. . . . . . g.41273
attattttctgttttctcactctagttcccccaaagctgtagtcccaatcaatcaaaggc c.*1980
. . . . . . g.41333
taccaactgagtcctcaggttcatttcttttttttttttttttctttttaactctcctgg c.*2040
. . . . . . g.41393
taactcacagaacagctcaggttcatttctaggtgactgtcctaggctactgctccccca c.*2100
. . g.41420
ggagactcaacactaaataaaggagtc c.*2127
(downstream sequence)
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