(used for variant description)
(last modified September 13, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_138383.2 in the MTSS1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering MTSS1L transcript NM_138383.2.
(upstream sequence)
. . g.5020
tccccgcgccgaggctgcgc c.-241
. . . . . . g.5080
cgcgagctgcccgcgccgcgccccccgcgccgcccgccagccccgctgcgacatggcccg c.-181
. . . . . . g.5140
cgccgcccgccggaggcccgcgaccccggagcgcggcgcggccggccgctgagcgcagcc c.-121
. . . . . . g.5200
tggaggcgggaggcccggcccggcctcggagcgagcgcccgcgcggcctggccccctccc c.-61
. . . . . . g.5260
ttgcgctgctccccgcgctccgtgcgcctagccgccgccgcggcccggcccagccagagc c.-1
. . . . . . g.5320
ATGGAGACGGCGGAGAAGGAGTGCGGCGCCCTGGGCGGGCTCTTCCAGGCCATAGTCAAC c.60
M E T A E K E C G A L G G L F Q A I V N p.20
| 02 . . . . . g.10077
GACATGAAG | AGCTCCTACCCTATCTGGGAGGACTTCAACTCCAAGGCCACGAAGCTGCAT c.120
D M K | S S Y P I W E D F N S K A T K L H p.40
. | 03 . . . . . g.10233
TCCCAGCTGAG | GACCACCGTGCTGGCTGCTGTGGCCTTCCTGGATGCCTTCCAGAAAGTG c.180
S Q L R | T T V L A A V A F L D A F Q K V p.60
. . | 04 . . . . g.11031
GCTGACATGGCTACCAACACCCGAG | GGGCCACGAGGGACATCGGCTCGGCGCTCACACGC c.240
A D M A T N T R G | A T R D I G S A L T R p.80
. . . . . | 05 . g.11184
ATGTGCATGCGCCACCGCAGCATCGAGACCAAGCTGCGGCAGTTCACCAA | CGCACTGCTG c.300
M C M R H R S I E T K L R Q F T N | A L L p.100
. . . . . . g.11244
GAGAGCCTCATCAACCCGCTGCAGGAGCGCATCGAGGACTGGAAGAAGGCGGCCAACCAG c.360
E S L I N P L Q E R I E D W K K A A N Q p.120
. . | 06 . . . . g.11385
CTGGACAAGGACCACGCGAAAG | AGTACAAACGAGCCCGGCATGAGATCAAAAAGAAGTCG c.420
L D K D H A K E | Y K R A R H E I K K K S p.140
. . . | 07. | 08 . . g.12656
TCGGACACGCTGAAGCTGCAGAAGAAGGCGCGCAAAG | AGCTACTTG | GGAAAGGAGACCTG c.480
S D T L K L Q K K A R K E | L L G | K G D L p.160
. . . . . . g.12716
CAGCCCCAGCTGGACAGTGCCCTGCAGGACGTCAACGACATGTACCTGCTGCTGGAGGAG c.540
Q P Q L D S A L Q D V N D M Y L L L E E p.180
. . . . . . g.12776
ACGGAGAAGCAGGCCGTGCGCCGGGCGCTGATCGAGGAGCGGGGCCGCTTCTGCACCTTC c.600
T E K Q A V R R A L I E E R G R F C T F p.200
. . | 09 . . . . g.13188
ATCACCTTCCTGCAGCCTGTGGTG | AATGGAGAGCTGACCATGCTGGGAGAGATCACCCAC c.660
I T F L Q P V V | N G E L T M L G E I T H p.220
. . . . . . g.13248
CTGCAGGGCATCATCGACGACTTGGTGGTGCTGACAGCAGAACCCCACAAACTGCCTCCC c.720
L Q G I I D D L V V L T A E P H K L P P p.240
. | 10 . . . . . g.14121
GCCAGCGAGCAG | GTAATCAAAGACCTAAAGGGCTCGGACTACAGCTGGTCCTACCAGACC c.780
A S E Q | V I K D L K G S D Y S W S Y Q T p.260
. . . . . | 11 . g.16533
CCACCCTCATCACCCAGCAGCTCCAGCTCCCGGAAGTCCAGCATGTGCAG | TGCCCCCAGC c.840
P P S S P S S S S S R K S S M C S | A P S p.280
. . . . . . g.16593
AGCAGTAGCAGTGCCAAGGGTGGCGGAGCCCCATGGCCTGGGGGTGCCCAAACATACTCA c.900
S S S S A K G G G A P W P G G A Q T Y S p.300
. . . . . . g.16653
CCCAGTTCCACCTGTCGCTACCGCAGCCTGGCGCAGCCAGCCACCACCACCGCTCGCCTC c.960
P S S T C R Y R S L A Q P A T T T A R L p.320
. . . . . . g.16713
TCCAGCGTTTCCTCCCATGACTCTGGCTTCGTCTCCCAGGACGCCACCTACTCCAAGCCC c.1020
S S V S S H D S G F V S Q D A T Y S K P p.340
. . . | 12 . . . g.25538
CCCTCGCCTATGCCTTCAGACATCACCAGCCAG | AAGTCCTCCAGCTCTGCATCTTCCGAG c.1080
P S P M P S D I T S Q | K S S S S A S S E p.360
. . . . | 13 . g.25967
GCCTCGGAAACCTGCCAGTCCGTTAGCGAGTGCAGCTCCCCCACCTCG | GACTGGTCCAAG c.1140
A S E T C Q S V S E C S S P T S | D W S K p.380
. . . . . . g.26027
GTCGGCTCCCATGAGCAGCCCTCAGGCGCCACTCTGCAGCGGAGGAAGGACCGAGTGGAG c.1200
V G S H E Q P S G A T L Q R R K D R V E p.400
. . . . . . g.26087
CTCCTGCGAGACACAGAGCCAGGCCCTGCCAGTGGGGGCACCCTGGGCCCCAGCGGGGAA c.1260
L L R D T E P G P A S G G T L G P S G E p.420
. . . . | 14 . . g.26303
GAGGCACCGCGACCCCGGATGTCCCCTGCCACCATCGCAGCCAAG | CACGGTGAGGAGGTG c.1320
E A P R P R M S P A T I A A K | H G E E V p.440
. . . . . . g.26363
TCCCCCGCCGCCAGTGACCTGGCCATGGTGCTGACGCGGGGCCTGAGCCTGGAGCACCAG c.1380
S P A A S D L A M V L T R G L S L E H Q p.460
. . . . . . g.26423
AAGAGCAGCCGGGACTCGCTGCAGTACTCCAGCGGCTACAGCACGCAGACCACCACGCCC c.1440
K S S R D S L Q Y S S G Y S T Q T T T P p.480
. . . | 15 . . . g.26631
TCCTGCTCTGAGGACACCATCCCCTCCCAAG | GCTCCGACTACGACTGCTACTCCGTGAAT c.1500
S C S E D T I P S Q G | S D Y D C Y S V N p.500
. . . . . . g.26691
GGGGATGCGGACAGCGAGGGCCCGCCCGAGTTTGACAAGTCATCCACCATCCCGCGCAAC c.1560
G D A D S E G P P E F D K S S T I P R N p.520
. . . . . . g.26751
AGCAACATCGCCCAGAACTACCGCCGCCTGATCCAGACCAAGCGCCCAGCCTCCACTGCT c.1620
S N I A Q N Y R R L I Q T K R P A S T A p.540
. . . . . . g.26811
GGGCTGCCCACCGCGGGGCTGCCCACGGCCACTGGCCTGCCCTCGGGCGCACCCCCCGGC c.1680
G L P T A G L P T A T G L P S G A P P G p.560
. . . . . . g.26871
GTGGCCACCATCCGCCGCACACCCTCCACCAAGCCCACCGTGCGCCGCGCCCTGTCCAGC c.1740
V A T I R R T P S T K P T V R R A L S S p.580
. . . . . . g.26931
GCTGGCCCCATCCCCATCCGGCCGCCCATCGTCCCTGTGAAGACGCCCACGGTGCCTGAC c.1800
A G P I P I R P P I V P V K T P T V P D p.600
. . . . . . g.26991
TCCCCCGGCTACATGGGGCCCACACGGGCGGGCAGTGAGGAGTGCGTCTTCTATACCGAC c.1860
S P G Y M G P T R A G S E E C V F Y T D p.620
. . . . . . g.27051
GAGACCGCCTCACCCCTGGCACCGGACCTCGCCAAGGCCTCCCCAAAGAGGCTCAGCCTG c.1920
E T A S P L A P D L A K A S P K R L S L p.640
. . . . . . g.27111
CCCAACACAGCCTGGGGCAGCCCATCCCCAGAGGCAGCCGGGTACCCCGGGGCAGGGGCC c.1980
P N T A W G S P S P E A A G Y P G A G A p.660
. . . . . . g.27171
GAGGACGAGCAGCAGCAGCTGGCGGCCAACCGGCACAGCCTGGTGGAGAAGCTGGGGGAG c.2040
E D E Q Q Q L A A N R H S L V E K L G E p.680
. . . . . . g.27231
CTGGTGGCGGGTGCCCACGCACTGGGTGAGGGCCAGTTCCCCTTCCCCACTGCTCTGTCG c.2100
L V A G A H A L G E G Q F P F P T A L S p.700
. . . . . . g.27291
GCCACCCCCACGGAGGAGACGCCCACCCCACCCCCAGCCGCCACCAGCGACCCCCCGGCC c.2160
A T P T E E T P T P P P A A T S D P P A p.720
. . . . . . g.27351
GAAGACATGCTGGTGGCCATCCGGCGTGGGGTCCGGCTCCGCAGGACCGTCACCAACGAC c.2220
E D M L V A I R R G V R L R R T V T N D p.740
. . g.27375
AGGTCGGCGCCCCGCATCTTATGA c.2244
R S A P R I L X p.747
. . . . . . g.27435
tggcgccaccctccccatcctctcaggccccagtgcgagcaggtggcctggtctgtgagc c.*60
. . . . . . g.27495
cgcaggcactcagagcaaaggcccagccaggagagaggacagagccagggcagaggccat c.*120
. . . . . . g.27555
gccactttatggaaagacacctcacttggattccagcatttaaacaggaagtgacttctt c.*180
. . . . . . g.27615
agcaagcctggccaggacggagcctgcaggcctgggcctggttcggggtctgttttatgc c.*240
. . . . . . g.27675
tcttcggtccctcctcttcctcctctggggccctgcctcttccctacccataagcaccag c.*300
. . . . . . g.27735
agccagggccgctgcccatgacagaggggccaggctggcctccctttcaccatcccggcc c.*360
. . . . . . g.27795
tctcccagggctggtcctgcctcagctcctcctggaatgctggcccccctctcccctgcc c.*420
. . . . . . g.27855
tgagccccctcctcccctcttgccttctctctgcctctcccaggcccctctccctccagg c.*480
. . . . . . g.27915
aggcggggcggctgtggaggggccaggtgcacgctgggctggatgtctgctgggggctgg c.*540
. . . . . . g.27975
gggccagggcggcaggttggagttgggcggccaggccccccgtgtgggaagggagttcca c.*600
. . . . . . g.28035
gggcccacgccaagtctcagggaggaaaccaggggctgcttgggggggggggtcttgggg c.*660
. . . . . . g.28095
gccctgtggtggctcccacccctcgcctcccccaccccgtgaggctggctggagggggcc c.*720
. . . . . . g.28155
agagcagctctttggaaactagggcagcagggttaggaggccggaggccctggggtcacc c.*780
. . . . . . g.28215
ggccagccacacaggcaccgttttcagatgtccacttctcattgggtacatcaatctttt c.*840
. . . . . . g.28275
aactttgggggtcacagttttagccacctttcggggggtgactggagcagtaggaggtgt c.*900
. . . . . . g.28335
ggggtcattttatgaatataataaaatggagctgactgtggacgaggactaagtgtgggg c.*960
. . . . . . g.28395
gagaggggacgatacagggtgtgtgtctgggagtgcctgggggacagggaccccccggtg c.*1020
. . . . . . g.28455
gtcctatggcaggatgagaagggagggacttggctcccccagagcccggtggaagctact c.*1080
. . . . . . g.28515
gttctctccagtgtctcgagcgtagccaaaataaggttgggaggctcccggcctgtctgc c.*1140
. . . . . . g.28575
tgtggtctgagctggctgcaagcccaggtgggggagcgagtctgggaagattggctttga c.*1200
. . . . . . g.28635
ctctctgttgccggaggagatgccatcccagcacggcccccactgtagtccaggctcgtg c.*1260
. . . . . . g.28695
gtggcagcgggggcaaggggaggggcaaggctgcccccaccccacgcaccaagtcacgcc c.*1320
. . . . . . g.28755
aagtctcagcaggtaaaagcacgtgagcctagggcgagcggagggagtcctggtggcccc c.*1380
. . . . . . g.28815
gcaggtcaggagggaaagcagggctcagagggcatcgtggccccagggcagggtcctacc c.*1440
. . . . . . g.28875
tgggggtcaggagcaccttggtcttgatgattgattgattgattgatagaatggagctgg c.*1500
. . . . . . g.28935
gtctgagcctcccaggcttgagctcctgggagttcttgtgcggtgagctgggcagctcct c.*1560
. . . . . . g.28995
gggtaggtccgggcaccaagcaggccctgatgtggacagagtcccatcagagggagctga c.*1620
. . . . . . g.29055
tgaagaatggtccctgtaagtaagtcactaggttcaacaactgcctggccgagcactcag c.*1680
. . . . . . g.29115
cccgtggagctcaggccaacaccagagccccggttttaggggccaggagagcaggtgacc c.*1740
. . . . . . g.29175
aattatttggggagtcttgggtagaatttccgccacacattctccccagggctgcagggg c.*1800
. . . . . . g.29235
tcttccgaggcagggcggtggagcaggattcaggatgtggtgggaatagagtgaggggca c.*1860
. . . . . . g.29295
gtgggtgggcagacctgggcgtcagaggtcctgatgggaaaggaggcaggggctacccag c.*1920
. . . . . . g.29355
agaggggggctcgtgtggcacagcccccaccgactccgccgtccccctcccctgtgagcc c.*1980
. . . . . . g.29415
ccgggggctgtacatactctactccatccccttgtccatccctgagaccacccccgccgc c.*2040
. . . . . . g.29475
ccttgcgtcgacttagcaaccacctcataggcccacccacctcgggatccgagccaacca c.*2100
. . . . . . g.29535
tcccacatcacaaactttggtttgggggactttacgttcgtttaatttctcattttgtac c.*2160
. . . . . . g.29595
ggagaaatattcttttcaaaagcgtcttttgactgaagtaactttcctggtgctgttgtt c.*2220
. . . . . . g.29655
aactcgttcctttttttaatttattcccccaccccaggcagccctcctggttcctactca c.*2280
. . . . . . g.29715
ccctccccccctcccccaccctccgtcccatctgaaccatttgtttcttttctttccgtc c.*2340
. . . . . . g.29775
agattttggaaaaattctcctctcctccccgccccctccacaccatcctccccgatttaa c.*2400
. . . . . . g.29835
atatagtcactgctacaagtaacagatgcactgtgaagattccagtattaataaaggtgt c.*2460
. g.29848
actgtaattaaca c.*2473
(downstream sequence)
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