(used for variant description)
(last modified August 30, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003816.2 in the ADAM9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016335.1, covering ADAM9 transcript NM_003816.2.
(upstream sequence)
. g.5018
cggcagggttggaaaatg c.-61
. . . . . . g.5078
atggaagaggcggaggtggaggcgaccgagtgctgagaggaacctgcggaatcggccgag c.-1
. . . . . . g.5138
ATGGGGTCTGGCGCGCGCTTTCCCTCGGGGACCCTTCGTGTCCGGTGGTTGCTGTTGCTT c.60
M G S G A R F P S G T L R V R W L L L L p.20
. . . | 02. . . g.15923
GGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGCCAG | GCTTTCAACAGACCTCACATCTT c.120
G L V G P V L G A A R P G | F Q Q T S H L p.40
. . . . . . g.15983
TCTTCTTATGAAATTATAACTCCTTGGAGATTAACTAGAGAAAGAAGAGAAGCCCCTAGG c.180
S S Y E I I T P W R L T R E R R E A P R p.60
. | 03 . . . . . g.19717
CCCTATTCAAAACAA | GTATCTTATGTTATTCAGGCTGAAGGAAAAGAGCATATTATTCAC c.240
P Y S K Q | V S Y V I Q A E G K E H I I H p.80
. | 04 . . . . . g.22025
TTGGAAAGGAACAA | AGACCTTTTGCCTGAAGATTTTGTGGTTTATACTTACAACAAGGAA c.300
L E R N K | D L L P E D F V V Y T Y N K E p.100
. . . | 05 . . . g.24159
GGGACTTTAATCACTGACCATCCCAATATACAG | AATCATTGTCATTATCGGGGCTATGTG c.360
G T L I T D H P N I Q | N H C H Y R G Y V p.120
. . . . . | 06 . g.25243
GAGGGAGTTCATAATTCATCCATTGCTCTTAGCGACTGTTTTGGACTCAG | AGGATTGCTG c.420
E G V H N S S I A L S D C F G L R | G L L p.140
. . . . . . g.25303
CATTTAGAGAATGCGAGTTATGGGATTGAACCCCTGCAGAACAGCTCTCATTTTGAGCAC c.480
H L E N A S Y G I E P L Q N S S H F E H p.160
. . . . . . g.25363
ATCATTTATCGAATGGATGATGTCTACAAAGAGCCTCTGAAATGTGGAGTTTCCAACAAG c.540
I I Y R M D D V Y K E P L K C G V S N K p.180
. . . . . . g.25423
GATATAGAGAAAGAAACTGCAAAGGATGAAGAGGAAGAGCCTCCCAGCATGACTCAGCTA c.600
D I E K E T A K D E E E E P P S M T Q L p.200
| 07 . . . . . . g.26921
CTTCGA | AGAAGAAGAGCTGTCTTGCCACAGACCCGGTATGTGGAGCTGTTCATTGTCGTA c.660
L R | R R R A V L P Q T R Y V E L F I V V p.220
. | 08 . . . . . g.29705
GACAAGGAAAGG | TATGACATGATGGGAAGAAATCAGACTGCTGTGAGAGAAGAGATGATT c.720
D K E R | Y D M M G R N Q T A V R E E M I p.240
. . | 09 . . . . g.31206
CTCCTGGCAAACTACTTGGATAGT | ATGTATATTATGTTAAATATTCGAATTGTGCTAGTT c.780
L L A N Y L D S | M Y I M L N I R I V L V p.260
. . . . . . g.31266
GGACTGGAGATTTGGACCAATGGAAACCTGATCAACATAGTTGGGGGTGCTGGTGATGTG c.840
G L E I W T N G N L I N I V G G A G D V p.280
. . . . . . g.31326
CTGGGGAACTTCGTGCAGTGGCGGGAAAAGTTTCTTATCACACGTCGGAGACATGACAGT c.900
L G N F V Q W R E K F L I T R R R H D S p.300
. | 10 . . . . . g.33863
GCACAGCTAGTTCT | AAAGAAAGGTTTTGGTGGAACTGCAGGAATGGCATTTGTGGGAACA c.960
A Q L V L | K K G F G G T A G M A F V G T p.320
. . . | 11 . . . g.34715
GTGTGTTCAAGGAGCCACGCAGGCGGGATTAATGTG | TTTGGACAAATCACTGTGGAGACA c.1020
V C S R S H A G G I N V | F G Q I T V E T p.340
. . . . . . g.34775
TTTGCTTCCATTGTTGCTCATGAATTGGGTCATAATCTTGGAATGAATCACGATGATGGG c.1080
F A S I V A H E L G H N L G M N H D D G p.360
. . . . . | 12 . g.49970
AGAGATTGTTCCTGTGGAGCAAAGAGCTGCATCATGAATTCAGGAGCATC | GGGTTCCAGA c.1140
R D C S C G A K S C I M N S G A S | G S R p.380
. . . . . . g.50030
AACTTTAGCAGTTGCAGTGCAGAGGACTTTGAGAAGTTAACTTTAAATAAAGGAGGAAAC c.1200
N F S S C S A E D F E K L T L N K G G N p.400
. . . . . . g.50090
TGCCTTCTTAATATTCCAAAGCCTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAG c.1260
C L L N I P K P D E A Y S A P S C G N K p.420
. . . . | 13 . . g.62513
TTGGTGGACGCTGGGGAAGAGTGTGACTGTGGTACTCCAAAG | GAATGTGAATTGGACCCT c.1320
L V D A G E E C D C G T P K | E C E L D P p.440
. . . . . . g.62573
TGCTGCGAAGGAAGTACCTGTAAGCTTAAATCATTTGCTGAGTGTGCATATGGTGACTGT c.1380
C C E G S T C K L K S F A E C A Y G D C p.460
. | 14 . . . . . g.63636
TGTAAAGACTGTCGG | TTCCTTCCAGGAGGTACTTTATGCCGAGGAAAAACCAGTGAGTGT c.1440
C K D C R | F L P G G T L C R G K T S E C p.480
. . . . . . g.63696
GATGTTCCAGAGTACTGCAATGGTTCTTCTCAGTTCTGTCAGCCAGATGTTTTTATTCAG c.1500
D V P E Y C N G S S Q F C Q P D V F I Q p.500
. . . . . . g.63756
AATGGATATCCTTGCCAGAATAACAAAGCCTATTGCTACAACGGCATGTGCCAGTATTAT c.1560
N G Y P C Q N N K A Y C Y N G M C Q Y Y p.520
. . . | 15 . . . g.79341
GATGCTCAATGTCAAGTCATCTTTGGCTCAA | AAGCCAAGGCTGCCCCCAAAGATTGTTTC c.1620
D A Q C Q V I F G S K | A K A A P K D C F p.540
. . . . . . g.79401
ATTGAAGTGAATTCTAAAGGTGACAGATTTGGCAATTGTGGTTTCTCTGGCAATGAATAC c.1680
I E V N S K G D R F G N C G F S G N E Y p.560
. | 16. . . . . g.85285
AAGAAGTGTGCCACTGG | GAATGCTTTGTGTGGAAAGCTTCAGTGTGAGAATGTACAAGAG c.1740
K K C A T G | N A L C G K L Q C E N V Q E p.580
. . . . . . g.85345
ATACCTGTATTTGGAATTGTGCCTGCTATTATTCAAACGCCTAGTCGAGGCACCAAATGT c.1800
I P V F G I V P A I I Q T P S R G T K C p.600
. . . . . . g.85405
TGGGGTGTGGATTTCCAGCTAGGATCAGATGTTCCAGATCCTGGGATGGTTAACGAAGGC c.1860
W G V D F Q L G S D V P D P G M V N E G p.620
. . | 17 . . . . g.90694
ACAAAATGTGGTGCTGGAAAG | ATCTGTAGAAACTTCCAGTGTGTAGATGCTTCTGTTCTG c.1920
T K C G A G K | I C R N F Q C V D A S V L p.640
. . . . | 18 . . g.91000
AATTATGACTGTGATGTTCAGAAAAAGTGTCATGGACATGGG | GTATGTAATAGCAATAAG c.1980
N Y D C D V Q K K C H G H G | V C N S N K p.660
. . . . . . g.91060
AATTGTCACTGTGAAAATGGCTGGGCTCCCCCAAATTGTGAGACTAAAGGATACGGAGGA c.2040
N C H C E N G W A P P N C E T K G Y G G p.680
. . | 19 . . . g.98093
AGTGTGGACAGTGGACCTACATACAATG | AAATGAATACTGCATTGAGGGACGGACTTCTG c.2100
S V D S G P T Y N E | M N T A L R D G L L p.700
. . . . . . g.98153
GTCTTCTTCTTCCTAATTGTTCCCCTTATTGTCTGTGCTATTTTTATCTTCATCAAGAGG c.2160
V F F F L I V P L I V C A I F I F I K R p.720
. . . . . | 20 . g.99283
GATCAACTGTGGAGAAGCTACTTCAGAAAGAAGAGATCACAAACATATGA | GTCAGATGGC c.2220
D Q L W R S Y F R K K R S Q T Y E | S D G p.740
. . . . . . g.99343
AAAAATCAAGCAAACCCTTCTAGACAGCCGGGGAGTGTTCCTCGACATGTTTCTCCAGTG c.2280
K N Q A N P S R Q P G S V P R H V S P V p.760
. | 21 . . . . g.109919
ACACCTCCCAGAGAAGTT | CCTATATATGCAAACAGATTTGCAGTACCAACCTATGCAGCC c.2340
T P P R E V | P I Y A N R F A V P T Y A A p.780
. . | 22 . . . . g.111655
AAGCAACCTCAGCAGTTCCCATCAAG | GCCACCTCCACCACAACCGAAAGTATCATCTCAG c.2400
K Q P Q Q F P S R | P P P P Q P K V S S Q p.800
. . . . . . g.111715
GGAAACTTAATTCCTGCCCGTCCTGCTCCTGCACCTCCTTTATATAGTTCCCTCACTTGA c.2460
G N L I P A R P A P A P P L Y S S L T X p.819
. . . . . . g.111775
tttttttaaccttctttttgcaaatgtcttcagggaactgagctaatacttttttttttt c.*60
. . . . . . g.111835
cttgatgttttcttgaaaagcctttctgttgcaactatgaatgaaaacaaaacaccacaa c.*120
. . . . . . g.111895
aacagacttcactaacacagaaaaacagaaactgagtgtgagagttgtgaaatacaagga c.*180
. . . . . . g.111955
aatgcagtaaagccagggaatttacaataacatttccgtttccatcattgaataagtctt c.*240
. . . . . . g.112015
attcagtcatcggtgaggttaatgcactaatcatggattttttgaacatgttattgcagt c.*300
. . . . . . g.112075
gattctcaaattaactgtattggtgtaagatttttgtcattaagtgtttaagtgttattc c.*360
. . . . . . g.112135
tgaattttctaccttagttatcattaatgtagttcctcattgaacatgtgataatctaat c.*420
. . . . . . g.112195
acctgtgaaaactgactaatcagctgccaataatatctaatatttttcatcatgcacgaa c.*480
. . . . . . g.112255
ttaataatcatcatactctagaatcttgtctgtcactcactacatgaataagcaaatatt c.*540
. . . . . . g.112315
gtcttcaaaagaatgcacaagaaccacaattaagatgtcatattattttgaaagtacaaa c.*600
. . . . . . g.112375
atatactaaaagagtgtgtgtgtattcacgcagttactcgcttccatttttatgaccttt c.*660
. . . . . . g.112435
caactataggtaataactcttagagaaattaatttaatattagaatttctattatgaatc c.*720
. . . . . . g.112495
atgtgaaagcatgacattcgttcacaatagcactattttaaataaattataagctttaag c.*780
. . . . . . g.112555
gtacgaagtatttaatagatctaatcaaatatgttgattcatggctataataaagcagga c.*840
. . . . . . g.112615
gcaattataaaatcttcaatcaattgaacttttacaaaaccacttgagaatttcatgagc c.*900
. . . . . . g.112675
actttaaaatctgaactttcaaagcttgctattaaatcatttagaatgtttacatttact c.*960
. . . . . . g.112735
aaggtgtgctgggtcatgtaaaatattagacactaatattttcatagaaattaggctgga c.*1020
. . . . . . g.112795
gaaagaaggaagaaatggttttcttaaatacctacaaaaaagttactgtggtatctatga c.*1080
. . . . . . g.112855
gttatcatcttagctgtgttaaaaatgaatttttactatggcagatatggtatggatcgt c.*1140
. . . . . . g.112915
aaaattttaagcactaaaaattttttcataacctttcataataaagtttaataataggtt c.*1200
. . . . . . g.112975
tattaactgaatttcattagttttttaaaagtgtttttggtttgtgtatatatacatata c.*1260
. . . . . . g.113035
caaatacaacatttacaataaataaaatacttgaaattctcttttgtgtctcctagtagc c.*1320
. . . . . . g.113095
ttcctactcaactatttataatctcattaattaaaaagttataattttagataaaaattc c.*1380
. . . . . . g.113155
tagtcaaatttttacagatattatctcactaattttcagacttttgccaaagtgtgcaca c.*1440
. . . . . . g.113215
atggctttttgttaataaagaacagattagttttgaagaaggcaaaaatttcagttttct c.*1500
. . . . . . g.113275
gaagacagcatgttattttaacaatcaagtatacatattaaaaattgtgagcaatctcaa c.*1560
g.113276
a c.*1561
(downstream sequence)
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