(used for variant description)
(last modified March 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002381.4 in the MATN3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008087.1, covering MATN3 transcript NM_002381.4.
(upstream sequence)
g.5003
aaa c.-61
. . . . . . g.5063
tccgagcctcgcgtgggctcctggcccccgacggacaccaccaggcccacggagcccacc c.-1
. . . . . . g.5123
ATGCCGCGCCCGGCCCCCGCGCGCCGCCTCCCGGGACTCCTCCTGCTGCTCTGGCCGCTG c.60
M P R P A P A R R L P G L L L L L W P L p.20
. . . . . . g.5183
CTGCTGCTGCCCTCCGCCGCCCCCGACCCCGTGGCCCGCCCGGGCTTCCGGAGGCTGGAG c.120
L L L P S A A P D P V A R P G F R R L E p.40
. . . . . . g.5243
ACCCGAGGTCCCGGGGGCAGCCCTGGACGCCGCCCCTCTCCTGCGGCTCCCGACGGCGCG c.180
T R G P G G S P G R R P S P A A P D G A p.60
. . . . | 02 . . g.11401
CCCGCTTCCGGGACCAGCGAGCCTGGCCGCGCCCGCGGTGCAG | GTGTTTGCAAGAGCAGA c.240
P A S G T S E P G R A R G A G | V C K S R p.80
. . . . . . g.11461
CCCTTGGACCTGGTGTTTATCATTGATAGTTCTCGTAGCGTACGGCCCCTGGAATTCACC c.300
P L D L V F I I D S S R S V R P L E F T p.100
. . . . . . g.11521
AAAGTGAAAACTTTTGTCTCCCGGATAATCGACACTCTGGACATTGGGCCAGCCGACACG c.360
K V K T F V S R I I D T L D I G P A D T p.120
. . . . . . g.11581
CGGGTGGCAGTGGTGAACTATGCTAGCACTGTGAAGATCGAGTTCCAACTCCAGGCCTAC c.420
R V A V V N Y A S T V K I E F Q L Q A Y p.140
. . . . . . g.11641
ACAGATAAGCAGTCCCTGAAGCAGGCCGTGGGTCGAATCACACCCTTGTCAACAGGCACC c.480
T D K Q S L K Q A V G R I T P L S T G T p.160
. . . . . . g.11701
ATGTCAGGCCTAGCCATCCAGACAGCAATGGACGAAGCCTTCACAGTGGAGGCAGGGGCT c.540
M S G L A I Q T A M D E A F T V E A G A p.180
. . . . . . g.11761
CGAGAGCCCTCTTCTAACATCCCTAAGGTGGCCATCATTGTTACAGATGGGAGGCCCCAG c.600
R E P S S N I P K V A I I V T D G R P Q p.200
. . . . . . g.11821
GACCAGGTGAATGAGGTGGCGGCTCGGGCCCAAGCATCTGGTATTGAGCTCTATGCTGTG c.660
D Q V N E V A A R A Q A S G I E L Y A V p.220
. . . . . . g.11881
GGCGTGGACCGGGCAGACATGGCGTCCCTCAAGATGATGGCCAGTGAGCCCCTAGAGGAG c.720
G V D R A D M A S L K M M A S E P L E E p.240
. . . . . . g.11941
CATGTTTTCTACGTGGAGACCTATGGGGTCATTGAGAAACTTTCCTCTAGATTCCAGGAA c.780
H V F Y V E T Y G V I E K L S S R F Q E p.260
. | 03 . . . . . g.14458
ACCTTCTGTG | CGCTGGACCCCTGTGTGCTTGGAACACACCAGTGCCAGCACGTCTGCATC c.840
T F C A | L D P C V L G T H Q C Q H V C I p.280
. . . . . . g.14518
AGTGATGGGGAAGGCAAGCACCACTGTGAGTGTAGCCAAGGATACACCTTGAATGCCGAC c.900
S D G E G K H H C E C S Q G Y T L N A D p.300
. | 04 . . . . . g.15658
AAGAAAACGTGTTCAG | CTCTTGATAGGTGTGCTCTTAACACCCACGGATGTGAGCACATC c.960
K K T C S A | L D R C A L N T H G C E H I p.320
. . . . . . g.15718
TGTGTGAATGACAGAAGTGGCTCTTATCATTGTGAGTGCTATGAAGGTTATACCTTGAAT c.1020
C V N D R S G S Y H C E C Y E G Y T L N p.340
. . | 05 . . . . g.17166
GAAGACAGGAAAACTTGTTCAG | CTCAAGATAAATGTGCTTTGGGTACCCATGGGTGTCAG c.1080
E D R K T C S A | Q D K C A L G T H G C Q p.360
. . . . . . g.17226
CACATTTGTGTGAATGACAGAACAGGGTCCCATCATTGTGAATGCTATGAGGGCTACACT c.1140
H I C V N D R T G S H H C E C Y E G Y T p.380
. . | 06 . . . g.20467
CTGAATGCAGATAAAAAAACATGTTCAG | TCCGTGACAAGTGTGCCCTAGGCTCTCATGGT c.1200
L N A D K K T C S V | R D K C A L G S H G p.400
. . . . . . g.20527
TGCCAGCACATTTGTGTGAGTGATGGGGCCGCATCCTACCACTGTGATTGCTATCCTGGC c.1260
C Q H I C V S D G A A S Y H C D C Y P G p.420
. . . | 07 . . . g.23311
TACACCTTAAATGAGGACAAGAAAACATGTTCAG | CCACTGAGGAAGCACGAAGACTTGTT c.1320
Y T L N E D K K T C S A | T E E A R R L V p.440
. . . . . . g.23371
TCCACTGAAGATGCTTGTGGATGTGAAGCTACACTGGCATTCCAGGACAAGGTCAGCTCG c.1380
S T E D A C G C E A T L A F Q D K V S S p.460
. . | 08 . . . . g.24563
TATCTTCAAAGACTGAACACTAAAC | TTGATGACATTTTGGAGAAGTTGAAAATAAATGAA c.1440
Y L Q R L N T K L | D D I L E K L K I N E p.480
. . g.24584
TATGGACAAATACATCGTTAA c.1461
Y G Q I H R X p.486
. . . . . . g.24644
attgctccaatttctcacctgaaaatgtggacagcttggtgtacttaatactcatgcatt c.*60
. . . . . . g.24704
cttttgcacacctgttattgccaatgttcctgctaataatttgccattatctgtattaat c.*120
. . . . . . g.24764
gcttgaatattactggataaattgtatgaagatcttctgcagaatcagcatgattcttcc c.*180
. . . . . . g.24824
aaggaaatacatatgcagatacttattaagagcaaactttagtgtctctaagttatgact c.*240
. . . . . . g.24884
gtgaaatgattggtaggaaatagaatgaaaagtttagtgtttctttatctactaattgag c.*300
. . . . . . g.24944
ccatttaatttttaaatgtttatattagataaccatattcacaatggaaactttaggtct c.*360
. . . . . . g.25004
agtttcttttgatagtatttataatataaatcaatcttattactgagagtgcaaattgta c.*420
. . . . . . g.25064
caaggtatttacacatacaacttcatataactgagatgaatgtaattttgaactgtttaa c.*480
. . . . . . g.25124
cactttttgttttttgcttattttgttggagtattattgaagatgtgatcaatagattgt c.*540
. . . . . . g.25184
aatacacatatctaaaaatagttaacacagatcaagtgaacattacattgccatttttaa c.*600
. . . . . . g.25244
ttcattctggtctttgaaagaaatgtactactaaagagcactagttgtgaatttagggtg c.*660
. . . . . . g.25304
ttaaactttttaccaagtacaaaaatcccaaattcactttattattttgcttcaggatcc c.*720
. . . . . . g.25364
aagtgacaaagttatatatttataaaattgctataaatcgacaaaatctaatgttgtctt c.*780
. . . . . . g.25424
tttaatgttagtgatccacctgcctcagcctcccaaagtgctgggattacaggcttgaaa c.*840
. . . . . . g.25484
gtctaacttttttttacttatatatttgatacatataattcttttggctttgaaacttgc c.*900
. . . . . . g.25544
aactttgagaacaaaacagtcctttaaattttgcactgctcaattctgtttttcgtttgc c.*960
. . . . . . g.25604
attgtctttaatataataaaagttattacctttacatattatcatgtctatttttgatga c.*1020
. . . g.25643
ctcatcaattttgtctattaaagatatttctttaaatta c.*1059
(downstream sequence)
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