(used for variant description)
(last modified March 21, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_147191.1 in the MMP21 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering MMP21 transcript NM_147191.1.
(upstream sequence)
. . . . . . g.60
ATGCTCGCCGCCTCCATCTTCCGTCCGACACTGCTGCTCTGCTGGCTGGCTGCTCCCTGG c.60
M L A A S I F R P T L L L C W L A A P W p.20
. . . . . . g.120
CCCACCCAGCCCGAGAGTCTCTTCCACAGCCGGGACCGCTCGGACCTGGAGCCGTCCCCA c.120
P T Q P E S L F H S R D R S D L E P S P p.40
. . . . | 02 . . g.1474
CTGCGCCAGGCCAAGCCCATTGCCGACCTCCACGCTGCTCAG | CGGTTCCTGTCCAGATAC c.180
L R Q A K P I A D L H A A Q | R F L S R Y p.60
. . . . . . g.1534
GGCTGGTCAGGGGTGTGGGCGGCCTGGGGGCCCAGTCCCGAGGGGCCGCCGGAGACCCCC c.240
G W S G V W A A W G P S P E G P P E T P p.80
. . . . . . g.1594
AAGGGCGCCGCCCTGGCCGAGGCGGTGCGCAGGTTCCAGCGGGCGAACGCGCTGCCGGCC c.300
K G A A L A E A V R R F Q R A N A L P A p.100
. . . . . . g.1654
AGCGGGGAGCTGGACGCGGCCACCCTAGCGGCCATGAACCGGCCGCGCTGCGGGGTCCCG c.360
S G E L D A A T L A A M N R P R C G V P p.120
. . . . . . g.1714
GACATGCGCCCACCGCCCCCCTCCGCCCCGCCTTCGCCCCCGGGCCCGCCCCCCAGAGCC c.420
D M R P P P P S A P P S P P G P P P R A p.140
. . . . . . g.1774
CGCTCCAGGCGCTCCCCGCGGGCGCCGCTGTCCTTGTCCCGGCGGGGTTGGCAGCCCCGG c.480
R S R R S P R A P L S L S R R G W Q P R p.160
. . . . . . g.1834
GGCTACCCCGACGGCGGAGCTGCCCAGGCCTTCTCCAAGAGGACGCTGAGCTGGCGGCTG c.540
G Y P D G G A A Q A F S K R T L S W R L p.180
. . . . . . g.1894
CTGGGCGAGGCCCTGAGCAGCCAACTGTCCGTGGCCGACCAGCGGCGCATTGTGGCGCTG c.600
L G E A L S S Q L S V A D Q R R I V A L p.200
. . . . . . g.1954
GCCTTCAGGATGTGGAGCGAGGTGACGCCGCTGGACTTCCGCGAGGACCTGGCCGCCCCC c.660
A F R M W S E V T P L D F R E D L A A P p.220
. . . | 03. . . g.3094
GGGGCCGCGGTCGACATCAAGCTGGGCTTTGGGAGAG | GCCGGCACCTGGGCTGTCCGCGG c.720
G A A V D I K L G F G R G | R H L G C P R p.240
. . . . . . g.3154
GCCTTCGATGGGAGCGGGCAGGAGTTTGCACACGCCTGGCGCCTAGGTGACATTCACTTT c.780
A F D G S G Q E F A H A W R L G D I H F p.260
. . . . . | 04. g.3465
GACGACGACGAGCACTTCACACCTCCCACCAGTGACACGGGCATCAGCCTTCTCAAG | GTG c.840
D D D E H F T P P T S D T G I S L L K | V p.280
. . . . . . g.3525
GCCGTCCATGAAATTGGCCATGTCCTGGGCTTGCCTCACACCTACAGGACGGGATCCATA c.900
A V H E I G H V L G L P H T Y R T G S I p.300
. . . . . . g.3585
ATGCAACCAAATTACATTCCCCAGGAGCCTGCCTTTGAGTTGGACTGGTCAGACAGGAAA c.960
M Q P N Y I P Q E P A F E L D W S D R K p.320
. | 05 . . . . g.5271
GCAATTCAAAAGCTGTATG | GCTCCTGTGAGGGATCATTTGATACTGCGTTTGACTGGATT c.1020
A I Q K L Y G | S C E G S F D T A F D W I p.340
. . . . . . g.5331
CGCAAAGAGAGAAACCAATATGGAGAGGTGATGGTGAGATTTAGCACATATTTCTTCCGT c.1080
R K E R N Q Y G E V M V R F S T Y F F R p.360
. . . . . . g.5391
AACAGCTGGTACTGGCTTTATGAAAATCGAAACAATAGGACACGCTATGGGGACCCTATC c.1140
N S W Y W L Y E N R N N R T R Y G D P I p.380
. . . . . . g.5451
CAAATCCTCACTGGCTGGCCTGGAATCCCAACACACAACATAGATGCCTTTGTTCACATC c.1200
Q I L T G W P G I P T H N I D A F V H I p.400
. . . | 06. . . g.8140
TGGACATGGAAAAGAGATGAACGTTATTTTTTTCAAG | GAAATCAATACTGGAGATATGAC c.1260
W T W K R D E R Y F F Q G | N Q Y W R Y D p.420
. . . . . . g.8200
AGTGACAAGGATCAGGCCCTCACAGAAGATGAACAAGGAAAAAGCTATCCCAAATTGATT c.1320
S D K D Q A L T E D E Q G K S Y P K L I p.440
. . . . . . g.8260
TCAGAAGGATTTCCTGGCATCCCAAGTCCCCTAGACACGGCGTTTTATGACCGAAGACAG c.1380
S E G F P G I P S P L D T A F Y D R R Q p.460
. . . | 07 . . . g.8890
AAGTTAATTTACTTCTTCAAGGAGTCCCTT | GTATTTGCATTTGATGTCAACAGAAATCGA c.1440
K L I Y F F K E S L | V F A F D V N R N R p.480
. . . . . . g.8950
GTACTTAATTCTTATCCAAAGAGGATTACTGAAGTTTTTCCAGCAGTAATACCACAAAAT c.1500
V L N S Y P K R I T E V F P A V I P Q N p.500
. . . . . . g.9010
CATCCTTTCAGAAATATAGATTCCGCTTATTACTCCTATGCATACAACTCCATTTTCTTT c.1560
H P F R N I D S A Y Y S Y A Y N S I F F p.520
. . . . . . g.9070
TTCAAAGGCAATGCATACTGGAAGGTAGTTAATGACAAGGACAAACAACAGAATTCCTGG c.1620
F K G N A Y W K V V N D K D K Q Q N S W p.540
. . . . . . g.9130
CTTCCTGCTAATGGCTTATTTCCAAAAAAGTTTATTTCAGAGAAGTGGTTTGATGTTTGT c.1680
L P A N G L F P K K F I S E K W F D V C p.560
. . . g.9160
GACGTCCATATCTCCACACTGAACATGTAA c.1710
D V H I S T L N M X p.569
. . . . . . g.9220
taagaaaaagtaggaaatggagggtcataggacttcgctaaaattctgatactgtttaca c.*60
. . . . . . g.9280
aagaaaaccggattttcagtagctgaagaaaatatggcactgtaagttaaaacccaatgg c.*120
. . . . . . g.9340
gaaaagccttagttgaacttttaaaatacttgatttaaaaacaattgctcaggcaaaaca c.*180
. . g.9369
taattcataaactaaaaggtttaaaaaaa c.*209
(downstream sequence)
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