(used for variant description)
(last modified March 11, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002427.3 in the MMP13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering MMP13 transcript NM_002427.3.
(upstream sequence)
. . g.5029
acaacagtccccaggcatcaccattcaag c.-1
. . . . . . g.5089
ATGCATCCAGGGGTCCTGGCTGCCTTCCTCTTCTTGAGCTGGACTCATTGTCGGGCCCTG c.60
M H P G V L A A F L F L S W T H C R A L p.20
. . . . . . g.5149
CCCCTTCCCAGTGGTGGTGATGAAGATGATTTGTCTGAGGAAGACCTCCAGTTTGCAGAG c.120
P L P S G G D E D D L S E E D L Q F A E p.40
| 02 . . . . . . g.5301
| CGCTACCTGAGATCATACTACCATCCTACAAATCTCGCGGGAATCCTGAAGGAGAATGCA c.180
| R Y L R S Y Y H P T N L A G I L K E N A p.60
. . . . . . g.5361
GCAAGCTCCATGACTGAGAGGCTCCGAGAAATGCAGTCTTTCTTCGGCTTAGAGGTGACT c.240
A S S M T E R L R E M Q S F F G L E V T p.80
. . . . . . g.5421
GGCAAACTTGACGATAACACCTTAGATGTCATGAAAAAGCCAAGATGCGGGGTTCCTGAT c.300
G K L D D N T L D V M K K P R C G V P D p.100
. . . . . . g.5481
GTGGGTGAATACAATGTTTTCCCTCGAACTCTTAAATGGTCCAAAATGAATTTAACCTAC c.360
V G E Y N V F P R T L K W S K M N L T Y p.120
| 03 . . . . . . g.6186
AG | AATTGTGAATTACACCCCTGATATGACTCATTCTGAAGTCGAAAAGGCATTCAAAAAA c.420
R | I V N Y T P D M T H S E V E K A F K K p.140
. . . . . . g.6246
GCCTTCAAAGTTTGGTCCGATGTAACTCCTCTGAATTTTACCAGACTTCACGATGGCATT c.480
A F K V W S D V T P L N F T R L H D G I p.160
. . . | 04 . . . g.6482
GCTGACATCATGATCTCTTTTGGAATTAAGG | AGCATGGCGACTTCTACCCATTTGATGGG c.540
A D I M I S F G I K E | H G D F Y P F D G p.180
. . . . . . g.6542
CCCTCTGGCCTGCTGGCTCATGCTTTTCCTCCTGGGCCAAATTATGGAGGAGATGCCCAT c.600
P S G L L A H A F P P G P N Y G G D A H p.200
. . . | 05. . . g.8584
TTTGATGATGATGAAACCTGGACAAGTAGTTCCAAAG | GCTACAACTTGTTTCTTGTTGCT c.660
F D D D E T W T S S S K G | Y N L F L V A p.220
. . . . . . g.8644
GCGCATGAGTTCGGCCACTCCTTAGGTCTTGACCACTCCAAGGACCCTGGAGCACTCATG c.720
A H E F G H S L G L D H S K D P G A L M p.240
. . . . . . g.8704
TTTCCTATCTACACCTACACCGGCAAAAGCCACTTTATGCTTCCTGATGACGATGTACAA c.780
F P I Y T Y T G K S H F M L P D D D V Q p.260
. | 06 . . . . g.10548
GGGATCCAGTCTCTCTATG | GTCCAGGAGATGAAGACCCCAACCCTAAACATCCAAAAACG c.840
G I Q S L Y G | P G D E D P N P K H P K T p.280
. . . . . . g.10608
CCAGACAAATGTGACCCTTCCTTATCCCTTGATGCCATTACCAGTCTCCGAGGAGAAACA c.900
P D K C D P S L S L D A I T S L R G E T p.300
. | 07. . . . . g.11619
ATGATCTTTAAAGACAG | ATTCTTCTGGCGCCTGCATCCTCAGCAGGTTGATGCGGAGCTG c.960
M I F K D R | F F W R L H P Q Q V D A E L p.320
. . . . . . g.11679
TTTTTAACGAAATCATTTTGGCCAGAACTTCCCAACCGTATTGATGCTGCATATGAGCAC c.1020
F L T K S F W P E L P N R I D A A Y E H p.340
. . . | 08 . . . g.12713
CCTTCTCATGACCTCATCTTCATCTTCAGAG | GTAGAAAATTTTGGGCTCTTAATGGTTAT c.1080
P S H D L I F I F R G | R K F W A L N G Y p.360
. . . . . . g.12773
GACATTCTGGAAGGTTATCCCAAAAAAATATCTGAACTGGGTCTTCCAAAAGAAGTTAAG c.1140
D I L E G Y P K K I S E L G L P K E V K p.380
. . . . . . g.12833
AAGATAAGTGCAGCTGTTCACTTTGAGGATACAGGCAAGACTCTCCTGTTCTCAGGAAAC c.1200
K I S A A V H F E D T G K T L L F S G N p.400
. | 09 . . . . . g.15034
CAGGTCTGGAG | ATATGATGATACTAACCATATTATGGATAAAGACTATCCGAGACTAATA c.1260
Q V W R | Y D D T N H I M D K D Y P R L I p.420
. . . . . | 10 . g.16373
GAAGAAGACTTCCCAGGAATTGGTGATAAAGTAGATGCTGTCTATGAGAAAAATG | GTTAT c.1320
E E D F P G I G D K V D A V Y E K N G | Y p.440
. . . . . . g.16433
ATCTATTTTTTCAACGGACCCATACAGTTTGAATACAGCATCTGGAGTAACCGTATTGTT c.1380
I Y F F N G P I Q F E Y S I W S N R I V p.460
. . . g.16469
CGCGTCATGCCAGCAAATTCCATTTTGTGGTGTTAA c.1416
R V M P A N S I L W C X p.471
. . . . . . g.16529
gtgtctttttaaaaattgttatttaaatcctgaagagcatttggggtaatacttccagaa c.*60
. . . . . . g.16589
gtgcggggtaggggaagaagagctatcaggagaaagcttggttctgtgaacaagcttcag c.*120
. . . . . . g.16649
taagttatctttgaatatgtagtatctatatgactatgcgtggctggaaccacattgaag c.*180
. . . . . . g.16709
aatgttagagtaatgaaatggaggatctctaaagagcatctgattcttgttgctgtacaa c.*240
. . . . . . g.16769
aagcaatggttgatgatacttcccacaccacaaatgggacacatggtctgtcaatgagag c.*300
. . . . . . g.16829
cataatttaaaaatatatttataaggaaattttacaagggcataaagtaaatacatgcat c.*360
. . . . . . g.16889
ataatgaataaatcattcttactaaaaagtataaaatagtatgaaaatggaaatttggga c.*420
. . . . . . g.16949
gagccatacataaaagaaataaaccaaaggaaaatgtctgtaataatagactgtaacttc c.*480
. . . . . . g.17009
caaataaataattttcattttgcactgaggatattcagatgtatgtgcccttcttcacac c.*540
. . . . . . g.17069
agacactaacgaaatatcaaagtcattaaagacaggagacaaaagagcagtggtaagaat c.*600
. . . . . . g.17129
agtagatgtggcctttgaattctgtttaattttcacttttggcaatgactcaaagtctgc c.*660
. . . . . . g.17189
tctcatataagacaaatattcctttgcatattataaaggataaagaaggatgatgtcttt c.*720
. . . . . . g.17249
ttattaaaatatttcaggttcttcagaagtcacacattacaaagttaaaattgttatcaa c.*780
. . . . . . g.17309
aatagtctaaggccatggcatccctttttcataaattatttgattatttaagactaaaag c.*840
. . . . . . g.17369
ttgcattttaaccctattttacctagctaattatttaattgtccagtttgtcttggatat c.*900
. . . . . . g.17429
ataggctattttctaaagacttgtatagcatgaaataaaatatatcttataaagtggaag c.*960
. . . . . . g.17489
tatgtatattaaaaaagagacatccaaatttttttttaaagcagtctactagattgtgat c.*1020
. . . . . . g.17549
cccttgagatatggaaggatgcctttttttctctgcatttaaaaaaatcccccagcactt c.*1080
. . . . . . g.17609
cccacagtgcctattgatacttggggagggtgcttggcacttattgaatatatgatcggc c.*1140
. . . . . . g.17669
catcaagggaagaactattgtgctcagagacactgttgataaaaactcaggcaaagaaaa c.*1200
. . . . . . g.17729
tgaaatgcatatttgcaaagtgtattaggaagtgtttatgttgtttataataaaaatata c.*1260
. g.17743
ttttcaacagacaa c.*1274
(downstream sequence)
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