(used for mutation description)
(last modified March 21, 2010)
This file was created to facilitate the description of sequence variants in the MATR3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012846.1, covering MATR3 transcript variant 1 (NM_199189.2). Transcript variant 2 (NM_018834.4) initiaties at an alternative promoter/exon 01b in intron 04.
Please note that introns are available by clicking on the exon numbers above the sequence.(upstream sequence)
gcagcaacggaaaggcgccacgctcgtgagcggaaccagcgttccgggggcgctcagt c.-721
. . . . . . g.4767
gtgggcaggcaggaagcctggctccactaggacacacagattctctcctgagcagctgcg c.-661
. . . . . . g.4827
aactatgcgccccttctacccttaagagatgggatgggagtccaacaaacccagccattg c.-601
. . . . . . g.4887
ctcagaccccagcccttctctcctctaagaagcaggttcacctctgccaccgcactcgca c.-541
. . . . . . g.4947
tttttttttttttttaaagcccggcctttcctaggcggggtcaagggccccgcccaccga c.-481
. . . . . . g.5007
agccacgcccagtagccgccccggggcggggttcccctcggctcccggctgccctttccc c.-421
. . . . . . | 02 g.7026
ctccggcctctgccggtgctgctgcgccctgcggagctccgaacacgtgcgc | agaggctg c.-361
. . . | 03 . . . g.9262
gctgtggcagatgcaactgcag | gatgacttgaaagtagggcatccttcacccatctgaag c.-301
. . . . . | 04 . g.9964
ggaggaaatagtggcaggtgacagtctgcatgtgcagttttcag | atgccttcacctgaat c.-241
. . . . . . g.10024
gacatctacctccatcaggaccccagatgtctgacagccctgtgtgacaccaagataagt c.-181
. | 05 . . . . . g.38193
aac | agttgtctgctggttctcagcttgaagaagattctgcagtccttattgatccttttt c.-121
^ intron contains alternative promoter/exon 01b (non-coding)
. . . . . . g.38253
cttggcgttaccatttttgaagcaaagttaacctagctttctagtttgagctttcttttt c.-61
. . . . . . g.38313
ggccgtctttaaaaaaatttttttttttaatctataaaatagacaagagctagttctaca c.-1
. . . . . . g.38373
ATGTCCAAGTCATTCCAGCAGTCATCTCTCAGTAGGGACTCACAGGGTCATGGGCGTGAC c.60
M S K S F Q Q S S L S R D S Q G H G R D p.20
. . . . . . g.38433
CTGTCTGCGGCAGGAATAGGCCTTCTTGCTGCTGCTACCCAGTCTTTAAGTATGCCAGCA c.120
L S A A G I G L L A A A T Q S L S M P A p.40
. . . . . . g.38493
TCTCTTGGAAGGATGAACCAGGGTACTGCACGCCTTGCTAGTTTAATGAATCTTGGAATG c.180
S L G R M N Q G T A R L A S L M N L G M p.60
. . . . . . g.38553
AGTTCTTCATTGAATCAACAAGGAGCTCATAGTGCACTGTCTTCTGCTAGTACTTCTTCC c.240
S S S L N Q Q G A H S A L S S A S T S S p.80
. . . . . . g.38613
CATAATTTGCAGTCTATATTTAACATTGGAAGTAGAGGTCCACTCCCTTTATCTTCTCAA c.300
H N L Q S I F N I G S R G P L P L S S Q p.100
. . . . . . g.38673
CACCGTGGAGATGCAGACCAGGCCAGTAACATTTTGGCCAGCTTTGGTCTGTCTGCTAGA c.360
H R G D A D Q A S N I L A S F G L S A R p.120
. . . . . . g.38733
GACTTAGATGAACTGAGTCGTTATCCAGAGGACAAGATTACTCCTGAGAATTTGCCCCAA c.420
D L D E L S R Y P E D K I T P E N L P Q p.140
. . . . . . g.38793
ATCCTTCTACAGCTTAAAAGGAGGAGAACTGAAGAAGGCCCTACCTTGAGTTATGGTAGA c.480
I L L Q L K R R R T E E G P T L S Y G R p.160
. . . . . . g.38853
GATGGCAGATCTGCTACACGGGAGCCACCATACAGAGTACCTAGGGATGATTGGGAAGAA c.540
D G R S A T R E P P Y R V P R D D W E E p.180
. . . . . . g.38913
AAAAGGCACTTTAGAAGAGATAGTTTTGATGATCGTGGTCCTAGTCTCAACCCAGTGCTT c.600
K R H F R R D S F D D R G P S L N P V L p.200
. . . . . . g.38973
GATTATGACCATGGAAGTCGTTCTCAAGAATCTGGTTATTATGACAGAATGGATTATGAA c.660
D Y D H G S R S Q E S G Y Y D R M D Y E p.220
. . . . . . g.39033
GATGACAGATTAAGAGATGGAGAAAGGTGTAGGGATGATTCTTTTTTTGGTGAGACCTCG c.720
D D R L R D G E R C R D D S F F G E T S p.240
. . . . . . g.39093
CATAACTATCATAAATTTGACAGTGAGTATGAGAGAATGGGACGTGGTCCTGGCCCCTTA c.780
H N Y H K F D S E Y E R M G R G P G P L p.260
. . . . . . g.39153
CAAGAGAGATCTCTCTTTGAGAAAAAGAGAGGCGCTCCTCCAAGTAGCAATATTGAAGAC c.840
Q E R S L F E K K R G A P P S S N I E D p.280
. . . . . . g.39213
TTCCATGGACTCTTACCGAAGGGTTATCCCCATCTGTGCTCTATATGTGATTTGCCAGTT c.900
F H G L L P K G Y P H L C S I C D L P V p.300
. | 06 . . . . . g.45620
CATTCTAATAAG | GAGTGGAGTCAACATATCAATGGAGCAAGTCACAGTCGTCGATGCCAG c.960
H S N K | E W S Q H I N G A S H S R R C Q p.320
. | 07 . . . . | 08 . g.46977
CTTCTTCTTGAAAT | CTACCCAGAATGGAATCCTGACAATGATACAGGACACACAAT | GGGT c.1020
L L L E I | Y P E W N P D N D T G H T M | G p.340
. . . . . . g.47037
GATCCATTCATGTTGCAGCAGTCTACAAATCCAGCACCAGGAATTCTGGGACCTCCACCT c.1080
D P F M L Q Q S T N P A P G I L G P P P p.360
. . . . | 09 . g.47961
CCCTCATTTCATCTTGGGGGACCAGCAGTTGGACCAAGAGGAAATCTGG | GTGCTGGAAAT c.1140
P S F H L G G P A V G P R G N L G | A G N p.380
. . . . | 10 . . g.48511
GGAAACCTGCAAGGACCTAGACACATGCAGAAAGGCAGAGTG | GAAACTAGCAGAGTTGTT c.1200
G N L Q G P R H M Q K G R V | E T S R V V p.400
. . . . . . g.48571
CACATCATGGATTTTCAACGAGGGAAAAACTTGAGATACCAGCTATTACAGCTGGTAGAA c.1260
H I M D F Q R G K N L R Y Q L L Q L V E p.420
. . . . | 11 . g.49817
CCATTTGGAGTCATTTCAAATCATCTGATTCTAAATAAAATTAATGAG | GCATTTATTGAA c.1320
P F G V I S N H L I L N K I N E | A F I E p.440
. . . . . . g.49877
ATGGCAACCACAGAGGATGCTCAGGCCGCAGTGGATTATTACACAACCACACCAGCGTTA c.1380
M A T T E D A Q A A V D Y Y T T T P A L p.460
. . . . . | 12 . g.50237
GTATTTGGCAAGCCAGTGAGAGTTCATTTATCCCAGAAGTATAAAAGAATAAAG | AAACCT c.1440
V F G K P V R V H L S Q K Y K R I K | K P p.480
. . . . . . g.50297
GAAGGAAAGCCAGATCAGAAGTTTGATCAAAAGCAAGAGCTTGGACGTGTGATACATCTC c.1500
E G K P D Q K F D Q K Q E L G R V I H L p.500
. . . . . . g.50357
AGCAATTTGCCGCATTCTGGCTATTCTGATAGTGCTGTTCTCAAGCTTGCTGAGCCTTAT c.1560
S N L P H S G Y S D S A V L K L A E P Y p.520
. . . . | 13 . . g.52813
GGGAAAATAAAGAATTACATATTGATGAGGATGAAAAGTCAG | GCTTTTATTGAGATGGAG c.1620
G K I K N Y I L M R M K S Q | A F I E M E p.540
. . . . . . g.52873
ACAAGAGAAGATGCAATGGCAATGGTTGACCATTGTTTGAAAAAAGCCCTTTGGTTTCAG c.1680
T R E D A M A M V D H C L K K A L W F Q p.560
. . . . . | 14 . g.53366
GGGAGATGTGTGAAGGTTGACCTGTCTGAGAAATATAAAAAACTGGTTCTGAGG | ATTCCA c.1740
G R C V K V D L S E K Y K K L V L R | I P p.580
. . . | 15 . . g.53517
AACAGAGGCATTGATTTACTGAAAAAAGATAAATCCCG | AAAAAGATCTTACTCTCCAGAT c.1800
N R G I D L L K K D K S R | K R S Y S P D p.600
. . . . . . g.53577
GGCAAAGAATCTCCAAGTGATAAGAAATCCAAAACTGATGGTTCCCAGAAGACTGAGAGT c.1860
G K E S P S D K K S K T D G S Q K T E S p.620
. . . . . . g.53637
TCAACCGAAGGTAAAGAACAAGAAGAGAAGTCCGGTGAAGATGGTGAGAAAGACACAAAG c.1920
S T E G K E Q E E K S G E D G E K D T K p.640
. . . . . . g.53697
GATGACCAGACAGAGCAGGAACCTAATATGCTTCTTGAATCTGAAGATGAGCTACTTGTA c.1980
D D Q T E Q E P N M L L E S E D E L L V p.660
. . . . . . g.53757
GATGAAGAAGAAGCAGCAGCACTGCTAGAAAGTGGCAGTTCAGTGGGAGACGAGACCGAT c.2040
D E E E A A A L L E S G S S V G D E T D p.680
. . . . . . g.53817
CTTGCTAATTTAGGTGATGTGGCTTCTGATGGGAAAAAGGAACCATCAGATAAAGCTGTG c.2100
L A N L G D V A S D G K K E P S D K A V p.700
. . . . | 16 . g.56349
AAAAAAGATGGAAGTGCTTCAGCAGCAGCAAAGAAAAAGCTTAAAAAG | GTGGACAAGATC c.2160
K K D G S A S A A A K K K L K K | V D K I p.720
. . . . . . g.56409
GAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAAC c.2220
E E L D Q E N E A A L E N G I K N E E N p.740
. . . . . . g.56469
ACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAACAAAGATACAAGTGAA c.2280
T E P G A E S S E N A D D P N K D T S E p.760
. . . . . . g.56529
AACGCAGATGGTCAAAGTGATGAGAACAAGGACGACTATACAATCCCAGATGAGTATAGA c.2340
N A D G Q S D E N K D D Y T I P D E Y R p.780
. . . | 17 . . . g.57089
ATTGGACCATATCAGCCCAATGTTCCTGTTG | GTATAGACTATGTGATACCTAAAACAGGG c.2400
I G P Y Q P N V P V G | I D Y V I P K T G p.800
. . . . . . g.57149
TTTTACTGTAAGCTGTGTTCACTCTTTTATACAAATGAAGAAGTTGCAAAGAATACTCAT c.2460
F Y C K L C S L F Y T N E E V A K N T H p.820
. . . | 18 . . . g.60269
TGCAGCAGCCTTCCTCATTATCAGAAATTAAAG | AAATTTCTGAATAAATTGGCAGAAGAA c.2520
C S S L P H Y Q K L K | K F L N K L A E E p.840
. . g.60293
CGCAGACAGAAGAAGGAAACTTAA c.2544
R R Q K K E T X p.847
. . . . . . g.60353
gatgtgcaaggagatttaatgatttcaaagaaaataatggttctttgtttttaatgttaa c.*60
. . . . . . g.60413
ccttttttaaatacaatactgatagttagaagaaaactattgtactcttttgttttagtg c.*120
. . . . . . g.60473
gagaaataatagatgtctgttcatgtgttaagtgttatagcaaaaaaaatacacatatgg c.*180
. . . . . . g.60533
ttaagttaatgaatagtttttgttttatcagaatggcaacagacagaagtactttgtaga c.*240
. . . . . . g.60593
gattgacttcctaagctacttaagacaacttgcaccactaagaaaaaaatgtagaaccat c.*300
. . . . . . g.60653
ttggaaaaatgaaatttagtagttccaagtttcaaagaaatgtcaacattttattccatt c.*360
. . . . . . g.60713
caataaagaacaaaaccaatagtgtttttattactttcatctgaaacattccatgtttta c.*420
. . . . . . g.60773
atctgagccttgcagactttcatttggagtttgaacccgttttggttgcatttcattttt c.*480
. . . . . . g.60833
ggagaacttaattaacgtgagattggcaattgaaatgcaggtgcagttttctgttaatgt c.*540
. . . . . . g.60893
catgctgttgtttaggtaataagaaatattaagtaattggctttagattttgtaattttt c.*600
. . . . . . g.60953
ttccctgagttcctgctagatttcgtattctagtagtcaatgtattttcagtgaaatgca c.*660
. . . . . . g.61013
aaaatattcccgttatctttgaccagtattaatttttgagatcttactgcttgtcacttg c.*720
. . . . . . g.61073
aatcccgtgattgtcatacatctctggtataagcaacatttgatttttgaagtgtgtaga c.*780
. . . . . . g.61133
ccatctcttcatattttcaagatgtaattttacatttctgcatttttaaaacagtttggc c.*840
. . . . . . g.61193
cataatcctagatgcacgcttctaattcatgtacctgcacatgtgacctttgtgaacaga c.*900
. . . . . . g.61253
aatttgcatgtataatttgtgtttacttgtaactttctggttatatactgcttatatctg c.*960
. . . . . . g.61313
tggattcaagttactgaagtgaataccaataaaaagaaaaccctaggccatgttaattgg c.*1020
. . g.61339
ttatacatgtttggaatgttaaccaa c.*1046
(downstream sequence)
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