(used for variant description)
(last modified April 21, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_133638.3 in the ADAMTS19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering ADAMTS19 transcript NM_133638.3.
(upstream sequence)
. . . . . . g.60
ATGCGCCTGACTCACATCTGCTGCTGCTGCCTCCTTTACCAGCTGGGGTTCCTGTCGAAT c.60
M R L T H I C C C C L L Y Q L G F L S N p.20
. | 02 . . . . . g.739
GGGATCGTTTCAG | AGCTGCAGTTCGCCCCCGACCGCGAGGAGTGGGAAGTCGTGTTTCCT c.120
G I V S E | L Q F A P D R E E W E V V F P p.40
. . . . . . g.799
GCGCTCTGGCGCCGGGAGCCGGTGGACCCGGCTGGCGGCAGCGGGGGCAGCGCGGACCCG c.180
A L W R R E P V D P A G G S G G S A D P p.60
. . . . . . g.859
GGCTGGGTGCGCGGCGTTGGGGGCGGCGGAAGCGCCCGGGCGCAGGCTGCCGGCAGCTCA c.240
G W V R G V G G G G S A R A Q A A G S S p.80
. . . . . . g.919
CGCGAGGTGCGCTCTGTGGCTCCGGTGCCTTTGGAGGAGCCCGTGGAGGGCCGATCAGAG c.300
R E V R S V A P V P L E E P V E G R S E p.100
. . . . . . g.979
TCCCGGCTCCGGCCCCCGCCGCCGTCGGAGGGTGAGGAGGACGAGGAGCTCGAGTCGCAG c.360
S R L R P P P P S E G E E D E E L E S Q p.120
. . . . . . g.1039
GAGCTGCCGCGGGGATCCAGCGGGGCTGCCGCCTTGTCCCCGGGCGCCCCGGCCTCGTGG c.420
E L P R G S S G A A A L S P G A P A S W p.140
. . . . . . g.1099
CAGCCGCCGCCTCCCCCGCAGCCGCCCCCGTCCCCGCCCCCGGCCCAGCATGCCGAGCCG c.480
Q P P P P P Q P P P S P P P A Q H A E P p.160
. . . . . . g.1159
GATGGCGACGAAGTGTTGCTGCGGATCCCGGCCTTCTCTCGGGACCTGTACCTGCTGCTC c.540
D G D E V L L R I P A F S R D L Y L L L p.180
. . . . . . g.1219
CGGAGAGACGGCCGCTTCCTGGCGCCGCGCTTCGCAGTGGAACAGCGGCCAAATCCCGGC c.600
R R D G R F L A P R F A V E Q R P N P G p.200
. . . . . . g.1279
CCCGGCCCCACGGGGGCAGCATCCGCCCCGCAACCTCCCGCGCCACCAGACGCAGGCTGC c.660
P G P T G A A S A P Q P P A P P D A G C p.220
. . . . . . g.1339
TTCTACACCGGAGCTGTGCTGCGGCACCCTGGCTCGCTGGCTTCTTTCAGCACCTGTGGA c.720
F Y T G A V L R H P G S L A S F S T C G p.240
| 03 . . . . . g.48718
GGTGGCCTG | ATGGGATTTATACAGCTCAATGAGGACTTCATATTTATTGAGCCACTCAAT c.780
G G L | M G F I Q L N E D F I F I E P L N p.260
. . . . . . g.48778
GATACAATGGCCATAACAGGTCACCCACACCGTGTATATAGGCAGAAAAGGTCCATGGAG c.840
D T M A I T G H P H R V Y R Q K R S M E p.280
. . . . . | 04 . g.65879
GAAAAGGTCACAGAGAAGTCAGCTCTTCACAGTCATTACTGTGGTATCATTTCAG | ATAAA c.900
E K V T E K S A L H S H Y C G I I S D | K p.300
. . . . . . g.65939
GGAAGACCTAGGTCTAGAAAAATAGCAGAAAGTGGAAGAGGGAAACGATATTCATACAAA c.960
G R P R S R K I A E S G R G K R Y S Y K p.320
. . . . . . g.65999
TTACCTCAAGAATACAACATAGAGACTGTAGTGGTTGCAGACCCAGCAATGGTTTCCTAT c.1020
L P Q E Y N I E T V V V A D P A M V S Y p.340
. . . . | 05 . g.67350
CATGGAGCAGATGCAGCCAGGAGATTCATTCTAACCATCTTAAATATG | GTATTTAACCTT c.1080
H G A D A A R R F I L T I L N M | V F N L p.360
. . . . . . g.67410
TTCCAACACAAGAGTCTGAGTGTGCAGGTCAATCTTCGTGTGATAAAGCTTATTCTGCTC c.1140
F Q H K S L S V Q V N L R V I K L I L L p.380
. | 06 . . . . . g.68158
CATGAAACTCCA | CCAGAACTATATATTGGGCATCATGGAGAAAAAATGCTAGAGAGTTTT c.1200
H E T P | P E L Y I G H H G E K M L E S F p.400
. . . . . . g.68218
TGTAAGTGGCAACATGAAGAATTTGGCAAAAAGAATGATATACATTTAGAGATGTCAACA c.1260
C K W Q H E E F G K K N D I H L E M S T p.420
. . . . . | 07 . g.91464
AACTGGGGGGAAGACATGACTTCAGTGGATGCAGCTATACTTATAACAAG | GAAAGATTTC c.1320
N W G E D M T S V D A A I L I T R | K D F p.440
. . . | 08 . . . g.136175
TGTGTGCACAAAGATGAACCATGTGATACTGTTG | GTATAGCTTACTTGAGTGGAATGTGT c.1380
C V H K D E P C D T V G | I A Y L S G M C p.460
. . . . . . g.136235
AGTGAAAAGAGAAAATGTATTATTGCTGAAGACAATGGCTTGAATCTTGCTTTTACAATT c.1440
S E K R K C I I A E D N G L N L A F T I p.480
. . | 09 . . . . g.160248
GCTCATGAAATGGGTCACAA | CATGGGCATTAACCATGACAATGACCACCCATCGTGTGCT c.1500
A H E M G H N | M G I N H D N D H P S C A p.500
. . . . . . g.160308
GATGGTCTTCATATCATGTCTGGTGAATGGATTAAAGGACAGAATCTTGGTGACGTTTCA c.1560
D G L H I M S G E W I K G Q N L G D V S p.520
. . . . | 10 . . g.161807
TGGTCTCGATGTAGCAAGGAAGATTTGGAAAGATTTCTCAG | GTCAAAGGCCAGTAACTGC c.1620
W S R C S K E D L E R F L R | S K A S N C p.540
. . . . . . g.161867
TTGCTACAAACAAATCCGCAGAGTGTCAATTCTGTGATGGTTCCCTCCAAGCTGCCAGGG c.1680
L L Q T N P Q S V N S V M V P S K L P G p.560
. . . . . . g.161927
ATGACATACACTGCTGATGAACAATGCCAGATCCTTTTTGGGCCATTGGCTTCTTTTTGT c.1740
M T Y T A D E Q C Q I L F G P L A S F C p.580
. | 11 . . . . . g.181497
CAGGAGATGCAG | CATGTTATTTGCACAGGATTATGGTGCAAGGTAGAAGGTGAGAAAGAA c.1800
Q E M Q | H V I C T G L W C K V E G E K E p.600
. . . . . | 12 . g.187361
TGCAGAACCAAGCTAGACCCACCAATGGATGGAACTGACTGTGACCTTGGTAAG | TGGTGT c.1860
C R T K L D P P M D G T D C D L G K | W C p.620
. . . . . . g.187421
AAGGCTGGAGAATGTACCAGCAGGACCTCAGCACCTGAACATCTGGCCGGAGAGTGGAGC c.1920
K A G E C T S R T S A P E H L A G E W S p.640
. . . . . . g.187481
CTGTGGAGTCCTTGTAGCCGAACCTGCAGTGCTGGGATCAGCAGTCGAGAGCGCAAATGT c.1980
L W S P C S R T C S A G I S S R E R K C p.660
| 13 . . . . . . g.188443
CCTGG | GCTAGATTCTGAAGCAAGGGATTGTAATGGTCCCAGAAAACAATACAGAATATGT c.2040
P G | L D S E A R D C N G P R K Q Y R I C p.680
. . . . . . g.188503
GAGAATCCACCTTGTCCTGCAGGTTTGCCTGGATTCAGAGACTGGCAATGTCAGGCTTAT c.2100
E N P P C P A G L P G F R D W Q C Q A Y p.700
. . . . . | 14 g.193898
AGTGTTAGAACTTCCTCCCCAAAGCATATACTTCAGTGGCAAGCTGTCCTGGATGAAG | AA c.2160
S V R T S S P K H I L Q W Q A V L D E E | p.720
. . . . . . g.193958
AAACCATGTGCCTTGTTTTGCTCTCCTGTTGGAAAAGAACAGCCTATTCTTCTATCAGAA c.2220
K P C A L F C S P V G K E Q P I L L S E p.740
. . . . . . g.194018
AAAGTGATGGATGGAACTTCTTGTGGCTATCAGGGATTAGATATCTGTGCAAATGGCAGG c.2280
K V M D G T S C G Y Q G L D I C A N G R p.760
| 15 . . . . . . g.198261
TGCCAG | AAAGTTGGCTGTGATGGTTTATTAGGGTCTCTTGCAAGAGAAGATCATTGTGGT c.2340
C Q | K V G C D G L L G S L A R E D H C G p.780
. . . . . . g.198321
GTATGCAATGGCAATGGAAAATCATGCAAGATCATTAAAGGGGATTTTAATCACACCAGA c.2400
V C N G N G K S C K I I K G D F N H T R p.800
| 16. . . . . . g.205142
GGAGCAG | GTTATGTAGAAGTGCTGGTGATACCTGCTGGAGCAAGAAGAATCAAAGTTGTG c.2460
G A G | Y V E V L V I P A G A R R I K V V p.820
. . | 17 . . . g.219386
GAGGAAAAGCCGGCACATAGCTATTTAG | CTCTCCGAGATGCTGGCAAACAGTCTATTAAT c.2520
E E K P A H S Y L A | L R D A G K Q S I N p.840
. . . . . . g.219446
AGTGACTGGAAGATTGAACACTCTGGAGCCTTCAATTTGGCTGGAACTACCGTTCATTAT c.2580
S D W K I E H S G A F N L A G T T V H Y p.860
. . . . . . g.219506
GTAAGACGAGGCCTCTGGGAGAAGATCTCTGCCAAAGGTCCTACTACAGCACCTTTACAT c.2640
V R R G L W E K I S A K G P T T A P L H p.880
| 18 . . . . . . g.223764
CTTCTG | GTGCTCCTGTTTCAGGATCAGAATTATGGTCTTCACTATGAATACACTATCCCA c.2700
L L | V L L F Q D Q N Y G L H Y E Y T I P p.900
. . . . . . g.223824
TCAGACCCTCTTCCAGAAAACCAGAGCTCTAAAGCACCTGAGCCCCTCTTCATGTGGACA c.2760
S D P L P E N Q S S K A P E P L F M W T p.920
. . . . | 19 . . g.234330
CACACAAGCTGGGAAGATTGCGATGCCACTTGTGGAGGAG | GAGAAAGGAAGACAACAGTG c.2820
H T S W E D C D A T C G G G | E R K T T V p.940
. . . . . . g.234390
TCCTGCACAAAAATCATGAGCAAAAATATCAGCATTGTGGACAATGAGAAATGCAAATAC c.2880
S C T K I M S K N I S I V D N E K C K Y p.960
. . . . . | 20 . g.240982
TTAACCAAGCCAGAGCCACAGATTCGAAAGTGCAATGAGCAACCATGTCAAACAAG | GTGG c.2940
L T K P E P Q I R K C N E Q P C Q T R | W p.980
. . . . . . g.241042
ATGATGACAGAATGGACCCCTTGTTCACGAACTTGTGGAAAAGGAATGCAGAGCAGACAA c.3000
M M T E W T P C S R T C G K G M Q S R Q p.1000
. . . . . . g.241102
GTGGCCTGTACCCAACAACTGAGCAATGGAACACTGATTAGAGCCCGAGAGAGGGACTGC c.3060
V A C T Q Q L S N G T L I R A R E R D C p.1020
. . . . . . g.241162
ATTGGGCCCAAGCCCGCCTCTGCCCAGCGCTGTGAGGGCCAGGACTGCATGACCGTGTGG c.3120
I G P K P A S A Q R C E G Q D C M T V W p.1040
. . | 21 . . . . g.243868
GAGGCGGGAGTGTGGTCTGAG | TGTTCAGTCAAGTGTGGCAAAGGCATACGTCATCGGACC c.3180
E A G V W S E | C S V K C G K G I R H R T p.1060
. . . . . . g.243928
GTTAGATGTACCAACCCAAGAAAGAAGTGTGTCCTCTCTACCAGACCCAGGGAGGCTGAA c.3240
V R C T N P R K K C V L S T R P R E A E p.1080
. . . . . | 22 . g.274528
GACTGTGAGGATTATTCAAAATGCTATGTGTGGCGAATGGGTGACTGGTCTAAG | TGCTCA c.3300
D C E D Y S K C Y V W R M G D W S K | C S p.1100
. . . . . . g.274588
ATTACCTGTGGCAAAGGAATGCAGTCCCGTGTAATCCAATGCATGCATAAGATCACAGGA c.3360
I T C G K G M Q S R V I Q C M H K I T G p.1120
. . . . . . g.274648
AGACATGGAAATGAATGTTTTTCCTCAGAAAAACCTGCAGCATACAGGCCATGCCATCTT c.3420
R H G N E C F S S E K P A A Y R P C H L p.1140
. . . . . | 23 . g.276665
CAACCCTGCAATGAGAAAATTAATGTAAATACCATAACATCACCCAGACTGG | CTGCTCTG c.3480
Q P C N E K I N V N T I T S P R L A | A L p.1160
. . . . . . g.276725
ACTTTCAAGTGCCTGGGAGATCAGTGGCCAGTGTACTGCCGAGTGATACGTGAAAAGAAC c.3540
T F K C L G D Q W P V Y C R V I R E K N p.1180
. . . . . . g.276785
CTATGTCAGGACATGCGGTGGTATCAGCGCTGCTGTGAAACATGCAGGGACTTCTATGCC c.3600
L C Q D M R W Y Q R C C E T C R D F Y A p.1200
. . g.276809
CAAAAGCTGCAGCAGAAGAGTTGA c.3624
Q K L Q Q K S X p.1207
. . . . . . g.276869
cctctagcaggctggctggatcacagctcttggcaattacattatttataaacacacaca c.*60
. . . . . . g.276929
ctagcatgtttttcagaccaaatattatcagattacatataatttaatcaaattaattta c.*120
. . . . . . g.276989
tttttttgcctgccaaacatccaatgtggtgcttgttttggttacacaaacattttgatt c.*180
. . . . . . g.277049
tatactatatggcttcataaataattttatatgaatgaattagttggatccagtaatata c.*240
. . . . . . g.277109
ataaaaagaaaaaggaaaaaaatagatcattatacttaaaacaagttttcgttgtttgtt c.*300
. . . . . . g.277169
agggctatctctaaggtgctactctctccccaccaataacattgaattatccagaatgta c.*360
. . . . . . g.277229
tactgacttagcataatagtttaggtgtatatgaagagaaactatttttgttttttggtg c.*420
. . . . . . g.277289
tcctgctgcagaattagcccattttctgtcacctgcaggagatgtgtaaacataatgaac c.*480
. . . . . . g.277349
ctcatgctgttgaacaggtttttagagaatgtattatgaatttggttcagatttatagac c.*540
. . . . . . g.277409
atccataggaaaaattctgctgtaattataaccttattttgatatggaaaagaaaagtca c.*600
. . . . . . g.277469
aaatagagactttgatcatgttcatgaacatgtacttgaacacaagtattgtaacaatga c.*660
. . . . . . g.277529
aacactgtaatgatttacactgaatcacaattgcactgttgatatagtgtagagaaatcg c.*720
. . . . . . g.277589
ttagaaatggtgacatcttacaaaaaatgtgtattattttaacatgttatcactagattt c.*780
. . . . . . g.277649
tagctttttttaaatatttttaacaaagaaaacattgatccacccatttccctgtatctt c.*840
. . . . . . g.277709
tttagcagatttattaaagagtatagtacttagcctcacgaatcataattagaaaattta c.*900
. . . . . . g.277769
ctagtatttctcagccttttccctaggaacaaggaaaaacagaaagcatataatacggtg c.*960
. . . . . . g.277829
gtcgtttcattgtgtttttcttccttttaaaaattaaaaagttttacaattatgtgaaac c.*1020
. . . . . . g.277889
gttcaaaagccagcttaaaatttttcttgtgagaaaatattatacatgattcacatgatt c.*1080
. . . . . . g.277949
tcttagatttttcaataaaatatgtaaaacttcccactgagagacaattcttcatagact c.*1140
. . . . . . g.278009
tgtcacatatccacatgtctgatgaacaaaggtactgtctacttttgttctggagtatct c.*1200
. . . . . . g.278069
tctagaggatgtttatagagtgaactgccttggaagatagtatgtctcttgggagcaaag c.*1260
. . . . . . g.278129
ggcaaacatacttctcattataaaagtttcaggttccctaaaattggggtttctttacta c.*1320
. . . . . . g.278189
taagacaatccaatgtatgttctgaggtcacctggctctcttcatgtcaccctttgggaa c.*1380
. . . . . . g.278249
atggggctcaacgagccagtacaggaaaagctgattccctggctactactatcgctgtga c.*1440
. . g.278274
gtaataaagtcctttgtgtctaatg c.*1465
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 23
©2004-2020 Leiden University Medical Center