(used for variant description)
(last modified May 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015884.3 in the MBTPS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012797.1, covering MBTPS2 transcript NM_015884.3.
(upstream sequence)
. g.5017
ttccggtactagcaaat c.-181
. . . . . . g.5077
cctcctgtatgtccccactggaagagtccggtgggaaaccgtgccaccgcaaggaaggag c.-121
. . . . . . g.5137
ccggcggtagcttggttcctgagcggatgctggggctgtaaggcgcgcgcggtcagctgt c.-61
. . . . . . g.5197
tggcggtgcagggaggaggacgccggggctcgccttccctcctctgccgccgctgccgcc c.-1
. . . . . . g.5257
ATGATTCCGGTGTCGCTGGTGGTGGTGGTGGTGGGTGGCTGGACTGTCGTCTACCTGACC c.60
M I P V S L V V V V V G G W T V V Y L T p.20
. | 02 . . . . . g.8677
GACTTGGTGCTGAAG | TCATCTGTCTATTTTAAACATTCTTATGAAGACTGGCTGGAAAAC c.120
D L V L K | S S V Y F K H S Y E D W L E N p.40
. . . . . . g.8737
AACGGACTGAGCATCTCCCCTTTCCACATAAGATGGCAAACTGCTGTTTTCAATCGTGCC c.180
N G L S I S P F H I R W Q T A V F N R A p.60
. . . . | 03 . . g.10649
TTTTACAGTTGGGGACGGCGGAAAGCAAGGATGCTTTACCAATG | GTTCAATTTTGGAATG c.240
F Y S W G R R K A R M L Y Q W | F N F G M p.80
. . . . . . g.10709
GTGTTTGGCGTAATTGCCATGTTTAGCTCATTTTTTCTCCTTGGAAAAACGCTGATGCAG c.300
V F G V I A M F S S F F L L G K T L M Q p.100
. . . . . . g.10769
ACTTTGGCACAAATGATGGCTGACTCTCCCTCTTCTTATTCTTCCTCCTCTTCTTCCTCT c.360
T L A Q M M A D S P S S Y S S S S S S S p.120
. . . . . . g.10829
TCCTCCTCTTCTTCCTCTTCCTCTTCTTCATCTTCTTCCTCTTCCTCGCTTCACAATGAA c.420
S S S S S S S S S S S S S S S S L H N E p.140
. | 04 . . . . g.17013
CAGGTGTTACAAGTTGTG | GTTCCTGGTATAAATTTACCCGTCAATCAACTGACCTATTTC c.480
Q V L Q V V | V P G I N L P V N Q L T Y F p.160
. . . . . . g.17073
TTCACGGCAGTTCTCATTAGTGGTGTTGTACATGAAATTGGACATGGGATAGCAGCTATT c.540
F T A V L I S G V V H E I G H G I A A I p.180
| 05 . . . . . . g.18896
AG | GGAACAAGTTCGATTTAATGGCTTTGGGATTTTTCTCTTCATTATTTATCCTGGAGCA c.600
R | E Q V R F N G F G I F L F I I Y P G A p.200
. . . . . . g.18956
TTTGTTGATCTGTTCACCACTCATTTGCAACTTATATCGCCAGTCCAGCAGCTAAGGATA c.660
F V D L F T T H L Q L I S P V Q Q L R I p.220
. | 06 . . . . . g.33979
TTTTGTGCAG | GTATCTGGCATAATTTTGTCCTTGCACTCTTGGGTATTTTAGCTCTTGTT c.720
F C A G | I W H N F V L A L L G I L A L V p.240
. . . . . . g.34039
CTCCTCCCAGTAATTCTCTTGCCATTTTACTACACTGGAGTTGGGGTGCTCATCACTGAA c.780
L L P V I L L P F Y Y T G V G V L I T E p.260
| 07 . . . . . g.35011
GTTGCTGAG | GACTCTCCTGCCATTGGACCCAGAGGCCTTTTTGTGGGAGACCTTGTCACC c.840
V A E | D S P A I G P R G L F V G D L V T p.280
. . . . . . g.35071
CATCTACAGGATTGTCCTGTTACTAATGTGCAAGATTGGAATGAATGTTTAGATACCATC c.900
H L Q D C P V T N V Q D W N E C L D T I p.300
. . . . . . g.35131
GCCTATGAGCCCCAAATTGGTTACTGTATAAGTGCATCAACTTTACAGCAGTTAAGTTTC c.960
A Y E P Q I G Y C I S A S T L Q Q L S F p.320
. | 08 . . . . . g.43554
CCAGTTAGAG | CATACAAACGACTAGATGGTTCAACTGAATGCTGTAACAATCACAGCCTC c.1020
P V R A | Y K R L D G S T E C C N N H S L p.340
. . . . | 09 . . g.43974
ACAGATGTGTGCTTTTCCTACAGAAATAATTTTAATAAGCGTTTG | CATACATGTCTTCCT c.1080
T D V C F S Y R N N F N K R L | H T C L P p.360
. . . . . . g.44034
GCCCGGAAAGCAGTTGAAGCAACTCAAGTTTGCAGAACCAATAAAGACTGTAAAAAAAGC c.1140
A R K A V E A T Q V C R T N K D C K K S p.380
. . . . . . g.44094
TCAAGTTCAAGTTTCTGTATAATACCTTCTTTGGAAACTCACACTCGCTTAATAAAAGTA c.1200
S S S S F C I I P S L E T H T R L I K V p.400
. . . . . . g.44154
AAACACCCACCTCAGATTGATATGTTATACGTAGGACATCCTCTGCATCTTCACTACACA c.1260
K H P P Q I D M L Y V G H P L H L H Y T p.420
| 10 . . . . . . g.46418
G | TGAGCATCACCAGTTTTATCCCACGTTTTAACTTTCTAAGCATAGATCTGCCAGTGGTT c.1320
V | S I T S F I P R F N F L S I D L P V V p.440
. | 11. . . . . g.47938
GTGGAGACATTTGTCAA | GTACCTGATTTCCCTCTCAGGAGCTCTGGCTATTGTTAATGCA c.1380
V E T F V K | Y L I S L S G A L A I V N A p.460
. . . . . . g.47998
GTACCCTGCTTTGCTTTGGATGGACAATGGATTCTAAACTCTTTCTTGGATGCCACCCTT c.1440
V P C F A L D G Q W I L N S F L D A T L p.480
. . . . . . g.48058
ACCTCAGTGATTGGAGACAATGATGTCAAAGATCTAATAGGGTTTTTCATCTTGCTGGGT c.1500
T S V I G D N D V K D L I G F F I L L G p.500
. . . . . . g.48118
GGCAGTGTACTTTTGGCTGCCAATGTGACCCTGGGACTCTGGATGGTTACAGCACGGTAA c.1560
G S V L L A A N V T L G L W M V T A R X p.519
. . . . . . g.48178
tgtttgcactcatctgacagaatccctgagttacagtatacagctatgtggtaatattca c.*60
. . . . . . g.48238
ttgccattgaaattcttacttggtatgaaatataaagtgtttccttaaaattacatctta c.*120
. . . . . . g.48298
gccaacaaccctgagctcctcccatatccagagtacccaaactctgtggtagaagataag c.*180
. . . . . . g.48358
cagaagaaatgaaaggcatagtccctgactatattctaatttaggactgaatgtacccag c.*240
. . . . . . g.48418
atgcttgtggaataatatctaagcaagtgcaaattcatgtaataccgttttgtctgatta c.*300
. . . . . . g.48478
catattgtgttgaaatagtataaaggagaacagaactgggtggaattaattgggaaaaac c.*360
. . . . . . g.48538
ttcttacaaaagcatcattaatcaaaatttgaaggagaccagactttggccaagtggaag c.*420
. . . . . . g.48598
gatgaccattgtcttggcctgtatctcttgtcctttgtcttgtttgaaaagtattttaaa c.*480
. . . . . . g.48658
acttaatggtgtattattttgtgctctgaaagctgaggtctgattacaattagtaaaatt c.*540
. . . . . . g.48718
ctatagaagaatctgctgacgtgaaagggaaaaatctttgtcaaatgataccaaataaat c.*600
. . . . . . g.48778
gaacaaaacaggaagtagggcctatgatatcgtgagacatgttttgccccacaagagttg c.*660
. . . . . . g.48838
catcttttataaggtgtctctgccccctcataaagcagcactagctttgacatccacggt c.*720
. . . . . . g.48898
gagctgcaggaagcatcacacaccagcagcatgtgagcagagggaggcagttggggttga c.*780
. . . . . . g.48958
acttcggaactaggccgggtctcctgacagatcacaagacaccccagaggatcttcagca c.*840
. . . . . . g.49018
gtcctacttcccattctctatagagctttgaagcttggaacccttccagggtaaacattt c.*900
. . . . . . g.49078
tctcttgtgctgctcaggacatctggggcctagctcctgggttcctgtctccaagaagca c.*960
. . . . . . g.49138
atgaccttaaactctgagccatactctgtcctcaccagcggctcccatgtttttctgtgt c.*1020
. . . . . . g.49198
caggttattaagtacctagtccttgttttctgtctctctcctaagctacctctctgggtc c.*1080
. . . . . . g.49258
cacagaagacttggtagtatagtgagaatggctatacgtgagtacaaacgtggattttcc c.*1140
. . . . . . g.49318
agggcttgggaactgattcttgagcccagaagagccacgcctgctttgaggtcttttgga c.*1200
. . . . . . g.49378
gtggagatgcagccctgggaaatttggggagtcagcaggccagtgtgaagctattggtcc c.*1260
. . . . . . g.49438
taggagtatatgagcttgctgtttctttgatggaaaatacatgcttctcttgtatactca c.*1320
. . . . . . g.49498
gaagtgactaagggcaataactcattaatagccatctatccaacttctttactgagtgat c.*1380
. . . . . . g.49558
gtattccatggggttacctttttcagattattgagttgctctgtaagcactaaaactttt c.*1440
. . . . . . g.49618
taatcatttttaagaaactttttagattgtattacaaatttgccttaacagtaattagat c.*1500
. . . . . . g.49678
gttgaatataattttaacattttattaatgacttgggtcatcagttaataccagtactaa c.*1560
. . . . . . g.49738
aaccatacgaattattggtttattccagaaaatacagtatttgttctatttttaggtaga c.*1620
. . . . . . g.49798
caatcatttgggatcagagtacattagcatagtaatgctcagtcagacctgttcaagtag c.*1680
. . . . . . g.49858
tagagcttggagaatgccatgaaatacttatataattaatttgattgcatgaactaagca c.*1740
. . . . . . g.49918
attttactaatgaaaaggttgtatatgtgcaagtcacttttttaaaaaccaagaaaaaac c.*1800
. . . . . . g.49978
tttaatagaggaaatcttattcattaatttatttttctgagtaaaaaaacgaaacccaaa c.*1860
. . . . . . g.50038
tctcattttatttcaactgttaaacattttgatctgttgacccataggatcaggatttgg c.*1920
. . . . . . g.50098
gaaccactttactaggaaagagcagatcagtaccatttgtataaaaccggcctcattatg c.*1980
. . . . . . g.50158
taagaaagaaaatgttacgtgttttcttctttagcttggttgtgggcacttctacagcaa c.*2040
. . . . . . g.50218
ggaccatatcatattcatctttgcatccctggcacagtgcatgagacataagtacttaat c.*2100
. . . . . . g.50278
aaatgcagttgaatggataatgattagtgttatttatggattagaaaaagcatgtttcta c.*2160
. . . . . . g.50338
tttaagtaagctgtaaaaagtattattgaatatttactgtaaatatatgttcacataaaa c.*2220
. . . . . . g.50398
aaataacttggagggtctttgtgtccctggcatattatcatcttcatggaaagaatccac c.*2280
. . . . . . g.50458
tgtggtttctgtagagtgattggaaaaatggattattttgaggattgaagaaagtgttct c.*2340
. . . . . . g.50518
ttctgcgttgtcactttgttcaacagtaaaactttattctcagtgttcctactctgcatt c.*2400
. . . . . . g.50578
gtttacatttttgacagttttttttaatcacctacaatctgtaaagaatgtatatattct c.*2460
. . . . . . g.50638
tttcagcatctcagtttgaaaagacatgcagttaaacttgaccttttgataatcgctctt c.*2520
. . . . . . g.50698
acaggtcattgtctgttctaacagcaaattgtaaacatgtgcttcatagatattgtggct c.*2580
. . . . . . g.50758
ctcagtcatcactttgtcctatggtatttattgaatgttcacatactaatggtgcacagg c.*2640
. . . . . . g.50818
tgtttttttctataaatcttctgactgtcctgtaattcattcttaagctttaacttgaag c.*2700
. . . . . . g.50878
gtatcgtaattgccggcatttgatgtttagcaataaaagaataaatgtgtaccagcattt c.*2760
g.50886
tatgttta c.*2768
(downstream sequence)
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