(used for variant description)
(last modified June 16, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018365.2 in the MNS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering MNS1 transcript NM_018365.2.
(upstream sequence)
. . . . g.5045
acttttggtcgagcggagggcgcgcagctccaccgttgccaagac c.-121
. . . . . . g.5105
gccgcgtaaacacccgagcgcgcgcagccaggtgcgctccttggggctgctggctgctgc c.-61
. . . . . . g.5165
gtttgcggcgggaggtggtggccgcggtcccacgagagggggtatttttcgtcagccaag c.-1
| 02 . . . . . . g.5947
ATG | GGTTCCAAAAGGAGAAATTTGAGCTGTAGTGAAAGGCATCAGAAATTAGTAGATGAA c.60
M | G S K R R N L S C S E R H Q K L V D E p.20
. . . . . . g.6007
AACTACTGCAAAAAATTACATGTCCAAGCTCTAAAAAACGTCAACAGTCAAATCAGGAAT c.120
N Y C K K L H V Q A L K N V N S Q I R N p.40
. . . . . . g.6067
CAAATGGTGCAGAATGAAAATGATAACCGTGTTCAGCGCAAGCAATTTCTCAGATTATTA c.180
Q M V Q N E N D N R V Q R K Q F L R L L p.60
. . . . | 03 . . g.13631
CAAAATGAACAATTTGAGTTGGATATGGAAGAGGCCATTCAAAAG | GCAGAAGAAAACAAG c.240
Q N E Q F E L D M E E A I Q K | A E E N K p.80
. . . . . . g.13691
AGATTGAAAGAACTCCAGCTCAAACAAGAAGAAAAACTGGCTATGGAATTGGCAAAACTG c.300
R L K E L Q L K Q E E K L A M E L A K L p.100
. . . . . | 04 . g.23201
AAACATGAAAGTCTAAAGGACGAAAAGATGAGGCAACAAGTAAGAGAAAACAG | CATTGAG c.360
K H E S L K D E K M R Q Q V R E N S | I E p.120
. . . . . . g.23261
CTTAGAGAATTGGAGAAGAAATTAAAAGCAGCTTACATGAATAAAGAAAGGGCAGCTCAG c.420
L R E L E K K L K A A Y M N K E R A A Q p.140
. . . | 05 . . . g.25488
ATTGCTGAAAAGGATGCCATTAAATATGAACAAATG | AAACGTGATGCTGAAATAGCCAAA c.480
I A E K D A I K Y E Q M | K R D A E I A K p.160
. . . . . . g.25548
ACCATGATGGAAGAACACAAGAGAATAATAAAGGAAGAGAATGCTGCAGAAGACAAACGA c.540
T M M E E H K R I I K E E N A A E D K R p.180
. . . . . . g.25608
AACAAAGCGAAAGCACAGTACTATCTTGACTTAGAGAAACAACTTGAAGAACAAGAAAAA c.600
N K A K A Q Y Y L D L E K Q L E E Q E K p.200
. . . . . . g.25668
AAAAAGCAGGAAGCTTATGAGCAGCTGCTAAAAGAGAAACTCATGATTGATGAAATTGTT c.660
K K Q E A Y E Q L L K E K L M I D E I V p.220
. . | 06 . . . . g.26317
AGGAAGATCTATGAAGAAGATCAGTT | GGAAAAACAACAAAAGTTAGAAAAAATGAATGCA c.720
R K I Y E E D Q L | E K Q Q K L E K M N A p.240
. . . . . . g.26377
ATGCGAAGGTATATAGAAGAGTTTCAGAAAGAGCAGGCTCTCTGGAGAAAAAAGAAACGT c.780
M R R Y I E E F Q K E Q A L W R K K K R p.260
. . . . . . g.26437
GAGGAGATGGAAGAAGAAAACAGAAAAATCATAGAGTTTGCTAACATGCAGCAGCAAAGA c.840
E E M E E E N R K I I E F A N M Q Q Q R p.280
. . . . . . g.26497
GAAGAAGATCGGATGGCAAAAGTTCAAGAAAATGAGGAGAAAAGGCTACAGCTTCAGAAT c.900
E E D R M A K V Q E N E E K R L Q L Q N p.300
| 07 . . . . . . g.26657
GCG | TTGACACAGAAATTAGAAGAAATGCTGCGGCAACGTGAAGATTTGGAACAAGTGCGA c.960
A | L T Q K L E E M L R Q R E D L E Q V R p.320
. . . . . | 08 . g.35751
CAAGAATTATACCAGGAAGAACAAGCTGAAATATATAAGAGCAAGCTAAAA | GAAGAAGCA c.1020
Q E L Y Q E E Q A E I Y K S K L K | E E A p.340
. . . . . . g.35811
GAAAAGAAATTGAGAAAGCAAAAAGAGATGAAGCAAGATTTTGAAGAACAAATGGCCTTG c.1080
E K K L R K Q K E M K Q D F E E Q M A L p.360
. . . . . . g.35871
AAGGAATTAGTGCTACAGGCTGCAAAAGAGGAAGAGGAGAACTTTAGAAAAACTATGCTA c.1140
K E L V L Q A A K E E E E N F R K T M L p.380
. . . . . . g.35931
GCTAAATTTGCTGAGGATGATCGAATAGAATTAATGAATGCTCAGAAACAAAGAATGAAG c.1200
A K F A E D D R I E L M N A Q K Q R M K p.400
. . . . . . g.35991
CAGCTGGAACACAGGAGGGCTGTGGAAAAACTTATTGAAGAGCGTCGCCAACAATTCCTT c.1260
Q L E H R R A V E K L I E E R R Q Q F L p.420
| 09 . . . . . g.38690
GCAGACAAA | CAACGTGAACTAGAAGAGTGGCAGTTGCAGCAAAGGCGGCAAGGATTTATT c.1320
A D K | Q R E L E E W Q L Q Q R R Q G F I p.440
. . . . . . g.38750
AATGCAATTATTGAAGAAGAAAGGCTAAAACTTCTTAAAGAGCATGCTACAAACTTACTA c.1380
N A I I E E E R L K L L K E H A T N L L p.460
. | 10 . . . . . g.40989
GGCTATCTCCCTAAA | GGAGTATTTAAAAAAGAGGATGATATTGATCTGCTTGGTGAAGAG c.1440
G Y L P K | G V F K K E D D I D L L G E E p.480
. . . . g.41037
TTCAGGAAAGTATATCAACAAAGGAGTGAAATTTGTGAAGAGAAATGA c.1488
F R K V Y Q Q R S E I C E E K X p.495
. . . . . . g.41097
tatcatcaaaattgggtaaagcatagattttttgcatgttaccactagatgtcagcataa c.*60
. . . . . . g.41157
cttttgttttacagttcagtggcattaggtatccattgtctgtttggattttgtaaatca c.*120
. . . . . . g.41217
tcactgaatttcataacttgtaaacaattatcagatacaaattaattttaatcaagctgt c.*180
. . . . . . g.41277
tatttttgtactgataatttcaaaatccgatttctacaacactacagagcactgtttgca c.*240
. . . . . . g.41337
tccccatcctcaagacagtatatttaccttgactaatacagaactctaccccaaagtgaa c.*300
. . . . . . g.41397
ctgccttctgtctgtgtttacgaactttacttacttgatttagccagggaaataaatatt c.*360
. g.41407
tggaattttc c.*370
(downstream sequence)
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