(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_006302.2 in the MOGS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008922.1, covering MOGS transcript NM_006302.2.
(upstream sequence)
. . . . g.5043
acttccggcgggaggcggaggcggaggcgcaggcgctggctgg c.-121
. . . . . . g.5103
caggtgtcgctaaccggacggtggtcgccagggcgagaggcgggagccggagaggtgagg c.-61
. . . . . . g.5163
caggacccgggctccactgccgcctctccgagctcttgtgacgcggacctcagtgccagg c.-1
. . . . . . g.5223
ATGGCTCGGGGCGAGCGGCGGCGCCGCGCAGTGCCGGCAGAGGGAGTGCGGACAGCCGAG c.60
M A R G E R R R R A V P A E G V R T A E p.20
. . . . . . g.5283
AGGGCGGCTCGGGGAGGCCCCGGGCGACGGGACGGCCGGGGCGGCGGGCCGCGTAGCACG c.120
R A A R G G P G R R D G R G G G P R S T p.40
. . . . . . g.5343
GCTGGAGGAGTGGCTCTGGCCGTCGTGGTCCTGTCTTTGGCCCTGGGTATGTCGGGGCGC c.180
A G G V A L A V V V L S L A L G M S G R p.60
. . . . . . g.5403
TGGGTGCTGGCGTGGTACCGTGCGCGGCGGGCGGTCACGCTGCACTCCGCGCCTCCTGTG c.240
W V L A W Y R A R R A V T L H S A P P V p.80
. . . . . . g.5463
TTGCCTGCCGACTCCTCCAGCCCCGCCGTGGCCCCGGACCTCTTCTGGGGAACCTACCGC c.300
L P A D S S S P A V A P D L F W G T Y R p.100
. . . . . | 02 . g.5696
CCTCACGTCTACTTCGGCATGAAGACCCGCAGCCCGAAGCCCCTCCTCACCG | GACTGATG c.360
P H V Y F G M K T R S P K P L L T G | L M p.120
. . . . . . g.5756
TGGGCGCAGCAGGGCACCACCCCGGGGACTCCTAAGCTCAGGCACACGTGTGAGCAGGGG c.420
W A Q Q G T T P G T P K L R H T C E Q G p.140
. . . . . . g.5816
GACGGTGTGGGTCCCTATGGCTGGGAGTTCCACGACGGCCTCTCCTTCGGGCGCCAACAC c.480
D G V G P Y G W E F H D G L S F G R Q H p.160
. . . . . . g.5876
ATCCAGGATGGGGCCTTAAGGCTCACCACTGAGTTCGTCAAGAGGCCTGGGGGTCAGCAC c.540
I Q D G A L R L T T E F V K R P G G Q H p.180
. . . | 03 . . g.7045
GGAGGGGACTGGAGCTGGAGAGTGACTGTAGAGCCTCAG | GACTCAGGTACTTCTGCCCTC c.600
G G D W S W R V T V E P Q | D S G T S A L p.200
. . . . . . g.7105
CCTTTGGTCTCCCTGTTCTTCTATGTGGTGACAGATGGCAAGGAAGTCCTACTACCAGAG c.660
P L V S L F F Y V V T D G K E V L L P E p.220
. . . . . . g.7165
GTTGGGGCCAAGGGGCAGTTGAAGTTTATCAGTGGGCACACCAGTGAACTTGGTGACTTC c.720
V G A K G Q L K F I S G H T S E L G D F p.240
. . . . . | 04 . g.7402
CGCTTTACACTTTTGCCACCAACCAGTCCAGGGGATACAGCCCCCAAGTATGGCAG | CTAC c.780
R F T L L P P T S P G D T A P K Y G S | Y p.260
. . . . . . g.7462
AATGTCTTCTGGACCTCCAACCCAGGACTGCCCCTGCTGACAGAGATGGTAAAGAGTCGC c.840
N V F W T S N P G L P L L T E M V K S R p.280
. . . . . . g.7522
CTAAATAGCTGGTTTCAGCATCGGCCCCCAGGGGCCCCCCCTGAACGCTACCTCGGCTTG c.900
L N S W F Q H R P P G A P P E R Y L G L p.300
. . . . . . g.7582
CCAGGATCCCTGAAGTGGGAGGACAGAGGTCCAAGTGGGCAAGGGCAGGGGCAGTTCTTG c.960
P G S L K W E D R G P S G Q G Q G Q F L p.320
. . . . . . g.7642
ATACAGCAGGTGACCCTGAAAATTCCCATTTCCATAGAGTTTGTGTTTGAATCAGGCAGT c.1020
I Q Q V T L K I P I S I E F V F E S G S p.340
. . . . . . g.7702
GCCCAGGCAGGAGGAAATCAAGCCCTGCCAAGACTGGCAGGCAGTCTACTGACCCAGGCC c.1080
A Q A G G N Q A L P R L A G S L L T Q A p.360
. . . . . . g.7762
CTGGAGAGCCATGCTGAAGGCTTTAGAGAGCGCTTTGAGAAGACCTTCCAGCTGAAGGAG c.1140
L E S H A E G F R E R F E K T F Q L K E p.380
. . . . . . g.7822
AAGGGCCTGAGCTCTGGCGAGCAGGTTTTGGGTCAGGCTGCCCTCAGCGGCCTCCTTGGT c.1200
K G L S S G E Q V L G Q A A L S G L L G p.400
. . . . . . g.7882
GGAATTGGCTACTTCTACGGACAAGGGCTGGTATTGCCAGACATCGGGGTGGAAGGGTCT c.1260
G I G Y F Y G Q G L V L P D I G V E G S p.420
. . . . . . g.7942
GAGCAGAAGGTGGACCCAGCCCTCTTTCCACCCGTACCTCTTTTTACAGCAGTGCCCTCC c.1320
E Q K V D P A L F P P V P L F T A V P S p.440
. . . . . . g.8002
CGGTCATTCTTCCCACGAGGCTTCCTTTGGGATGAAGGCTTTCACCAGCTGGTGGTTCAG c.1380
R S F F P R G F L W D E G F H Q L V V Q p.460
. . . . . . g.8062
CGGTGGGATCCCTCCCTCACCCGGGAAGCCCTTGGCCACTGGCTGGGGCTGCTAAATGCT c.1440
R W D P S L T R E A L G H W L G L L N A p.480
. . . . . . g.8122
GATGGCTGGATTGGGAGGGAGCAGATACTGGGGGATGAGGCCCGAGCCCGGGTGCCTCCA c.1500
D G W I G R E Q I L G D E A R A R V P P p.500
. . . . . . g.8182
GAATTCCTAGTACAACGAGCAGTCCACGCCAACCCCCCAACCCTACTTTTGCCTGTAGCC c.1560
E F L V Q R A V H A N P P T L L L P V A p.520
. . . . . . g.8242
CATATGCTAGAGGTTGGTGACCCTGACGACTTGGCTTTCCTCCGAAAGGCCTTGCCCCGC c.1620
H M L E V G D P D D L A F L R K A L P R p.540
. . . . . . g.8302
CTGCATGCCTGGTTTTCCTGGCTCCATCAGAGCCAGGCAGGCCCACTGCCACTATCTTAC c.1680
L H A W F S W L H Q S Q A G P L P L S Y p.560
. . . . . . g.8362
CGCTGGCGGGGACGGGACCCTGCCTTACCAACCTTACTGAACCCCAAGACCCTACCCTCT c.1740
R W R G R D P A L P T L L N P K T L P S p.580
. . . . . . g.8422
GGGCTGGATGACTACCCCCGGGCTTCACACCCTTCAGTAACCGAGCGGCACCTGGACCTG c.1800
G L D D Y P R A S H P S V T E R H L D L p.600
. . . . . . g.8482
CGATGTTGGGTGGCACTGGGTGCCCGTGTGCTGACGCGGCTGGCAGAGCATCTGGGTGAG c.1860
R C W V A L G A R V L T R L A E H L G E p.620
. . . . . . g.8542
GCTGAGGTAGCTGCTGAGCTGGGCCCACTGGCTGCCTCACTGGAGGCAGCAGAGAGCCTG c.1920
A E V A A E L G P L A A S L E A A E S L p.640
. . . . . . g.8602
GATGAGCTGCACTGGGCCCCAGAGCTAGGAGTCTTTGCAGACTTTGGGAACCACACAAAA c.1980
D E L H W A P E L G V F A D F G N H T K p.660
. . . . . . g.8662
GCAGTACAGCTGAAGCCCAGGCCCCCTCAGGGGCTCGTTCGGGTGGTGGGTCGGCCCCAA c.2040
A V Q L K P R P P Q G L V R V V G R P Q p.680
. . . . . . g.8722
CCTCAACTGCAGTATGTAGATGCTCTTGGCTATGTCAGTCTTTTTCCCTTGCTGCTGCGA c.2100
P Q L Q Y V D A L G Y V S L F P L L L R p.700
. . . . . . g.8782
CTGCTGGACCCCACCTCATCCCGCCTTGGGCCCCTGCTGGACATTCTAGCCGACAGCCGC c.2160
L L D P T S S R L G P L L D I L A D S R p.720
. . . . . . g.8842
CATCTCTGGAGCCCCTTTGGTTTACGCTCCCTTGCAGCCTCCAGCTCCTTTTATGGCCAG c.2220
H L W S P F G L R S L A A S S S F Y G Q p.740
. . . . . . g.8902
CGCAATTCAGAGCATGATCCCCCCTACTGGCGGGGTGCTGTGTGGCTCAATGTCAACTAC c.2280
R N S E H D P P Y W R G A V W L N V N Y p.760
. . . . . . g.8962
CTGGCTTTGGGAGCACTCCACCACTATGGGCATCTGGAGGGTCCTCACCAGGCTCGGGCT c.2340
L A L G A L H H Y G H L E G P H Q A R A p.780
. . . . . . g.9022
GCCAAACTCCACGGTGAGCTCCGTGCCAACGTGGTAGGCAATGTATGGCGCCAGTACCAG c.2400
A K L H G E L R A N V V G N V W R Q Y Q p.800
. . . . . . g.9082
GCTACAGGCTTTCTTTGGGAGCAGTACAGTGACCGCGATGGGCGAGGCATGGGCTGCCGC c.2460
A T G F L W E Q Y S D R D G R G M G C R p.820
. . . . . g.9136
CCTTTCCACGGCTGGACCAGCCTTGTCTTACTGGCCATGGCTGAAGACTACTGA c.2514
P F H G W T S L V L L A M A E D Y X p.837
. . . . . . g.9196
agggagggagaggaggggagccaagacactcatgccactctggctctgaagggacaaagg c.*60
. . . . . . g.9256
cttctggcttttgcccccagccccttggataccagtaattcaaaccttcctcatttcatc c.*120
. . . . . . g.9316
tcaggtgtctccttgctgtcatcccacatagccctggggtgaatgtgaatccagagtcta c.*180
. . . g.9354
tttttctaaataaattggaaaaaacattttgaactcta c.*218
(downstream sequence)
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