(used for variant description)
(last modified July 4, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005957.4 in the MTHFR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013351.1, covering MTHFR transcript NM_005957.4.
(upstream sequence)
. . . . g.5049
atgacgataaaggcacggcctccaacgagacctgtgggcacggccatgt c.-181
. . . . . . g.5109
tgggggcggggcttccggtcacccgcgccggtggtttccgccctgtaggcccgcctctcc c.-121
. . . . . . g.5169
agcaacctgacacctgcgccgcgccccttcactgcgttccccgcccctgcagcggccaca c.-61
. . . . . | 02 . g.7987
gtggtgcggccggcggccgagcgttctgagtcacccgggactggagg | taggaacccagcc c.-1
. . . . . . g.8047
ATGGTGAACGAAGCCAGAGGAAACAGCAGCCTCAACCCCTGCTTGGAGGGCAGTGCCAGC c.60
M V N E A R G N S S L N P C L E G S A S p.20
. . . . . . g.8107
AGTGGCAGTGAGAGCTCCAAAGATAGTTCGAGATGTTCCACCCCGGGCCTGGACCCCGAG c.120
S G S E S S K D S S R C S T P G L D P E p.40
. . . . . . g.8167
CGGCATGAGAGACTCCGGGAGAAGATGAGGCGGCGATTGGAATCTGGTGACAAGTGGTTC c.180
R H E R L R E K M R R R L E S G D K W F p.60
. . . . . | 03 . g.9708
TCCCTGGAATTCTTCCCTCCTCGAACTGCTGAGGGAGCTGTCAATCTCATCTCAAG | GTTT c.240
S L E F F P P R T A E G A V N L I S R | F p.80
. . . . . . g.9768
GACCGGATGGCAGCAGGTGGCCCCCTCTACATAGACGTGACCTGGCACCCAGCAGGTGAC c.300
D R M A A G G P L Y I D V T W H P A G D p.100
. . . . . . g.9828
CCTGGCTCAGACAAGGAGACCTCCTCCATGATGATCGCCAGCACCGCCGTGAACTACTGT c.360
P G S D K E T S S M M I A S T A V N Y C p.120
. . . . . . g.9888
GGCCTGGAGACCATCCTGCACATGACCTGCTGCCGTCAGCGCCTGGAGGAGATCACGGGC c.420
G L E T I L H M T C C R Q R L E E I T G p.140
. . . . . | 04 . g.10786
CATCTGCACAAAGCTAAGCAGCTGGGCCTGAAGAACATCATGGCGCTGCGGGGAG | ACCCA c.480
H L H K A K Q L G L K N I M A L R G D | P p.160
. . . . . . g.10846
ATAGGTGACCAGTGGGAAGAGGAGGAGGGAGGCTTCAACTACGCAGTGGACCTGGTGAAG c.540
I G D Q W E E E E G G F N Y A V D L V K p.180
. . . . | 05 . . g.14718
CACATCCGAAGTGAGTTTGGTGACTACTTTGACATCTGTGTGGCAG | GTTACCCCAAAGGC c.600
H I R S E F G D Y F D I C V A G | Y P K G p.200
. . . . . . g.14778
CACCCCGAAGCAGGGAGCTTTGAGGCTGACCTGAAGCACTTGAAGGAGAAGGTGTCTGCG c.660
H P E A G S F E A D L K H L K E K V S A p.220
. . . . . . g.14838
GGAGCCGATTTCATCATCACGCAGCTTTTCTTTGAGGCTGACACATTCTTCCGCTTTGTG c.720
G A D F I I T Q L F F E A D T F F R F V p.240
. . . . . . g.14898
AAGGCATGCACCGACATGGGCATCACTTGCCCCATCGTCCCCGGGATCTTTCCCATCCAG c.780
K A C T D M G I T C P I V P G I F P I Q p.260
| 06 . . . . . . g.15815
| GGCTACCACTCCCTTCGGCAGCTTGTGAAGCTGTCCAAGCTGGAGGTGCCACAGGAGATC c.840
| G Y H S L R Q L V K L S K L E V P Q E I p.280
. . . . . . g.15875
AAGGACGTGATTGAGCCAATCAAAGACAACGATGCTGCCATCCGCAACTATGGCATCGAG c.900
K D V I E P I K D N D A A I R N Y G I E p.300
. . . . . . g.15935
CTGGCCGTGAGCCTGTGCCAGGAGCTTCTGGCCAGTGGCTTGGTGCCAGGCCTCCACTTC c.960
L A V S L C Q E L L A S G L V P G L H F p.320
. . . . . . g.15995
TACACCCTCAACCGCGAGATGGCTACCACAGAGGTGCTGAAGCGCCTGGGGATGTGGACT c.1020
Y T L N R E M A T T E V L K R L G M W T p.340
. | 07 . . . . . g.16289
GAGGACCCCAG | GCGTCCCCTACCCTGGGCTCTCAGCGCCCACCCCAAGCGCCGAGAGGAA c.1080
E D P R | R P L P W A L S A H P K R R E E p.360
. . . . . . g.16349
GATGTACGTCCCATCTTCTGGGCCTCCAGACCAAAGAGTTACATCTACCGTACCCAGGAG c.1140
D V R P I F W A S R P K S Y I Y R T Q E p.380
. . | 08 . . . . g.16599
TGGGACGAGTTCCCTAACGGCCGCTG | GGGCAATTCCTCTTCCCCTGCCTTTGGGGAGCTG c.1200
W D E F P N G R W | G N S S S P A F G E L p.400
. . . . . . g.16659
AAGGACTACTACCTCTTCTACCTGAAGAGCAAGTCCCCCAAGGAGGAGCTGCTGAAGATG c.1260
K D Y Y L F Y L K S K S P K E E L L K M p.420
. . . . . . g.16719
TGGGGGGAGGAGCTGACCAGTGAAGAAAGTGTCTTTGAAGTCTTCGTTCTTTACCTCTCG c.1320
W G E E L T S E E S V F E V F V L Y L S p.440
. . | 09. . . . g.17047
GGAGAACCAAACCGGAATGGTCACAAA | GTGACTTGCCTGCCCTGGAACGATGAGCCCCTG c.1380
G E P N R N G H K | V T C L P W N D E P L p.460
. . . . . . g.17107
GCGGCTGAGACCAGCCTGCTGAAGGAGGAGCTGCTGCGGGTGAACCGCCAGGGCATCCTC c.1440
A A E T S L L K E E L L R V N R Q G I L p.480
. . . . . . g.17167
ACCATCAACTCACAGCCCAACATCAACGGGAAGCCGTCCTCCGACCCCATCGTGGGCTGG c.1500
T I N S Q P N I N G K P S S D P I V G W p.500
. . . | 10 . . . g.18754
GGCCCCAGCGGGGGCTATGTCTTCCAGAAG | GCCTACTTAGAGTTTTTCACTTCCCGCGAG c.1560
G P S G G Y V F Q K | A Y L E F F T S R E p.520
. . . . . . g.18814
ACAGCGGAAGCACTTCTGCAAGTGCTGAAGAAGTACGAGCTCCGGGTTAATTACCACCTT c.1620
T A E A L L Q V L K K Y E L R V N Y H L p.540
. | 11 . . . . . g.19825
GTCAATGTGAAG | GGTGAAAACATCACCAATGCCCCTGAACTGCAGCCGAATGCTGTCACT c.1680
V N V K | G E N I T N A P E L Q P N A V T p.560
. . . . . . g.19885
TGGGGCATCTTCCCTGGGCGAGAGATCATCCAGCCCACCGTAGTGGATCCCGTCAGCTTC c.1740
W G I F P G R E I I Q P T V V D P V S F p.580
. | 12 . . . . . g.20253
ATGTTCTGGAAG | GACGAGGCCTTTGCCCTGTGGATTGAGCGGTGGGGAAAGCTGTATGAG c.1800
M F W K | D E A F A L W I E R W G K L Y E p.600
. . . . . . g.20313
GAGGAGTCCCCGTCCCGCACCATCATCCAGTACATCCACGACAACTACTTCCTGGTCAAC c.1860
E E S P S R T I I Q Y I H D N Y F L V N p.620
. . . . . . g.20373
CTGGTGGACAATGACTTCCCACTGGACAACTGCCTCTGGCAGGTGGTGGAAGACACATTG c.1920
L V D N D F P L D N C L W Q V V E D T L p.640
. . . . . g.20424
GAGCTTCTCAACAGGCCCACCCAGAATGCGAGAGAAACGGAGGCTCCATGA c.1971
E L L N R P T Q N A R E T E A P X p.656
. . . . . . g.20484
ccctgcgtcctgacgccctgcgttggagccactcctgtcccgccttcctcctccacagtg c.*60
. . . . . . g.20544
ctgcttctcttgggaactccactctccttcgtgtctctcccaccccggcctccactcccc c.*120
. . . . . . g.20604
cacctgacaatggcagctagactggagtgaggcttccaggctcttcctggacctgagtcg c.*180
. . . . . . g.20664
gccccacatgggaacctagtactctctgctctagccaggagtctgtgctcttttggtggg c.*240
. . . . . . g.20724
gagcacttgcgtcctgcagaggaccacagtgggtggcacctcctgagaaggcgaggagag c.*300
. . . . . . g.20784
tggttgttgccaactaagccctcgaaccaaggcagcctccagagccagcctgggactccc c.*360
. . . . . . g.20844
agtgaacttacacttggagcccgtgcagtacaggcaaaacacgcaagggcatcaggcact c.*420
. . . . . . g.20904
ggtggcatcgtagaagagatgtggcaaagtgctgtacccttccacctcctagaggtgggc c.*480
. . . . . . g.20964
agctgggccccacctacttgtgactgaaggggcacaccactgccctgcctgcccacttag c.*540
. . . . . . g.21024
ccgtccatggcaccagccccctggatgggcattgggctgacacctaccatgctgcttttt c.*600
. . . . . . g.21084
ggcacagttgtctattctgagccttgagagaaaaagtgccccttaagggttgaaggcagt c.*660
. . . . . . g.21144
ctgaacccttgtgcttggtggggctcgtggccttccccttttgcctggctgtggaggcct c.*720
. . . . . . g.21204
gatgctgccccgttccctgtcagaggctaagatgagatttgccagcacaggggccccaga c.*780
. . . . . . g.21264
tctgcctgggcctgtgcagcagcccagcttcctggtgtatttttcaggtaggcccttgtc c.*840
. . . . . . g.21324
ctgccagctgccttcctcatcccctcgtcctgtcccagaggttatctgcctggcctggct c.*900
. . . . . . g.21384
ccccacgagtcacctgcaagccccagggcctgggggcagtgactggcaggtgcagatggg c.*960
. . . . . . g.21444
ctgtttcgtgtagtggaagagcagcctgatggccaagggggtggacgcaattgtgggatg c.*1020
. . . . . . g.21504
tcctctttactcccttcctggcctcactggctggggcagaggggcagccgctaggagaga c.*1080
. . . . . . g.21564
ctgaaagcagcagctaggactgaggagtgggttttattgtccttcagagctcttcaagct c.*1140
. . . . . . g.21624
gtcccctctgtcatcactccctggatgtgtggggcatggttccttccctgggaaggctaa c.*1200
. . . . . . g.21684
gttcagttctgttttttattctatgagaacaagtcacagctgcagctgggccccatgctc c.*1260
. . . . . . g.21744
tgccccaagcccccaaccccgcggtgctctggcggcttcctgtccactctcggggccctt c.*1320
. . . . . . g.21804
ggggcctggcttgctccagggtcttgggctactggcagctcctctccttgggctcctggc c.*1380
. . . . . . g.21864
tgccaggcgttggtgccacttcttaaaggcctggaaccagggaggagaggaaatgctatt c.*1440
. . . . . . g.21924
gttgtgggctttctccggggtctgtgctgtgcctgctagagcaacccctgtacccagctc c.*1500
. . . . . . g.21984
cttttgtccccagggcccctccctctgccccaagcagccagccagtcttgcctaggccaa c.*1560
. . . . . . g.22044
atgcacaagctcagaatagatctgatggtgagctgggaagctgtactcagagcagagcaa c.*1620
. . . . . . g.22104
atgagggagggggcgctcaggacccaggccctccatgggctagtgtgagtggcagccatg c.*1680
. . . . . . g.22164
cctcatgccacaccttcttcgcaaactgatggaccgggtgggcctggcctgagctggggc c.*1740
. . . . . . g.22224
cacaaatcaaagcaagggctccagcatccagcctgtgtgttctgtaatggaactgacccc c.*1800
. . . . . . g.22284
ctcccctgaaaacgaaggggccccggggctggcaagcagggaaagctccacggtgcgtgg c.*1860
. . . . . . g.22344
ctgtggcacagacttctggaaggctggctgagtggaatgcagggaagagggcagtacctg c.*1920
. . . . . . g.22404
ggaaaggacccacccatcttcctgctgctgtaactgctgagccactcgcagtcgcaggat c.*1980
. . . . . . g.22464
ccgctgccaccacgtctgccaggcccatctcaggtgccactccctgagctttggggacag c.*2040
. . . . . . g.22524
ttggcagagaaggcctcttgtgctcacgctcccccgcagtccccagcccttctgcctttc c.*2100
. . . . . . g.22584
tcccccgacactgctgcaccagagtgaaagggctatggcaagggggtgtcatctgaggag c.*2160
. . . . . . g.22644
tattaagaatgcagattcctgggcctgtcccccaaggttttggagtcagtaggtccaagg c.*2220
. . . . . . g.22704
gccatacttttgagaggggtttgggttaagtatgaggtgaaatgggagatggtcagtgtg c.*2280
. . . . . . g.22764
gagaggggtgcacccactcaccagggtccgcaccagctgctctgccccttgggcatccac c.*2340
. . . . . . g.22824
ccagtgctgccatgccactgccaggcacctggcctgctgggaaccccgcagcccgtgaag c.*2400
. . . . . . g.22884
cagtgcctcgaggcaccggcgctgcaggtacttcctcctgatggccaagagcatcgtgac c.*2460
. . . . . . g.22944
ccttcagggccagaaggagggcagagccatgggcctgggcctgcttttccaggatcctgc c.*2520
. . . . . . g.23004
aggaacgagcactggccagagagggcccagctgtagccatggctcaggcaagcccctcag c.*2580
. . . . . . g.23064
cccttgcccccatccctcggacccaccaaactgcacacacagctcctcttaccgtagcct c.*2640
. . . . . . g.23124
ccgtttatgggccttgctttgggctttgcaggctctgggctcagggctggagtgcgctct c.*2700
. . . . . . g.23184
tggtccctggtccctcgtccacaggggcaggcctgggacccagctactctgtccaggcca c.*2760
. . . . . . g.23244
ctgtggccagagctggaaggcagggcagagggaatgttccctgcaccctggaaaggggag c.*2820
. . . . . . g.23304
ttgagtcacaagaggttaaggtgggtccaggaaggcagctgctcttagtgcccgcctagg c.*2880
. . . . . . g.23364
agttgagtacagtgaggagggtggaggaaggtgctgagcttagccttgtgccctgccccc c.*2940
. . . . . . g.23424
atctccccaggcctccagcctctcccggctgcctgccgcccaaagagaaatcacaggggc c.*3000
. . . . . . g.23484
ggggcaggaatgcaaagtgttttctcagaacagctgaaacattccgaagagggaatggat c.*3060
. . . . . . g.23544
ggggagaatggtcaatacacataagaccgtgtcccaaggagctgatttccaggcccctga c.*3120
. . . . . . g.23604
ggactggagaccgcttcacccctgcacttcagacaccgtttgtcccccggggcaaggtct c.*3180
. . . . . . g.23664
ccttactctgagcccaggccgttccccttggcttcctccgtccacccaggctgcactgca c.*3240
. . . . . . g.23724
gtgatggcgcgggaggcaccagctctgtggcctgtgtccagcagctgcgggtctgaagga c.*3300
. . . . . . g.23784
atagccagagaggagcacctgaaccccatgggcttggacttcctggggccccgctgggat c.*3360
. . . . . . g.23844
ttcttcgctgctctagctggcaggacacatcccggcctcttccacccattcccccatgtg c.*3420
. . . . . . g.23904
gctgaagacattccaacaatggggtgggcccataatagttagccctcagtcagttcccgg c.*3480
. . . . . . g.23964
agcacagccctgggagggggctatttctctccccactgaaaacatttcaaagctgagtta c.*3540
. . . . . . g.24024
cttgtctgaggcctcatccctcggaagccgtctgactccagagtctgagcccccggctag c.*3600
. . . . . . g.24084
taccctatagagagggggctctccaaaggggctgctggggcatgtgtgcctgtggcagaa c.*3660
. . . . . . g.24144
aagaggagaccctggaattcagcaccctgggtgccattcccagcgtttagtttctagagg c.*3720
. . . . . . g.24204
cctcagtttctccatcagcttatgggatccttgtctttactgacaagaatggaatagaaa c.*3780
. . . . . . g.24264
tgtaaaagtactctgaaaagcaattgccctgtaacttatctagaaagaaaagaccctgag c.*3840
. . . . . . g.24324
actccagaatctgctgttgccatagccccatatgtgtgaattctgcaactagccaaggct c.*3900
. . . . . . g.24384
agttcctttcaattccatttaaaaaacaaaaaccagcaggtgtggtggctcatggcgtaa c.*3960
. . . . . . g.24444
tgggcctgcccaatgctttgggaggccaaggcaggtagatcgcttgagcccaggagtttg c.*4020
. . . . . . g.24504
agacaagccctggcaacatagtgagatcccatttctacaaaaaaaaaaaaaaaaaaatta c.*4080
. . . . . . g.24564
gccgggtgtggtggcacacgcctgtagtctcagctactcaggtggctgaggtgggaggat c.*4140
. . . . . . g.24624
cgtttgagccctggaggttgaggctgcagtgagctgtgatcgcaccactgcactctggcc c.*4200
. . . . . . g.24684
tgggcgacagagtgagacactgtctgagaacaaaaaacgactgaaaaaaaaaatcacctt c.*4260
. . . . . . g.24744
agctttttctcttagaatcttctctaaaacgtattctttgtggcattctgaaataggatt c.*4320
. . . . . . g.24804
catgatgatgcctgttgatcttagggacactacctcacctgccagtatctttggggctgt c.*4380
. . . . . . g.24864
gtccttcaaggacatgtccccagactgctgtgcagtgtcattttttgtgtttggtttggt c.*4440
. . . . . . g.24924
ggtggcttcttcccccttgctaggctatcaacctcttatcaccacttgttggtgtcagaa c.*4500
. . . . . . g.24984
ctaactgcttctggtctggagagggactgaccgatgcctttgggtagagagaattatgaa c.*4560
. . . . . . g.25044
agaaattttggtatttttctactttatattttctgaggtttctgtaataagcatatttca c.*4620
. . . . . . g.25104
cttttccaataagaaaaaaaaaaacttggcctggcgcggtggctcacacctgtaatccca c.*4680
. . . . . . g.25164
gcactttgggaagtcgaggtgggaggatcacttgagttcaggagttcgagaccagcttgg c.*4740
. . . . . . g.25224
gcaatatggtgaaaccccgtctctactaaaaatacaaaaattagccaggcgtggtggcgt c.*4800
. . . . . . g.25284
gcacttgtagtcccagctactcaggaagctgaggcgggagaatcacttgaacccgggagg c.*4860
. . . . . . g.25344
cagaggttgcagtgagctgagatcactcctctgcttcagcctgggcaattgagccagact c.*4920
. . . g.25374
ctgtctcaaaaataaacaaaaaaacttgac c.*4950
(downstream sequence)
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