(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MTHFD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering MTHFD1 transcript NM_005956.3.
(upstream sequence)
. . g.1032
aattacggccggattccggagtccttt c.-361
. . . . . . g.1092
ccagctccctcttcggccgggtttcccgccgaatacaaaggcgcactgtgaactggctct c.-301
. . . . . . g.1152
ttctttccgccaatcatttccgccagccattcatcaccgattttcttcatcttcccctcc c.-241
. . . . . . g.1212
ctcttccgtcccgcagtccccgacctgttagctctcggttagttaagggactcgggtcct c.-181
. . . . . . g.1272
tccgaactgcgcatgcgccaccgcgtctgcagggggagaagcgggcaggggcgcaggcgc c.-121
. . . . . . g.1332
agtagtgtgatcccctggccagtccctaagcacgtgggttgggttgtcctgcttggctgc c.-61
. . . . . . g.1392
ggagggagtggaacctcgatattggtggtgtccatcgtgggcagcggactaataaaggcc c.-1
. . . . | 02 . . g.13776
ATGGCGCCAGCAGAAATCCTGAACGGGAAGGAGATCTCCGC | GCAAATAAGGGCGAGACTG c.60
M A P A E I L N G K E I S A | Q I R A R L p.20
. . . . . . g.13836
AAAAATCAAGTCACTCAGTTGAAGGAGCAAGTACCTGGTTTCACACCACGCCTGGCAATA c.120
K N Q V T Q L K E Q V P G F T P R L A I p.40
| 03 . . . . . . g.24108
TTACAG | GTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCT c.180
L Q | V G N R D D S N L Y I N V K L K A A p.60
| 04 . . . . . . g.25490
GAAGAG | ATTGGGATCAAAGCCACTCACATTAAGTTACCAAGAACAACCACAGAATCTGAG c.240
E E | I G I K A T H I K L P R T T T E S E p.80
| 05 . . . . . . g.28382
| GTGATGAAGTACATTACATCTTTGAATGAAGACTCTACTGTACATGGGTTCTTAGTGCAG c.300
| V M K Y I T S L N E D S T V H G F L V Q p.100
. . . . . . g.28442
CTACCTTTAGATTCAGAGAATTCCATTAACACTGAAGAAGTGATCAATGCTATTGCACCC c.360
L P L D S E N S I N T E E V I N A I A P p.120
. | 06. . . . . g.28646
GAGAAGGATGTGGATGG | ATTGACTAGCATCAATGCTGGGAAACTTGCTAGAGGTGACCTC c.420
E K D V D G | L T S I N A G K L A R G D L p.140
. . . . . | 07 g.30854
AATGACTGTTTCATTCCTTGTACGCCTAAGGGATGCTTGGAACTCATCAAAGAGACAG | GG c.480
N D C F I P C T P K G C L E L I K E T G | p.160
. . . . . . g.30914
GTGCCGATTGCCGGAAGGCATGCTGTGGTGGTTGGGCGCAGTAAAATAGTTGGGGCCCCG c.540
V P I A G R H A V V V G R S K I V G A P p.180
. . . . . . g.30974
ATGCATGACTTGCTTCTGTGGAACAATGCCACAGTGACCACCTGCCACTCCAAGACTGCC c.600
M H D L L L W N N A T V T T C H S K T A p.200
. | 08 . . . . . g.32823
CATCTGGATGAGGAG | GTAAATAAAGGTGACATCCTGGTGGTTGCAACTGGTCAGCCTGAA c.660
H L D E E | V N K G D I L V V A T G Q P E p.220
. . . . . . g.32883
ATGGTTAAAGGGGAGTGGATCAAACCTGGGGCAATAGTCATCGACTGTGGAATCAATTAT c.720
M V K G E W I K P G A I V I D C G I N Y p.240
| 09. . . . . . g.37821
GTCCCAG | ATGATAAAAAACCAAATGGGAGAAAAGTTGTGGGTGATGTGGCATACGACGAG c.780
V P D | D K K P N G R K V V G D V A Y D E p.260
. . . . . . g.37881
GCCAAAGAGAGGGCGAGCTTCATCACTCCTGTTCCTGGCGGCGTAGGGCCCATGACAGTT c.840
A K E R A S F I T P V P G G V G P M T V p.280
. | 10 . . . . . g.38739
GCAATGCTCATGCAG | AGCACAGTAGAGAGTGCCAAGCGTTTCCTGGAGAAATTTAAGCCA c.900
A M L M Q | S T V E S A K R F L E K F K P p.300
. . . . . | 11 . g.38990
GGAAAGTGGATGATTCAGTATAACAACCTTAACCTCAAGACACCTGTTCCAAG | TGACATT c.960
G K W M I Q Y N N L N L K T P V P S | D I p.320
. . . . . . g.39050
GATATATCACGATCTTGTAAACCGAAGCCCATTGGTAAGCTGGCTCGAGAAATTGGTCTG c.1020
D I S R S C K P K P I G K L A R E I G L p.340
. . . . . . g.39110
CTGTCTGAAGAGGTAGAATTATATGGTGAAACAAAGGCCAAAGTTCTGCTGTCAGCACTA c.1080
L S E E V E L Y G E T K A K V L L S A L p.360
. . . . | 12. . g.40314
GAACGCCTGAAGCACCGGCCTGATGGGAAATACGTGGTGGTGACTGG | AATAACTCCAACA c.1140
E R L K H R P D G K Y V V V T G | I T P T p.380
. . . . . . g.40374
CCCCTGGGAGAAGGGAAAAGCACAACTACAATCGGGCTAGTGCAAGCCCTTGGTGCCCAT c.1200
P L G E G K S T T T I G L V Q A L G A H p.400
. . . . . . g.40434
CTCTACCAGAATGTCTTTGCGTGTGTGCGACAGCCTTCTCAGGGCCCCACCTTTGGAATA c.1260
L Y Q N V F A C V R Q P S Q G P T F G I p.420
| 13 . . . . . | 14 . g.44505
AAAG | GTGGCGCTGCAGGAGGCGGCTACTCCCAGGTCATTCCTATGGAAGAG | TTTAATCTC c.1320
K G | G A A G G G Y S Q V I P M E E | F N L p.440
. . . . . . g.44565
CACCTCACAGGTGACATCCATGCCATCACTGCAGCTAATAACCTCGTTGCTGCGGCCATT c.1380
H L T G D I H A I T A A N N L V A A A I p.460
. . . | 15 . . g.44772
GATGCTCGGATATTTCATGAACTGACCCAGACAGACAAG | GCTCTCTTTAATCGTTTGGTG c.1440
D A R I F H E L T Q T D K | A L F N R L V p.480
. . . . . | 16 . g.48539
CCATCAGTAAATGGAGTGAGAAGGTTCTCTGACATCCAAATCCGAAGGTTAAAG | AGACTA c.1500
P S V N G V R R F S D I Q I R R L K | R L p.500
. . . . . . g.48599
GGCATTGAAAAGACTGACCCTACCACACTGACAGATGAAGAGATAAACAGATTTGCAAGA c.1560
G I E K T D P T T L T D E E I N R F A R p.520
. . . | 17. . . g.52083
TTGGACATTGATCCAGAAACCATAACTTGGCAAAGAG | TGTTGGATACCAATGATAGATTC c.1620
L D I D P E T I T W Q R V | L D T N D R F p.540
. . . . . | 18 . g.53096
CTGAGGAAGATCACGATTGGACAGGCTCCAACGGAGAAGGGTCACACACGGACG | GCCCAG c.1680
L R K I T I G Q A P T E K G H T R T | A Q p.560
. . . . . . g.53156
TTTGATATCTCTGTGGCCAGTGAAATTATGGCTGTCCTGGCTCTCACCACTTCTCTAGAA c.1740
F D I S V A S E I M A V L A L T T S L E p.580
. . . . . . g.53216
GACATGAGAGAGAGACTGGGCAAAATGGTGGTGGCATCCAGTAAGAAAGGAGAGCCCGTC c.1800
D M R E R L G K M V V A S S K K G E P V p.600
. | 19 . . . . . g.54394
AGTGCCGAAGATCTG | GGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAG c.1860
S A E D L | G V S G A L T V L M K D A I K p.620
. . | 20 . . . . g.55054
CCCAATCTCATGCAGACACTGGAG | GGCACTCCAGTGTTTGTCCATGCTGGCCCGTTTGCC c.1920
P N L M Q T L E | G T P V F V H A G P F A p.640
. . . . . . g.55114
AACATCGCACATGGCAATTCCTCCATCATTGCAGACCGGATCGCACTCAAGCTTGTTGGC c.1980
N I A H G N S S I I A D R I A L K L V G p.660
. | 21 . . . . . g.55271
CCAGAAGGGTTTGTAG | TGACGGAAGCAGGATTTGGAGCAGACATTGGAATGGAAAAGTTT c.2040
P E G F V V | T E A G F G A D I G M E K F p.680
. . . . . . g.55331
TTTAACATCAAATGCCGGTATTCCGGCCTCTGCCCCCACGTGGTGGTGCTTGTTGCCACT c.2100
F N I K C R Y S G L C P H V V V L V A T p.700
. . . | 22 . . . g.57681
GTCAGGGCTCTCAAGATGCACGGGGGCGGCCCCACG | GTCACTGCTGGACTGCCTCTTCCC c.2160
V R A L K M H G G G P T | V T A G L P L P p.720
. | 23 . . . . g.61223
AAGGCTTACATACAGGAG | AACCTGGAGCTGGTTGAAAAAGGCTTCAGTAACTTGAAGAAA c.2220
K A Y I Q E | N L E L V E K G F S N L K K p.740
. . . . . | 24 g.62410
CAAATTGAAAATGCCAGAATGTTTGGAATTCCAGTAGTAGTGGCCGTGAATGCATTCAA | G c.2280
Q I E N A R M F G I P V V V A V N A F K | p.760
. . . . . . g.62470
ACGGATACAGAGTCTGAGCTGGACCTCATCAGCCGCCTTTCCAGAGAACATGGGGCTTTT c.2340
T D T E S E L D L I S R L S R E H G A F p.780
. . . . . . g.62530
GATGCCGTGAAGTGCACTCACTGGGCAGAAGGGGGCAAGGGTGCCTTAGCCCTGGCTCAG c.2400
D A V K C T H W A E G G K G A L A L A Q p.800
. . . . . | 25. g.66721
GCCGTCCAGAGAGCAGCACAAGCACCCAGCAGCTTCCAGCTCCTTTATGACCTCAAG | CTC c.2460
A V Q R A A Q A P S S F Q L L Y D L K | L p.820
. . . . . . g.66781
CCAGTTGAGGATAAAATCAGGATCATTGCACAGAAGATCTATGGAGCAGATGACATTGAA c.2520
P V E D K I R I I A Q K I Y G A D D I E p.840
. . . . | 26 . . g.67702
TTACTTCCCGAAGCTCAACACAAAGCTGAAGTCTACACGAAGCAG | GGCTTTGGGAATCTC c.2580
L L P E A Q H K A E V Y T K Q | G F G N L p.860
. . . . . . g.67762
CCCATCTGCATGGCTAAAACACACTTGTCTTTGTCTCACAACCCAGAGCAAAAAGGTGTC c.2640
P I C M A K T H L S L S H N P E Q K G V p.880
. . . . . . g.67822
CCTACAGGCTTCATTCTGCCCATTCGCGACATCCGCGCCAGCGTTGGGGCTGGTTTTCTG c.2700
P T G F I L P I R D I R A S V G A G F L p.900
. | 27 . . . . g.71220
TACCCCTTAGTAGGAACG | ATGAGCACAATGCCTGGACTCCCCACCCGGCCCTGTTTTTAT c.2760
Y P L V G T | M S T M P G L P T R P C F Y p.920
. . . . g.71268
GATATTGATTTGGACCCTGAAACAGAACAGGTGAATGGATTATTCTAA | c.2809
D I D L D P E T E Q V N G L F X p.935
| 28 . . . . . . g.72779
acag | atcaccatccatcttcaagaagctactttgaaagtctggccagtgtctattcaggc c.*60
. . . . . . g.72839
ccactgggagttaggaagtataagtaagccaagagaagtcagcccctgcccagaagatct c.*120
. . . . . . g.72899
gaaactaatagtaggagtttccccagaagtcattttcagccttaattctcatcatgtata c.*180
. . . . . . g.72959
aattaacataaatcatgcatgtctgtttactttagtgacgttccacagaataaaaggaaa c.*240
. g.72972
caagtttgccatc c.*253
(downstream sequence)
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