(used for variant description)
(last modified January 12, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_006295.2 in the VARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028229.1, covering VARS transcript NM_006295.2.
(upstream sequence)
g.5003
gcg c.-421
. . . . . . g.5063
cctgacgggagcgtcgtgctcaggggtgtcctctcgtcctgcgtccgcgcccagcgcccc c.-361
. . . . . . g.5123
gcgccccgcgctgttcctcgtgagaccggcgggcggcgagccgcgcggcccccggggcag c.-301
. . . . . . g.5183
tgtcggacacggcgggcgcgcactcgcaggcggggcacggccgcccccgccaggacccgc c.-241
. . . . . . g.5243
aggcccggaaacgctccctgtcacaaaggggggaacacgtgggcgccggctgccggggcg c.-181
. . . . . . g.5303
gcgatcttagggaactagggtcacctggagagccgcccaccgtctctgcccgctcgactc c.-121
. . . . . . g.5363
ctccgcccgggccgctcggccggtccagccgcggccggcgcctggctgtgaggtggattc c.-61
. . . | 02 . . . g.5718
ccggcccagtctgaccatctccctcca | gtttttccacttcgttcggaccttctcataact c.-1
. . . . . . g.5778
ATGTCCACCCTCTACGTCTCCCCTCACCCAGATGCCTTCCCCAGCCTCCGAGCCCTCATA c.60
M S T L Y V S P H P D A F P S L R A L I p.20
. . . . . . g.5838
GCCGCTCGCTATGGGGAGGCTGGGGAGGGTCCCGGATGGGGAGGAGCCCACCCCCGCATC c.120
A A R Y G E A G E G P G W G G A H P R I p.40
. . . . . . g.5898
TGTCTCCAGCCACCCCCGACTAGCAGGACTCCCTTTCCCCCACCCCGCCTGCCGGCCCTG c.180
C L Q P P P T S R T P F P P P R L P A L p.60
. . . . . . g.5958
GAGCAGGGGCCCGGTGGGCTCTGGGTGTGGGGGGCCACGGCTGTGGCCCAGCTGCTGTGG c.240
E Q G P G G L W V W G A T A V A Q L L W p.80
. . . . . . g.6018
CCAGCAGGCCTGGGGGGCCCAGGGGGCAGCCGGGCGGCTGTCCTTGTCCAACAGTGGGTC c.300
P A G L G G P G G S R A A V L V Q Q W V p.100
. . . . . . g.6078
AGTTACGCCGACACGGAGTTAATACCAGCTGCCTGTGGAGCAACGCTGCCGGCCCTGGGA c.360
S Y A D T E L I P A A C G A T L P A L G p.120
. . | 03. . . . g.7848
CTCCGAAGCTCGGCCCAGGACCCCCAG | GCTGTGCTGGGGGCCCTGGGCAGGGCCCTGAGC c.420
L R S S A Q D P Q | A V L G A L G R A L S p.140
. . . . . . g.7908
CCCTTGGAGGAGTGGCTTCGGCTGCACACCTACTTGGCCGGGGAGGCCCCCACTCTGGCT c.480
P L E E W L R L H T Y L A G E A P T L A p.160
. . . . | 04 . . g.8058
GACCTGGCGGCTGTCACAGCCTTGCTGCTGCCTTTCCGATAC | GTCCTAGACCCACCTGCC c.540
D L A A V T A L L L P F R Y | V L D P P A p.180
. . . . . . g.8118
CGCCGGATCTGGAATAATGTGACTCGCTGGTTTGTCACGTGTGTCCGGCAGCCAGAATTC c.600
R R I W N N V T R W F V T C V R Q P E F p.200
. . . . . . g.8178
CGAGCCGTGCTAGGAGAAGTGGTTCTATACTCAGGAGCCAGGCCTCTCTCTCATCAGCCA c.660
R A V L G E V V L Y S G A R P L S H Q P p.220
| 05 . . . . . . g.8478
G | GCCCCGAGGCTCCTGCCCTCCCAAAGACAGCTGCTCAGCTCAAGAAAGAGGCAAAGAAA c.720
G | P E A P A L P K T A A Q L K K E A K K p.240
. . . . . . g.8538
CGGGAGAAGCTAGAGAAATTCCAACAGAAGCAGAAGATCCAACAGCAGCAGCCACCTCCA c.780
R E K L E K F Q Q K Q K I Q Q Q Q P P P p.260
| 06 . . . . . . g.8688
GGGGAG | AAGAAACCAAAACCAGAGAAGAGGGAGAAACGGGATCCTGGGGTCATTACCTAT c.840
G E | K K P K P E K R E K R D P G V I T Y p.280
. . . | 07 . . . g.8993
GACCTCCCAACCCCACCCGGGGAAAAGAAAG | ATGTCAGTGGCCCCATGCCCGACTCCTAC c.900
D L P T P P G E K K D | V S G P M P D S Y p.300
. . . . . . g.9053
AGCCCTCGGTATGTGGAGGCTGCCTGGTACCCTTGGTGGGAGCAGCAGGGCTTCTTCAAG c.960
S P R Y V E A A W Y P W W E Q Q G F F K p.320
. | 08 . . . . . g.9246
CCAGAGTATGGG | CGTCCTAATGTGTCAGCAGCAAATCCCCGAGGTGTCTTCATGATGTGC c.1020
P E Y G | R P N V S A A N P R G V F M M C p.340
. . . . . . g.9306
ATCCCACCCCCCAATGTGACAGGCTCCCTGCACCTGGGCCATGCACTCACCAACGCCATC c.1080
I P P P N V T G S L H L G H A L T N A I p.360
. . | 09 . . . . g.15242
CAGGACTCCCTGACTCGATG | GCACCGCATGCGTGGGGAGACCACCCTGTGGAACCCTGGC c.1140
Q D S L T R W | H R M R G E T T L W N P G p.380
. . . . . . g.15302
TGTGACCATGCAGGTATTGCCACCCAGGTGGTGGTGGAGAAGAAGCTATGGCGTGAGCAG c.1200
C D H A G I A T Q V V V E K K L W R E Q p.400
. . . . . . g.15362
GGACTGAGCCGGCACCAGCTGGGCCGCGAGGCCTTTCTACAGGAAGTCTGGAAGTGGAAG c.1260
G L S R H Q L G R E A F L Q E V W K W K p.420
| 10 . . . . . . g.15663
GAGGA | GAAAGGTGACCGGATTTACCACCAGTTGAAGAAGCTTGGCAGCTCCTTGGACTGG c.1320
E E | K G D R I Y H Q L K K L G S S L D W p.440
. . | 11. . . . g.16254
GATCGAGCCTGTTTCACCATGGACCCT | AAACTCTCAGCAGCTGTGACAGAGGCCTTTGTC c.1380
D R A C F T M D P | K L S A A V T E A F V p.460
. . . . . . g.16314
CGGCTTCACGAGGAAGGCATCATCTATCGCAGTACCCGCCTTGTTAACTGGTCCTGCACC c.1440
R L H E E G I I Y R S T R L V N W S C T p.480
. . | 12. . . . g.16466
CTCAACTCCGCCATCTCTGACATTGAG | GTGGATAAGAAGGAGCTGACAGGTCGCACCCTG c.1500
L N S A I S D I E | V D K K E L T G R T L p.500
. . . . . . g.16526
CTCTCCGTGCCTGGCTACAAGGAGAAGGTGGAGTTCGGGGTCCTCGTGTCCTTTGCCTAT c.1560
L S V P G Y K E K V E F G V L V S F A Y p.520
. | 13 . . . . . g.16671
AAGGTCCAAGGCTCAG | ATAGCGACGAGGAGGTGGTGGTGGCAACAACTCGGATCGAGACA c.1620
K V Q G S D | S D E E V V V A T T R I E T p.540
. . . . . | 14 . g.17758
ATGCTGGGAGATGTGGCTGTAGCTGTGCACCCCAAAGATACCAGATACCAG | CACCTGAAG c.1680
M L G D V A V A V H P K D T R Y Q | H L K p.560
. . . . . . g.17818
GGGAAGAACGTGATCCACCCATTCCTGTCTCGGAGCCTTCCCATTGTCTTCGATGAATTT c.1740
G K N V I H P F L S R S L P I V F D E F p.580
. . | 15 . . . . g.18128
GTGGACATGGACTTTGGCACAG | GTGCTGTGAAGATCACCCCCGCACATGACCAAAATGAC c.1800
V D M D F G T G | A V K I T P A H D Q N D p.600
. . . . . . g.18188
TATGAAGTTGGGCAGCGGCACGGGCTGGAGGCCATCAGCATCATGGACTCCCGGGGGGCC c.1860
Y E V G Q R H G L E A I S I M D S R G A p.620
. . | 16. . . . g.18335
CTCATCAATGTGCCTCCGCCTTTCCTG | GGCCTGCCCAGGTTTGAGGCCAGGAAAGCGGTG c.1920
L I N V P P P F L | G L P R F E A R K A V p.640
. . . . . . g.18395
CTGGTGGCGCTGAAGGAGCGGGGACTGTTCCGTGGCATTGAGGACAACCCCATGGTGGTG c.1980
L V A L K E R G L F R G I E D N P M V V p.660
. | 17 . . . . . g.18541
CCACTTTGCAA | CCGGTCGAAGGACGTGGTAGAGCCTCTGCTGCGGCCGCAGTGGTACGTT c.2040
P L C N | R S K D V V E P L L R P Q W Y V p.680
. . . . . . g.18601
CGCTGCGGGGAGATGGCCCAGGCTGCCAGCGCCGCTGTGACTCGGGGTGACCTCCGCATC c.2100
R C G E M A Q A A S A A V T R G D L R I p.700
. . . . . | 18 . g.18768
CTGCCTGAGGCCCATCAGCGCACATGGCATGCCTGGATGGACAACATCCG | GGAGTGGTGC c.2160
L P E A H Q R T W H A W M D N I R | E W C p.720
. . . . . . g.18828
ATTTCCAGGCAGCTGTGGTGGGGCCATCGCATCCCAGCCTACTTTGTCACTGTCAGTGAC c.2220
I S R Q L W W G H R I P A Y F V T V S D p.740
. . | 19 . . . . g.19022
CCAGCGGTGCCCCCTGGGGAG | GACCCTGATGGGCGGTACTGGGTGAGTGGACGCAATGAG c.2280
P A V P P G E | D P D G R Y W V S G R N E p.760
. . . . . . g.19082
GCGGAGGCCCGGGAGAAGGCAGCCAAGGAGTTCGGAGTGTCCCCTGACAAGATCAGTCTC c.2340
A E A R E K A A K E F G V S P D K I S L p.780
| 20. . . . . . g.19227
CAGCAAG | ATGAGGATGTATTGGATACCTGGTTCTCCTCTGGCCTCTTCCCCTTATCCATT c.2400
Q Q D | E D V L D T W F S S G L F P L S I p.800
. | 21 . . . . g.19371
TTGGGCTGGCCCAACCAG | TCAGAAGACCTGAGTGTGTTCTACCCCGGGACACTGCTGGAG c.2460
L G W P N Q | S E D L S V F Y P G T L L E p.820
. . . . . . g.19431
ACCGGTCATGACATCCTCTTCTTCTGGGTGGCCCGGATGGTCATGCTGGGCCTGAAGCTC c.2520
T G H D I L F F W V A R M V M L G L K L p.840
. . | 22 . . . . g.19848
ACGGGCAGGCTGCCCTTTAGAGAG | GTCTACCTCCATGCCATCGTGCGAGATGCTCACGGC c.2580
T G R L P F R E | V Y L H A I V R D A H G p.860
. . . . . . g.19908
CGGAAGATGAGCAAGTCTCTAGGCAATGTCATCGATCCCCTGGACGTCATCTATGGAATC c.2640
R K M S K S L G N V I D P L D V I Y G I p.880
| 23 . . . . . g.20048
TCCCTGCAG | GGCCTCCACAACCAGCTGCTGAACAGCAACCTGGATCCCAGCGAGGTGGAG c.2700
S L Q | G L H N Q L L N S N L D P S E V E p.900
. | 24 . . . . g.20194
AAGGCCAAAGAAGGGCAG | AAAGCTGACTTCCCAGCGGGGATTCCTGAATGTGGCACCGAT c.2760
K A K E G Q | K A D F P A G I P E C G T D p.920
. . . | 25. . . g.20390
GCTCTCCGGTTTGGATTATGTGCCTACATGTCCCAGG | GTCGTGACATCAACCTGGATGTG c.2820
A L R F G L C A Y M S Q G | R D I N L D V p.940
. . . . . . g.20450
AACCGGATACTGGGTTACCGCCACTTCTGCAACAAGCTCTGGAATGCCACCAAGTTTGCC c.2880
N R I L G Y R H F C N K L W N A T K F A p.960
. . . . | 26 . . g.20797
CTTCGTGGCCTTGGGAAGGGTTTTGTGCCCTCACCCACCTCCCAG | CCCGGAGGCCATGAG c.2940
L R G L G K G F V P S P T S Q | P G G H E p.980
. . . . . . g.20857
AGCCTGGTGGACCGCTGGATCCGCAGCCGCCTGACAGAGGCTGTGAGGCTCAGCAATCAA c.3000
S L V D R W I R S R L T E A V R L S N Q p.1000
. . . . . . g.20917
GGCTTCCAGGCCTACGACTTCCCGGCCGTCACCACTGCCCAGTACAGCTTCTGGCTCTAT c.3060
G F Q A Y D F P A V T T A Q Y S F W L Y p.1020
. . | 27 . . . . g.21160
GAGCTCTGTGATGTCTACTTG | GAGTGCCTGAAACCTGTACTGAATGGGGTGGACCAGGTG c.3120
E L C D V Y L | E C L K P V L N G V D Q V p.1040
. . . . . . g.21220
GCAGCTGAGTGTGCCCGCCAGACCCTGTACACTTGCCTGGACGTTGGCCTGCGGCTGCTC c.3180
A A E C A R Q T L Y T C L D V G L R L L p.1060
. . . . . . g.21280
TCACCCTTCATGCCCTTCGTGACGGAGGAGCTGTTCCAGAGGCTGCCCCGGAGGATGCCG c.3240
S P F M P F V T E E L F Q R L P R R M P p.1080
. . . . | 28 . g.21411
CAAGCTCCCCCTAGCCTCTGTGTTACCCCCTACCCGGAGCCCTCAGAG | TGCTCCTGGAAG c.3300
Q A P P S L C V T P Y P E P S E | C S W K p.1100
. . . . . . g.21471
GACCCCGAGGCAGAAGCCGCCCTTGAGCTGGCGCTAAGCATCACGCGAGCCGTGCGCTCC c.3360
D P E A E A A L E L A L S I T R A V R S p.1120
. . . . | 29 . . g.21663
CTGCGGGCCGACTACAACCTCACCCGGATCCGGCCTGACT | GTTTCCTGGAAGTGGCGGAT c.3420
L R A D Y N L T R I R P D C | F L E V A D p.1140
. . . . . . g.21723
GAGGCCACGGGCGCCCTGGCATCGGCGGTGTCGGGCTACGTGCAGGCCCTGGCCAGCGCA c.3480
E A T G A L A S A V S G Y V Q A L A S A p.1160
. . . . . . g.21783
GGTGTGGTGGCTGTTCTGGCCCTGGGGGCTCCCGCCCCCCAGGGTTGCGCTGTGGCTCTG c.3540
G V V A V L A L G A P A P Q G C A V A L p.1180
. . . . . . g.21843
GCTTCTGATCGCTGCTCCATCCACCTGCAGCTTCAGGGGCTGGTGGACCCTGCACGGGAG c.3600
A S D R C S I H L Q L Q G L V D P A R E p.1200
. . . . . . g.21903
CTGGGCAAGCTGCAAGCCAAGCGAGTTGAGGCCCAGCGGCAGGCCCAGCGTCTGCGGGAA c.3660
L G K L Q A K R V E A Q R Q A Q R L R E p.1220
. . . . . . g.21963
CGCCGTGCTGCCTCGGGCTATCCTGTCAAGGTGCCGCTCGAAGTCCAGGAGGCAGATGAA c.3720
R R A A S G Y P V K V P L E V Q E A D E p.1240
| 30 . . . . . . g.23327
GCCAAG | CTCCAACAGACAGAAGCAGAGCTCAGGAAGGTGGATGAGGCCATCGCCCTATTC c.3780
A K | L Q Q T E A E L R K V D E A I A L F p.1260
. g.23342
CAGAAGATGCTGTGA c.3795
Q K M L X p.1264
. . . . . . g.23402
tccaccacccagcttcacccctcacccccagcggctcaccatggggatggcagcaataaa c.*60
. g.23418
atattttcccacaaaa c.*76
(downstream sequence)
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