(used for variant description)
(last modified May 29, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_032018.5 in the SPRTN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering SPRTN transcript NM_032018.5.
(upstream sequence)
. . g.5028
tgcgcagcaatgccatcggttaaagcgc c.-421
. . . . . . g.5088
atgcgcaagatgagctattgcggaagtgaggggagggagaggccgagagaaatttcggta c.-361
. . . . . . g.5148
ctgcgcatgaaccgagcgtgacgttgaggtttgaaataaccggcaaagagtaaaggctga c.-301
. . . . . . g.5208
aactagcttcctgaaagcttcgtagggcccgagccctgtgagcccaggttctgcgcccac c.-241
. . . . . . g.5268
taggaggtgtcatgctgactgctttttttaaagccctagaatcttggcttcggcgtttgg c.-181
. . . . . . g.5328
ggtaagctccgttctcgttctcaagcgcgtttccgcgaactctcgcgggattgacgggcc c.-121
. . . . . . g.5388
gtctcgagagccggcatctcctaggagctagtcctggtcctcggctaggcggcttggggt c.-61
. . . . . . g.5448
cgcggcgtaactggggagccagcctgacgccggcggaccccgcctgtgatcctggcaacg c.-1
. . . . . . g.5508
ATGGATGATGACTTGATGTTGGCACTGCGGCTTCAGGAGGAGTGGAACTTGCAGGAGGCG c.60
M D D D L M L A L R L Q E E W N L Q E A p.20
. . . . . . g.5568
GAGCGCGATCATGCCCAGGAGTCCCTGTCGCTAGTGGACGCGTCGTGGGAGTTGGTGGAC c.120
E R D H A Q E S L S L V D A S W E L V D p.40
. . . . . . g.5628
CCCACACCGGACTTGCAGGCACTGTTTGTTCAGTTTAACGACCAATTCTTCTGGGGCCAG c.180
P T P D L Q A L F V Q F N D Q F F W G Q p.60
. . . . | 02 . . g.6852
CTGGAGGCCGTCGAGGTGAAGTGGAGCGTGCGAATGACCCT | GTGTGCTGGGATATGCAGC c.240
L E A V E V K W S V R M T L | C A G I C S p.80
. . . . . . g.6912
TATGAAGGGAAGGGTGGAATGTGTTCCATCCGTCTCAGCGAACCCCTTTTGAAGTTGAGG c.300
Y E G K G G M C S I R L S E P L L K L R p.100
. . | 03 . . . . g.14900
CCAAGAAAGGATCTTGTAGAG | ACCCTCCTGCATGAAATGATACATGCCTATTTATTTGTC c.360
P R K D L V E | T L L H E M I H A Y L F V p.120
. . . . . . g.14960
ACTAATAACGACAAAGACCGAGAAGGGCATGGTCCAGAATTTTGTAAACATATGCATCGC c.420
T N N D K D R E G H G P E F C K H M H R p.140
. . . | 04 . . . g.18398
ATCAACAGCCTGACTGGAGCCAATATAACG | GTATACCATACTTTTCACGATGAGGTGGAT c.480
I N S L T G A N I T | V Y H T F H D E V D p.160
. . . . . . g.18458
GAGTATCGGCGACACTGGTGGCGCTGCAATGGGCCGTGCCAGCACAGGCCACCGTATTAC c.540
E Y R R H W W R C N G P C Q H R P P Y Y p.180
. . . . . . g.18518
GGCTATGTCAAACGAGCTACTAACAGGGAACCCTCTGCTCATGACTATTGGTGGGCTGAG c.600
G Y V K R A T N R E P S A H D Y W W A E p.200
. . . . . . g.18578
CACCAGAAAACCTGTGGAGGCACTTACATAAAAATCAAGGAACCAGAGAATTACTCAAAA c.660
H Q K T C G G T Y I K I K E P E N Y S K p.220
. . . . . | 05 g.19676
AAAGGCAAAGGAAAGGCAAAACTAGGAAAGGAACCAGTATTGGCCGCAGAGAATAAAG | AT c.720
K G K G K A K L G K E P V L A A E N K D | p.240
. . . . . . g.19736
AAACCCAACAGAGGTGAGGCCCAGCTAGTAATCCCTTTTAGTGGGAAAGGATATGTTCTA c.780
K P N R G E A Q L V I P F S G K G Y V L p.260
. . . . . . g.19796
GGAGAAACAAGCAATTTACCTTCACCTGGGAAACTGATCACTTCACATGCCATTAATAAA c.840
G E T S N L P S P G K L I T S H A I N K p.280
. . . . . . g.19856
ACCCAAGATCTTTTAAATCAAAACCATTCAGCAAATGCTGTAAGACCTAATTCTAAAATC c.900
T Q D L L N Q N H S A N A V R P N S K I p.300
. . . . . . g.19916
AAGGTGAAATTTGAACAGAATGGTTCAAGTAAAAATTCTCATCTGGTCTCCCCTGCTGTT c.960
K V K F E Q N G S S K N S H L V S P A V p.320
. . . . . . g.19976
AGTAACAGTCACCAAAATGTTCTAAGCAACTACTTTCCTAGAGTATCATTTGCCAACCAA c.1020
S N S H Q N V L S N Y F P R V S F A N Q p.340
. . . . . . g.20036
AAGGCTTTCAGAGGTGTGAATGGATCTCCAAGGATAAGTGTAACAGTTGGCAACATCCCT c.1080
K A F R G V N G S P R I S V T V G N I P p.360
. . . . . . g.20096
AAAAACTCAGTCTCTTCTAGTTCTCAGAGAAGGGTTTCATCTTCTAAGATATCCCTAAGA c.1140
K N S V S S S S Q R R V S S S K I S L R p.380
. . . . . . g.20156
AATTCTTCAAAAGTAACGGAATCAGCATCTGTGATGCCATCCCAGGATGTGAGTGGGTCT c.1200
N S S K V T E S A S V M P S Q D V S G S p.400
. . . . . . g.20216
GAAGATACATTCCCAAATAAACGACCTAGGCTAGAAGATAAGACTGTTTTTGACAATTTT c.1260
E D T F P N K R P R L E D K T V F D N F p.420
. . . . . . g.20276
TTTATCAAGAAAGAGCAAATAAAAAGCAGTGGTAATGATCCAAAGTATAGTACAACCACA c.1320
F I K K E Q I K S S G N D P K Y S T T T p.440
. . . . . . g.20336
GCTCAGAATTCCAGCAGTTCATCCAGTCAGAGCAAAATGGTTAATTGCCCAGTTTGTCAG c.1380
A Q N S S S S S S Q S K M V N C P V C Q p.460
. . . . . . g.20396
AATGAAGTTCTGGAGTCTCAGATTAATGAGCACTTGGACTGGTGCCTTGAAGGTGACAGC c.1440
N E V L E S Q I N E H L D W C L E G D S p.480
. . . g.20426
ATCAAAGTCAAAAGCGAAGAAAGTCTTTGA c.1470
I K V K S E E S L X p.489
. . . . . . g.20486
aaaaggtttcaaagtctcaagtaccacctgtattatctcactaatgtgctatgtcagcca c.*60
. . . . . . g.20546
gtcaggaagttctggttaatactaagatttgtaggttataatctagttcacataaccaat c.*120
. . . . . . g.20606
agaaagtgtcctattttatatatacgcatataagattgtaattttaagatgttttgtgtc c.*180
. . . . . . g.20666
tcagggtgctacattcactcttgccttaggtatactgtaacccaggttctgcctgtcgtg c.*240
. . . . . . g.20726
tataagttttagatacttttgttctttcttgctcttaaggattttaaaaacctgttaatc c.*300
. . . . . . g.20786
tttttatttgtatactttcctaaaaatattcatatggggaatcctgtcaggtgtttggtt c.*360
. . . . . . g.20846
atattgactatttattaatagtattagaactcattccctgaactgatgtaaatcttcata c.*420
. . . . . . g.20906
gtgtcagacatactgaccaaaaccacaatctagactacaaagtatattgttttagagtac c.*480
. . . . . . g.20966
tcaaattgtattatttattaatttttttgtttgcaaaatcttaacaggaactgtattttc c.*540
. . . . . . g.21026
tatattttaaagaattttatttgtcccacttttactaaacagtggcagcagattttaagt c.*600
. . . . . . g.21086
taaagaatatggaatatagtaaaataagtaaatttcttttggaatatttttagtaacaaa c.*660
. . . . . . g.21146
tagccactataattctgtaggccaaattttatattgagtttagctgttttctcaaaattt c.*720
. . . . . . g.21206
agcagagtggttaaaattctgtgctgataagtaactgatacatataacataaacataaca c.*780
. . . . . . g.21266
aagttgcctagttgatgtaacagtggaaagttatctggaaatagtattttgaactttaag c.*840
. . . . . . g.21326
ccaagtttaaaacattataataaaaggaataccatttgtgcattttaagtaatctttttt c.*900
. . . . . . g.21386
aaaaaaaatattttccatgttatagggaaaggacaaagagacttttatcagtttgctttt c.*960
. . . . . . g.21446
tgtcttgtggctgtacatgctgttggcatagccctaacacagttgttcacaagttttctt c.*1020
. . . . . . g.21506
ttttcttgttgcaattttccttcactttgttgtaatacaggtgcacaaatcttaagtgca c.*1080
. . . . . . g.21566
cagctgggtaaacttttacagtgttcacctgtgtaactaccacccggatcaagttagaga c.*1140
. . . . . . g.21626
acacttccattgccacagaaggcttcctataggtgtctgttcccagttgatacccatgac c.*1200
. . . . . . g.21686
cctcaccacctccagaggtccccactgttttcaccccatcgtcgcagattattttttaat c.*1260
. . . . . . g.21746
tttataatgtagtatctttgttcctatgtatagcaggagttcattttcattgctcttgca c.*1320
. . . . . . g.21806
tttgtatgaatatactagaatttattcatccattctaatgttaatggacatttgaattat c.*1380
. . . . . . g.21866
ttccagtttggggctgttaagcataatgctgctaagaacattcttatcttttctgttggg c.*1440
. . . . . . g.21926
tatatatacaggaatggaattgctgagtcacggggtatatttctgtttagctttagtaaa c.*1500
. . . . . . g.21986
ttctgccagtttacactcctaccagcaatgtatgagagttttagttgttcaccattcata c.*1560
. . . . . . g.22046
acactgttagcagcccttttcgttttagactggttggctgttcacaaattttgatattcc c.*1620
. . . . g.22088
ttaaagcattaaaacattttaataaatacttataaataggta c.*1662
(downstream sequence)
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