(used for variant description)
(last modified November 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_138459.3 in the NUS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054913.1, covering NUS1 transcript NM_138459.3.(upstream sequence) . . . g.5037 atcggaactgtccatgtactactgggggcggggctgc c.-181 . . . . . . g.5097 caagggaggaggaagatggcggcgggggcgaggtgaggtgttggcagtggaaaggggttc c.-121 . . . . . . g.5157 gggctcggggggcggggggacgcggagcgatggcccgcgccggccgcaggggcggataaa c.-61 . . . . . . g.5217 aagccgtcgcgctgcgggagtgggcgggagggagagggggtgtctgagggccacaagagt c.-1 . . . . . . g.5277 ATGACGGGGCTGTACGAGCTGGTGTGGCGGGTGCTGCACGCGCTGCTCTGTCTGCACCGC c.60 M T G L Y E L V W R V L H A L L C L H R p.20 . . . . . . g.5337 ACGCTCACCTCCTGGCTCCGCGTTCGGTTCGGCACCTGGAACTGGATCTGGCGGCGCTGC c.120 T L T S W L R V R F G T W N W I W R R C p.40 . . . . . . g.5397 TGCCGCGCCGCCTCTGCCGCGGTCCTAGCGCCGCTCGGCTTCACGCTCCGCAAGCCCCCG c.180 C R A A S A A V L A P L G F T L R K P P p.60 . . . . . . g.5457 GCAGTCGGCAGGAACCGCCGTCACCACCGGCACCCGCGCGGGGGGTCGTGCCTGGCAGCC c.240 A V G R N R R H H R H P R G G S C L A A p.80 . . . . . . g.5517 GCACACCACCGGATGCGCTGGCGCGCGGACGGTCGTTCCTTGGAGAAGCTGCCTGTGCAT c.300 A H H R M R W R A D G R S L E K L P V H p.100 . . . . . . g.5577 ATGGGCCTGGTGATCACCGAGGTGGAGCAGGAACCCAGCTTCTCGGACATCGCGAGCCTC c.360 M G L V I T E V E Q E P S F S D I A S L p.120 . . . . . | 02 . g.22593 GTGGTGTGGTGTATGGCCGTGGGCATCTCCTACATTAGCGTCTACGACCACCAAG | GTATT c.420 V V W C M A V G I S Y I S V Y D H Q G | I p.140 . . . . . . g.22653 TTCAAAAGAAATAATTCCAGATTGATGGATGAAATTTTAAAACAACAGCAAGAACTTCTG c.480 F K R N N S R L M D E I L K Q Q Q E L L p.160 . . . . . . g.22713 GGCCTAGATTGTTCAAAATACTCACCAGAATTTGCAAATAGTAATGACAAAGATGATCAA c.540 G L D C S K Y S P E F A N S N D K D D Q p.180 | 03 . . . . . . g.23636 G | TTTTAAATTGCCATTTGGCAGTGAAGGTGCTGTCTCCGGAAGATGGAAAAGCAGATATT c.600 V | L N C H L A V K V L S P E D G K A D I p.200 . . . . . . g.23696 GTAAGAGCTGCTCAGGACTTTTGCCAGTTAGTAGCCCAGAAGCAAAAGAGACCCACAGAT c.660 V R A A Q D F C Q L V A Q K Q K R P T D p.220 . . . | 04 . . . g.33180 TTGGATGTAGATACGTTAGCCAGTTTACTTA | GTTCAAATGGTTGTCCTGATCCTGATTTA c.720 L D V D T L A S L L S | S N G C P D P D L p.240 . . . . . . g.33240 GTATTGAAGTTCGGTCCTGTGGACAGCACATTAGGCTTTCTTCCCTGGCACATCAGATTG c.780 V L K F G P V D S T L G F L P W H I R L p.260 . | 05 . . . . . g.36520 ACTGAGATTGT | CTCTTTGCCTTCCCACCTAAACATCAGTTATGAGGACTTTTTCTCTGCC c.840 T E I V | S L P S H L N I S Y E D F F S A p.280 . . . . g.36562 CTTCGTCAATATGCAGCCTGTGAACAGCGTCTGGGAAAGTAG c.882 L R Q Y A A C E Q R L G K X p.293 . . . . . . g.36622 tggtcattggttgcataatttgatttgaggcttgtggaggaaaggaaccaagtgactctg c.*60 . . . . . . g.36682 atgtttacaaagcacctatgaaaccctgtacacacctagttcataatcctcataatttat c.*120 . . . . . . g.36742 caacaaacacaaaaaagtgtcttacttgagagtgagtgtgtgtgtgtgcgtgtgcacgtg c.*180 . . . . . . g.36802 cacacatgtgcacgtttgtatgtatggaaataaacttataaatggggacgtattggagaa c.*240 . . . . . . g.36862 ggaaatacatagacctacaactttgagcaaatagcagtgatgttttaggaactgaaatgt c.*300 . . . . . . g.36922 cacacttaaagtcttcagcccagctacttccctatttttgtggggagaagagggcctgat c.*360 . . . . . . g.36982 tagaactgttctggttgtgtttggcgggaggggaataatttttgttcagtccttcttagt c.*420 . . . . . . g.37042 gaccaaactttaatttttaagaataatatattgacttactgaactgaagcattctgagtt c.*480 . . . . . . g.37102 gaaaggagctccagaggagtggagttctgtgttgctcacatgttaaaatcttgctcacct c.*540 . . . . . . g.37162 tcagagcagagggaatacctatcttcagatatccgtccattttcatctcttaattgtagt c.*600 . . . . . . g.37222 caaaagtatgacttgagagtgttgctctggtattctgggttctgaagtctggtattctgg c.*660 . . . . . . g.37282 tattctgggttcaaaagtatgacttgagagtgttgctctggtattctgagagttgctctg c.*720 . . . . . . g.37342 tattctgggttctgaagattatttgaaaaataactcctactacattgaaatgcagactta c.*780 . . . . . . g.37402 aaaatttaaacattggattaggcagtcaaaaaaaccaagcaagcataaaaggtcaataag c.*840 . . . . . . g.37462 ttgtaatcttgatagtaaaggtggaaaacttattataaatggaaagaaagttttatttcc c.*900 . . . . . . g.37522 ttttttgtttgatgggcagtatgccatattatacccaaagttcttttaaaaaatatttcc c.*960 . . . . . . g.37582 atcaaccatttttatttaaaataaacatttgagggaagttaccaaggcagcttttttcct c.*1020 . . . . . . g.37642 caaaagtaacctgttcctctttggaatagcacattttaggggcatggttaatacctgaga c.*1080 . . . . . . g.37702 tttttactcagtaaatcctgatggttactgtgtgtaaaatatctttaagtaggattgaag c.*1140 . . . . . . g.37762 gcctctgtgggggaataaaatattaccaaagtctataaaaataaattttacatgttctct c.*1200 . . . . . . g.37822 tttatgacagagagcagcactggttctgttatttttaaaatgaataattgatttcttgat c.*1260 . . . . . . g.37882 aggtgtttaatatttcttccctcactgctgattcttagatagaaaccattctttatattt c.*1320 . . . . . . g.37942 gatagactgctttcagaaaacccttatcaacaagtgtacaatacttatctaaaactatac c.*1380 . . . . . . g.38002 atttagaatggagcagtttaatactagatctcagaagttttgaaaaatagcaaagaagac c.*1440 . . . . . . g.38062 tggatttggaaagcatggtctacaattggttgttaaattctgaagctatgaagaataaat c.*1500 . . . . . . g.38122 gtttcaactttggattatgaaaccccatttatgattttttaaatacacttgaaataaaaa c.*1560 . . . . . . g.38182 tgattaaactaaattttggtccagtgacattactttgcactgcataatccattatacgtt c.*1620 . . . . . . g.38242 gtacgactttttttttttgttttaatttattactgagagttttgtgtgaagctacagcat c.*1680 . . . . . . g.38302 atctaaccagagaatttctgattccttatactgtgattatattatattgaggcatttgta c.*1740 . . . . . . g.38362 gtgcagctgaagactgaatttatgccttttgtaaacatgataggtataaatgtcttataa c.*1800 . . . . . . g.38422 acattctggagtatgtatagctttaatgaatgaaatttaatggacctgattaaaatgaag c.*1860 . . . . . . g.38482 ggatttaatcgttgttaaagttaagttagtcaaataaattacctactggaatatagccca c.*1920 . . . . . . g.38542 agccagtaaaggtttaatatttgcattttcgtgcttttattttctccttccattcataag c.*1980 . . . . . . g.38602 tatatacttgaaagtacatctgtagcctatgatttgagtctcttgaagttctaggaagag c.*2040 . . . . . . g.38662 gcaaactacaaactactaggattctgatttcagatgtagtcattccagaaccttctcttt c.*2100 . . . . . . g.38722 atgagttcacctgctagtacaatctccacaacttgaatggcattggttgttctgtaattc c.*2160 . . . . . . g.38782 ctgccaaaagcatcacaagttgtacatcatcaaggctccctttgcactcccaagaagaac c.*2220 . . . . . . g.38842 tggtaattttaaacaaaagtatgtgtctttatttgtattggaaaatactgtctttaaatt c.*2280 . . . . . . g.38902 gtttcttgttgacactccccacaatggaaaaattaccgaattaaacctgttttatggatg c.*2340 . . . . . . g.38962 gcagcttggagcatagcaagaagttggaggatttgaattccattcccagttctcattgtg c.*2400 . . . . . . g.39022 ttttgtttcttaaaactataataatcggttactgttataaagtttaaaaggtggttttaa c.*2460 . . . . . . g.39082 tgtgaatagcaaattctggtatatcgtgactaacgcttaagaatgcctgtctttgagagg c.*2520 . . . . . . g.39142 aaggtgttataatattaatgaacagtgccaaatacactgtgcatatctgcaatttaatct c.*2580 . . . . . . g.39202 ttgaatgtatgttactggattagctccctcctcctgtgtgatggtaccatgcatagagtc c.*2640 . . . . . . g.39262 aatcaaatccttgtgatgttttgtatggactttgacaatatgtaaataatgtgtaaagcc c.*2700 . . . . . . g.39322 agtttttatgattaaggaatcaaatttattgaattttattattgaaagttgaaacttaac c.*2760 . . . . . . g.39382 atgtatgaacaaaaaccaataaaagaatatactcttttcattgactatagtattatgtga c.*2820 . . . . . . g.39442 atgctacatttgttctgaacacttaggggctgcaaaaatgtaataagaaatgcatatgac c.*2880 . . . . . . g.39502 tagatagcaatagtgttttttttagatggtatgctcttgattgaaatatattctcacttt c.*2940 . . . . . . g.39562 taccaggttaaacatttggaatcttataatgttacttgctttttgatagataatagtgaa c.*3000 . . . . . . g.39622 ataaattcagctttgccattgctggagttgtcaaaattccacagtaattaaaatttgaat c.*3060 . . . . . . g.39682 ttttaccgaatatgaaatttccaaattaaaaacgtatatgtgtactcttttaaaaaggaa c.*3120 . . . . . . g.39742 tttgatagttcttgtcaaatgagaaaatttaaaggtaagagttatggtttgtcttatgct c.*3180 . . . . . . g.39802 gcatagactattcacctcctaacttgaaggtctaatcataagacaattgtttttttgtgc c.*3240 . . . . . . g.39862 atagttttcatctaaaattaagtttaccaaaggcaaataactgcttactaggaacttcct c.*3300 . . . . . . g.39922 ttagcaaaaattactataaagttcaggacagtttgaaataaaacccaggaaacaagatta c.*3360 . . . . . . g.39982 atgtgagcagttctccaagatcctaactggtgggacataaactatgatgcaatggatagg c.*3420 . . . . . . g.40042 aaaaggtagtgcaaaaagaatttcttaaggtttaaaaaatacacttttcattataggaaa c.*3480 . . . . . . g.40102 aagaagattcagagaaacaaaggaatgtaaccttattgattacatttttggtgatcaccg c.*3540 . . . . . . g.40162 agaattttttgtactatattttaaaaaatgtattctactgtaacaagttaataaagagat c.*3600 . . . . . . g.40222 tttttaaaaaactataaactagaaattgagagtcttgcattctcttttgtatttgattat c.*3660 . . . . . g.40274 tgtgtctggatataaattacaatagcacatgaaaataaaatgttttaaaaaa c.*3712 (downstream sequence)Legend:
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