(used for variant description)
(last modified February 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001127496.1 in the SPRY4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering SPRY4 transcript NM_001127496.1.(upstream sequence) . g.5019 attcataaaaaagccattt c.-241 . . . . . . g.5079 tcccaggcagtggttgcaacatcgccgcggaggtagcgagctgagctgacagcgcggagc c.-181 . . . . . . g.5139 tggcgctgtggagcgcagggagccttgccggttcctccgaccggcgtctgcgagtacagc c.-121 . . . . . . g.5199 ggcggctaacctgccccggcttcaggatttacacagacgtggggcgatgcttgtgaccct c.-61 . . | 02 . . . . g.14947 gcagctcctcaaa | ggcccctagaagcctgtttctccgtacagtccaggacctccagcccc c.-1 . . . . . . g.15007 ATGGAGCCCCCGATCCCACAGAGCGCCCCCTTGACTCCCAACTCAGTCATGGTCCAGCCC c.60 M E P P I P Q S A P L T P N S V M V Q P p.20 . . . . . . g.15067 CTTCTTGACAGCCGGATGTCCCACAGCCGGCTCCAGCACCCACTCACCATCCTACCCATT c.120 L L D S R M S H S R L Q H P L T I L P I p.40 . . . . . . g.15127 GACCAGGTGAAGACCAGCCATGTGGAGAATGACTACATAGACAACCCTAGCCTGGCCCTG c.180 D Q V K T S H V E N D Y I D N P S L A L p.60 . . . . . . g.15187 ACCACCGGCCCAAAGCGGACCCGGGGCGGGGCCCCAGAGCTGGCCCCGACGCCCGCCCGC c.240 T T G P K R T R G G A P E L A P T P A R p.80 . . . . . . g.15247 TGTGACCAGGATGTCACCCACCATTGGATCTCCTTCAGCGGGCGCCCCAGCTCTGTGAGC c.300 C D Q D V T H H W I S F S G R P S S V S p.100 . . . . . . g.15307 AGCAGCAGCAGCACATCCTCTGACCAACGGCTCTTAGACCACATGGCACCACCACCCGTG c.360 S S S S T S S D Q R L L D H M A P P P V p.120 . . . . . . g.15367 GCTGACCAGGCCTCACCAAGGGCTGTGCGCATCCAGCCCAAGGTGGTCCACTGCCAGCCG c.420 A D Q A S P R A V R I Q P K V V H C Q P p.140 . . . . . . g.15427 CTGGACCTCAAGGGCCCGGCGGTCCCACCCGAGCTGGACAAGCACTTCTTGCTGTGCGAG c.480 L D L K G P A V P P E L D K H F L L C E p.160 . . . . . . g.15487 GCCTGTGGGAAGTGTAAATGCAAGGAGTGTGCATCCCCCCGGACGTTGCCTTCCTGCTGG c.540 A C G K C K C K E C A S P R T L P S C W p.180 . . . . . . g.15547 GTCTGCAACCAGGAGTGCCTGTGCTCAGCCCAGACTCTGGTCAACTATGGCACGTGCATG c.600 V C N Q E C L C S A Q T L V N Y G T C M p.200 . . . . . . g.15607 TGTTTGGTGCAGGGCATCTTCTACCACTGCACGAATGAGGACGATGAGGGCTCCTGCGCT c.660 C L V Q G I F Y H C T N E D D E G S C A p.220 . . . . . . g.15667 GACCACCCCTGCTCCTGCTCCCGCTCCAACTGCTGCGCCCGCTGGTCCTTCATGGGTGCT c.720 D H P C S C S R S N C C A R W S F M G A p.240 . . . . . . g.15727 CTCTCCGTGGTGCTGCCCTGCCTGCTCTGCTACCTGCCTGCCACCGGCTGCGTGAAGCTG c.780 L S V V L P C L L C Y L P A T G C V K L p.260 . . . . . . g.15787 GCCCAGCGTGGCTACGACCGTCTGCGCCGCCCTGGTTGCCGCTGCAAGCACACGAACAGC c.840 A Q R G Y D R L R R P G C R C K H T N S p.280 . . . . . . g.15847 GTCATCTGCAAAGCAGCCAGCGGGGATGCCAAGACCAGCAGGCCCGACAAGCCTTTCTGA c.900 V I C K A A S G D A K T S R P D K P F X p.299 . . . . . . g.15907 cagtttgtgtcgaagccccagtgctctgcctggaaacctggttctcttctgacatctaag c.*60 . . . . . . g.15967 aagactgcagcaaggtcagaggttttagcctcctgaggctgaccttgctagtctgcccac c.*120 . . . . . . g.16027 tccctacccccagcttcggaaaatacagagaccaccaccacgtaccctgtattccccaag c.*180 . . . . . . g.16087 gtgatgaagaagcactttggggctttttttcagggtcctgaaactttgtgtcaaacagac c.*240 . . . . . . g.16147 aatgcaggggcagggtgtggtttggggggaaatttttctttttcagaagacagaacacag c.*300 . . . . . . g.16207 atgtggacacatatccggaaactgcagctgcttgaatgccttcccagcccctccttctcc c.*360 . . . . . . g.16267 ctccctccctccgcccccccccccttcctcttttccattgtctttggctctcacaggagc c.*420 . . . . . . g.16327 tagctgcctgggaggaattgttaactgagtaccagggtacctttaaagaagacccttgga c.*480 . . . . . . g.16387 gtcttctataccttcttctccttccccatctcactccaccccactttgtccctgatgtct c.*540 . . . . . . g.16447 tggggaaggtgtagaacaccctagcagttcctattgtatatacttgggagccactgagaa c.*600 . . . . . . g.16507 cagaggacggccagtgagtccaagcctcgttcctccttctgcctccccggagccacagga c.*660 . . . . . . g.16567 tggatttaggagccactgctcagtgcacttctcccttccaactgcatcaactaactctcg c.*720 . . . . . . g.16627 ggggtgttctgctcaccacaccgtccttcggttcttactgagtcacagactcgcctgccc c.*780 . . . . . . g.16687 actacgtgtcctgggttctctctactcagatcccttccagaaactttatatgggtagagg c.*840 . . . . . . g.16747 aagccagggcggcaaatgcgagaccaaatatcattttgccaatgagtctgaggctgtggt c.*900 . . . . . . g.16807 ctctggatccagtcattatgtttttatagaataattaaaccggatgctaacggtgtttta c.*960 . . . . . . g.16867 aaaaataataataaaacaacttgtttccttttggccacccccaggaagggctgatttcaa c.*1020 . . . . . . g.16927 aatctgggggcgagcaacctcaaggaacacaatttccctccctatcaacaagaggatttt c.*1080 . . . . . . g.16987 aacagcaaagaagagaggcagcacctcccattggcagaatgaccgctgagccaggctggg c.*1140 . . . . . . g.17047 tttgggtttcttctcttctgattctgctgctcactgtcatagccttttgtgtatagtgat c.*1200 . . . . . . g.17107 gtgtctgtatctttaatgtaaatagagagatgatgaaaaaagagtctattttagtgttag c.*1260 . . . . . . g.17167 gaagccccagcaggggagtcggaagagcttggaagagctggggagagggtaggggaaagg c.*1320 . . . . . . g.17227 tttttccaggggccactgggtttgagccctgcttctgtgcacagccacaccaccctctcc c.*1380 . . . . . . g.17287 cgacagccctcaaagacgtagcaactctttctctcaaggtgctaaaggactcagaaggtg c.*1440 . . . . . . g.17347 cagcacgtccagtgggtaggtacttgttgcatgcaaaagctgtagtgtatctggtccttc c.*1500 . . . . . . g.17407 ctccccagcttttgtgtggggttcttgctttgtgtggtattttgttttcccctctaatga c.*1560 . . . . . . g.17467 gagggcatggcctgagtcagaagagctaccccaggtgaaactggaagtgcatgaggcaga c.*1620 . . . . . . g.17527 gcgtccgtagcatttccagtttgttctgtataggaacagaggtgcctccgggaaggaggc c.*1680 . . . . . . g.17587 agcgaggtaggtagctatgataggcacctaatgcttctcaaggacttattttttccttct c.*1740 . . . . . . g.17647 tgaagactagtagtaacatcttatgatttagagtaagttgattgtaaccataggtattta c.*1800 . . . . . . g.17707 ttgattggaggaagggagggtcatattattttcggctttatttatgtaacatttgctagc c.*1860 . . . . . . g.17767 ttgtaaaaggcgaatgtgaaatattgcatctgcattttccaaggctgattcgtgtagcta c.*1920 . . . . . . g.17827 cccttgccacagttgtgacggatgtatggatgttcttgaacatttcagaaggagtggtag c.*1980 . . . . . . g.17887 aaaaaaacacacattcagccaaccacttatatgaattgaatgtatcagaagtgtactgaa c.*2040 . . . . . . g.17947 gggactggagatggttttcctcagatgagggggccccaaaattgatagtgcacatctgca c.*2100 . . . . . . g.18007 cgctttctgcgaggcctcagaacttcccagggcccctccctcaaattgtctccatgggaa c.*2160 . . . . . . g.18067 acttgacccagtggcaagttgcactttggtgatcttggtggtctacacacccgttctgtg c.*2220 . . . . . . g.18127 gagagtcgatttacataagctgtgtatacacacacacacacacacacacacacccctacc c.*2280 . . . . . . g.18187 ccacactgactgtctaccgacaaagaccctatttcctggcaaacggcctcctgaaccctg c.*2340 . . . . . . g.18247 actttttgtgtacatacttgtaaacacggatttttctgggttttggtttgctttttcctt c.*2400 . . . . . . g.18307 ttttccccctgcccctgttctagcttgttcttcttggtttgctttcaacctgcttgatgg c.*2460 . . . . . . g.18367 atgtctgcagagtgctctctaagagtccacctcagtgcctcgtgtgctcagtggtcatgg c.*2520 . . . . . . g.18427 gaaaggagcgaaggaaccatccttggttctcccagcttggttgtgtagcaatccctcagc c.*2580 . . . . . . g.18487 attgtttttctcagcttcttggcaaaaattaaaacaacaacaacaacaacaacaacaaca c.*2640 . . . . . . g.18547 acaaacagaaggataaactggcttgcctgtggaccctccccggctctggggccagtcgag c.*2700 . . . . . . g.18607 agccactgagggacccagcactcagagacacaacacacatgtgtagctgcttctggctga c.*2760 . . . . . . g.18667 gtgtgtttcctgtcaccaatggcctgtttggctggacgatgcctcggcttgacctttttt c.*2820 . . . . . . g.18727 gaaaagtgctggttagttcccgcccctggtaaacctggggtaggtgggggttctgtctta c.*2880 . . . . . . g.18787 actcgaggggcacctgggatccaggacgcttctagggggctctggctgcccgtgttaatg c.*2940 . . . . . . g.18847 aaggacagcgcttccgcgagcaccctgggaactgggtcttgggtagcaaagccctcccag c.*3000 . . . . . . g.18907 agaaaagattgggcacaactaaggctttcctgagcaggaagggggtgaagaccaatccct c.*3060 . . . . . . g.18967 tcctttggtcctttggtacgcaccccctcagagctgagatggaagacatggctagttctt c.*3120 . . . . . . g.19027 ttcagccttgtggagcctgtcagtcgccatcatacctcgagtgaggcccagctagataat c.*3180 . . . . . . g.19087 gacttgtccaagatggcacacgtggaaagttgatctgcaccagaacccggatgactgtca c.*3240 . . . . . . g.19147 ccttgaagcatcctgttctccttctgtgctgtcccaggaagtgtctggcgggcgtgggca c.*3300 . . . . . . g.19207 gcacagctctacactgtacgattcactagggcatcctgcgagcctcactagccttctggt c.*3360 . . . . . . g.19267 tcatgcctttgacaagcatttttgtgccccctctgcttactgtgacagtcgatgatgaat c.*3420 . . . . . . g.19327 cttgcgttgccattttctgctgtgggtaactgcgtgcagtgtcttgccttgctttctctt c.*3480 . . . . . . g.19387 cttactgtcccacagcttggtttcatgttacaaacagaaaagctcgaggctcccaccccg c.*3540 . . . . . . g.19447 ccacatcccaacttcatttccccctcactgtagcccatttccaccccaccacaaagttgc c.*3600 . . . . . . g.19507 cacaggttttctttgtatagaatatttattttgaagctctattttaatagtatttatttt c.*3660 . . . . . . g.19567 agaaagtctactattgtaagagttcttctgtttgtgaagaaaaaaacaagttaaaaactg c.*3720 . . . . . . g.19627 aatgtactgatttagaaaatatatataaatatatattgttaaatatacacgggactgccg c.*3780 g.19629 tt c.*3782 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 22
©2004-2020 Leiden University Medical Center