(used for variant description)
(last modified September 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002734.4 in the PRKAR1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering PRKAR1A transcript NM_002734.4.(upstream sequence) . . . . . g.5466 attgacgtcagtagccgaacgctgattggctgcggccaggccgtttccggtggagc c.-121 . . . . . . g.5526 tgtcgcctagccgctatcgcagagtggagcggggctgggagcaaagcgctgagggagctc c.-61 . . . . . . | 02 g.8431 ggtacgccgccgcctcgcacccgcagcctcgcgcccgccgccgcccgtccccag | agaacc c.-1 . . . . . . g.8491 ATGGAGTCTGGCAGTACCGCCGCCAGTGAGGAGGCACGCAGCCTTCGAGAATGTGAGCTC c.60 M E S G S T A A S E E A R S L R E C E L p.20 . . . . . . g.8551 TACGTCCAGAAGCATAACATTCAAGCGCTGCTCAAAGATTCTATTGTGCAGTTGTGCACT c.120 Y V Q K H N I Q A L L K D S I V Q L C T p.40 . . . . . | 03. g.15790 GCTCGACCTGAGAGACCCATGGCATTCCTCAGGGAATACTTTGAGAGGTTGGAGAAG | GAG c.180 A R P E R P M A F L R E Y F E R L E K | E p.60 . . . . . . g.15850 GAGGCAAAACAGATTCAGAATCTGCAGAAAGCAGGCACTCGTACAGACTCAAGGGAGGAT c.240 E A K Q I Q N L Q K A G T R T D S R E D p.80 . . . . . . g.15910 GAGATTTCTCCTCCTCCACCCAACCCAGTGGTTAAAGGTAGGAGGCGACGAGGTGCTATC c.300 E I S P P P P N P V V K G R R R R G A I p.100 . . . . | 04 . g.16768 AGCGCTGAGGTCTACACGGAGGAAGATGCGGCATCCTATGTTAGAAAG | GTTATACCAAAA c.360 S A E V Y T E E D A A S Y V R K | V I P K p.120 . . . . . . g.16828 GATTACAAGACAATGGCCGCTTTAGCCAAAGCCATTGAAAAGAATGTGCTGTTTTCACAT c.420 D Y K T M A A L A K A I E K N V L F S H p.140 . . | 05 . . . . g.17087 CTTGATGATAATGAGAGAAG | TGATATTTTTGATGCCATGTTTTCGGTCTCCTTTATCGCA c.480 L D D N E R S | D I F D A M F S V S F I A p.160 . . | 06 . . . . g.17981 GGAGAGACTGTGATTCAGCAAG | GTGATGAAGGGGATAACTTCTATGTGATTGATCAAGGA c.540 G E T V I Q Q G | D E G D N F Y V I D Q G p.180 | 07 . . . . . g.18836 GAGACGGAT | GTCTATGTTAACAATGAATGGGCAACCAGTGTTGGGGAAGGAGGGAGCTTT c.600 E T D | V Y V N N E W A T S V G E G G S F p.200 . . . . . . g.18896 GGAGAACTTGCTTTGATTTATGGAACACCGAGAGCAGCCACTGTCAAAGCAAAGACAAAT c.660 G E L A L I Y G T P R A A T V K A K T N p.220 . . . . | 08 . g.20883 GTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATCCTCATG | GGAAGCACACTG c.720 V K L W G I D R D S Y R R I L M | G S T L p.240 . . . . | 09 . g.21912 AGAAAGCGGAAGATGTATGAGGAATTCCTTAGTAAAGTCTCTATTTTAG | AGTCTCTGGAC c.780 R K R K M Y E E F L S K V S I L E | S L D p.260 . . . . . . g.21972 AAGTGGGAACGTCTTACGGTAGCTGATGCATTGGAACCAGTGCAGTTTGAAGATGGGCAG c.840 K W E R L T V A D A L E P V Q F E D G Q p.280 . . . . . | 10 . g.22960 AAGATTGTGGTGCAGGGAGAACCAGGGGATGAGTTCTTCATTATTTTAGAG | GGGTCAGCT c.900 K I V V Q G E P G D E F F I I L E | G S A p.300 . . . . . . g.23020 GCTGTGCTACAACGTCGGTCAGAAAATGAAGAGTTTGTTGAAGTGGGAAGATTGGGGCCT c.960 A V L Q R R S E N E E F V E V G R L G P p.320 . | 11 . . . . . g.23355 TCTGATTATTTTG | GTGAAATTGCACTACTGATGAATCGTCCTCGTGCTGCCACAGTTGTT c.1020 S D Y F G | E I A L L M N R P R A A T V V p.340 . . . . . . g.23415 GCTCGTGGCCCCTTGAAGTGCGTTAAGCTGGACCGACCTAGATTTGAACGTGTTCTTGGC c.1080 A R G P L K C V K L D R P R F E R V L G p.360 . . . . . . g.23475 CCATGCTCAGACATCCTCAAACGAAACATCCAGCAGTACAACAGTTTTGTGTCACTGTCT c.1140 P C S D I L K R N I Q Q Y N S F V S L S p.380 g.23481 GTCTGA c.1146 V X p.381 . . . . . . g.23541 aatctgcctcctgtgcctcccttttctcctctccccaatccatgcttcactcatgcaaac c.*60 . . . . . . g.23601 tgctttattttccctacttgcagcgccaagtggccactggcatcgcagcttcctgtctgt c.*120 . . . . . . g.23661 ttatatattgaaagttgcttttattgcaccattttcaatttggagcattaactaaatgct c.*180 . . . . . . g.23721 catacacagttaaataaatagaaagagttctatggagactttgctgttactgcttctctt c.*240 . . . . . . g.23781 tgtgcagtgttagtattcaccctgggcagtgagtgccatgctttttggtgagggcagatc c.*300 . . . . . . g.23841 ccagcacctattgaattaccatagagtaatgatgtaacagtgcaagattttttttttaag c.*360 . . . . . . g.23901 tgacataattgtccagttataagcgtatttagactgtggccatatatgctgtatttcttt c.*420 . . . . . . g.23961 gtagaataaatggtttctcattaaactctaaagattagggaaaatggatatagaaaatct c.*480 . . . . . . g.24021 tagtatagtagaaagacatctgcctgtaattaaactagtttaagggtggaaaaatgccca c.*540 . . . . . . g.24081 tttttgctaattatcaatgggatatgattggttcagtttttttttttccagagttgttgt c.*600 . . . . . . g.24141 ttgccaagctaatctgcctggttttatttatatcttgttattaatgtttcttctccaatt c.*660 . . . . . . g.24201 ctgaaatacttttgagtatggctatctatacctgccttttaagtttgaaactaactcata c.*720 . . . . . . g.24261 gattgcaaatattggttagtatttaactacatctgcctcggctcacaaattccgattaga c.*780 . . . . . . g.24321 cctttatccagctagtgccaaataattgatcagatgctgaattgagaataagaatttgag c.*840 . . . . . . g.24381 gtctacattcttggttgttaatttagagcgtttggttaaagtatgtccttcagctgactc c.*900 . . . . . . g.24441 cagtataatctcctctgctcattaaactgattccaggagattggatttgctgtgactaga c.*960 . . . . . . g.24501 tacagatggagcaaatgtcctaacagagaaatagaggtgatgctgctaaagggagaaatg c.*1020 . . . . . . g.24561 ccaggcggacaaagttcagtgtcgggaattttccccgtgacattcactggggcatgagat c.*1080 . . . . . . g.24621 tttggaagaagttttttactttggtttagtctttttttccttcctttttattcagctaga c.*1140 . . . . . . g.24681 atttctggtgggttgatggtagggtataatgtgtctgtgttgcttcaaattggtctgaaa c.*1200 . . . . . . g.24741 ggctatcctgctgaaagtcctgctttcctatctagcatttatttctctggcaaacttttc c.*1260 . . . . . . g.24801 tttcttttcttttttaaagtaaacttgtgtattgagtcttaactgtatttcagtattttc c.*1320 . . . . . . g.24861 cagccttatgtgttacattattccaatgatacccaacagtttatttttattattttttta c.*1380 . . . . . . g.24921 aacaaaatttcacagttctgtaatgtaggcacttttattttcattgtgatttatatataa c.*1440 . . . . . . g.24981 ggtaatgtagggttatatttgggagtgactgcaagcatttttccatctgtgtgcaactaa c.*1500 . . . . . . g.25041 ctgactctgttattgatcccttctcctgccctttcccaggtaatttaaattggtcatggt c.*1560 . . . . . . g.25101 agatttttttcatagatttgaaaaacttttaggttgttaccaagtatgaagtataaatct c.*1620 . . . . . . g.25161 ggggaagaggttttatttacattttagggtgggtaagaaagccaccttgttacaaatttt c.*1680 . . . . . . g.25221 ttaatttccaaaataatctatattaaatgagggtttctgatctgtactttgtgtttagct c.*1740 . . . . . . g.25281 acctttttatatttaaaaaattaaaaatgaaaattacgttcttacaagcttaaagcttga c.*1800 . . . . . . g.25341 tttgatctttgtttaaatgccaaaatgtacttaaatgagttacttagaatgccataaaat c.*1860 . . . . . . g.25401 tgcagtttcatgtatgtatataatcatgctcatgtatatttagttacgtataatgctttc c.*1920 . . . . . . g.25461 tgagtgagttttactcttaaatcatttggttaaatcatttggcttgctgtttactccctt c.*1980 . . . . . . g.25521 ctgtagtttttaattaaaaactttaaagataagtctacattaaacaatgatcacatctaa c.*2040 . . . . . . g.25581 agctttatctttgtgtaatctaagtatatgtgagaaatcagaattggcataatttgtctt c.*2100 . . . . . . g.25641 agttgatattcaaggctttaaaagtcattattcctgggcttggtaagtgaatttatgaga c.*2160 . . . . . . g.25701 tttactgctctagaaagtatagatggccaaaggaccgttttgtattgcttcctgattacc c.*2220 . . . . . . g.25761 agtctgattataccatgtgtgctaatatactttttttgttatagattgtcttaatggtag c.*2280 . . . . . . g.25821 gtcaagtaataaaaagagatgaaataatttaaattcttaaatgaatcagtttttcttccc c.*2340 . . . . . . g.25881 tttctcctttccgtctttcctctctctgtccttccccgaaagtctactcgggtgggcaaa c.*2400 . . . . . . g.25941 aatgaaaagggggaaagtgaattatgggatcggtgttttgaaagagcaatgtttattttc c.*2460 . . . . . . g.26001 agtgcttttcagtttgtcaaagagtggatctcaaaatcttgcttaaagggtaattgagat c.*2520 . . . . . . g.26061 gtagcagatttatttacttagtcatggaaagaaaaaaattcagtcaaaagctaaagattt c.*2580 . . . . . . g.26121 ccttttgattgaagacagattggttctgtggccttggaactttcccagacttaatgggga c.*2640 . . . . . . g.26181 aacatcatttctagattagcatactctttggtttaaatttaatatatacatttaatgtta c.*2700 . . . . . . g.26241 cttagggatacttttatattttgcatatataaagcctcatatataaagccttatttctga c.*2760 . . . . . . g.26301 tgctcttagatttctgaggagtgagatgattaagttgtattcattagtgtattggtattt c.*2820 . . . . . . g.26361 cttcacatccagtgaaattggagatatgttgtatgttagaagagcattctttaaattgtg c.*2880 . . . . . . g.26421 ttgctttgaacatgtgtaccttttctagattcagtaatcccttccccccgtcctctggag c.*2940 . . . . g.26463 tatgaaacctttagagtcacaataaaatgtaactaaagaaaa c.*2982 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 16
©2004-2016 Leiden University Medical Center