Contains 2 alternatively spliced exons, exon 05b and exon 05c, replacing the normal exon 04.
(intronic numbering for coding DNA Reference Sequence)
. . . . . . g.18300 gtaggtaacggacatacagctctccacaggtggcctgggccacctgggtcctcggtgctc c.689+60 . . . . . . g.18360 ggcagagacctggtcaggtggtcagagcgaggcactggccccaatccagccagccccgag c.689+120 . . . . . . g.18420 cccatgaggtcagcagtgatcctgcggcatttgccatgagccgggcatgctagcgattta c.689+180 . . . . . . g.18480 tacaaccaaccacgctggggtgacatgtcggattttgcagaggaggaaactgaggctcag c.689+240 . . . . . . g.18540 agaaggttaagtcacagtccgtttgtccagctaccatgtggccgagccagtcctgaattc c.689+300 . . . . . . g.18600 aggagattctgacttccaacactttttcactaggccactccccagaacaggacagcacag c.689+360 . . . . . . g.18660 cctgcagccttcaagagctatgcacaggtccccacccctctgggagctcggaggcaggag c.689+420 . . . . . . g.18720 caggggagcgttcgagaggtggaaaagcgagttatctgggactaggaatagtctgggaag c.689+480 . . . . . . g.18780 ctgcctggaggagggagcccttgaattgtatatggagagactctttggcagtggcgtgca c.689+540 . . . . . . g.18840 gggagcgggtttgcaggagtgaccttggccagggtggggtggcgaggaagcaggacccca c.689+600 . . . . . . g.18900 aggagaaaggggctgtgcaggagaacagcagcctcacccctaaggtctagctggcgggac c.689+660 . . . . . . g.18960 tctgggagcacagcaggtaaaaggacatgggactggggcactgtaggggggaggcaaagg c.689+720 . . . . . . g.19020 aacggagtccccacactgggcctgtgttagctctgagcccttcacgcttgttctctcacc c.689+780 . . . . . . g.19080 ctaacttctactcccgccctgtgcaattggcatagccctctccaggcagggcaggctgag c.689+840 . . . . . . g.19140 tcaaggcagtagagcctagtggttcagggttcctcctccgaatcatggaggaatcacact c.689+900 . . . . . . g.19200 gtccatgtctcagggttattgggaggataaagggcccaacacttgtaaagctctgagctt c.689+960 . . . . . . g.19260 tgtctgtcacccactcactgcatgacacctggtatcatcactgcctggagccacccagaa c.689+1020 . . . . . . g.19320 gagtcacagtaggaatccggtcagtctggcccaagcccatgcccttgcctttgcccttgc c.689+1080 . . . . . . g.19380 agcagaaggcacctgtgccccatcaggtcactgctccctgtggccctcagcttccccacc c.689+1140 . . . . . . g.19440 cccccagctctttctagaatcctcagtgaagctgatttctggcaccacatggcttgcttc c.689+1200 . . . . . . g.19500 ccttacccaaggtgacagagccatatatgcccccagggttccccagcaaaggacttttgc c.689+1260 . . . . . . g.19560 cagaaaactcagggaatagtagaacagagatgacctccttgtcccgcatttgttgggctg c.689+1320 . . . . . . g.19620 gtaggtcttcccggtccttttcaggaactggcctcaggcagagaggtcagcctctggtgg c.689+1380 . . . . . . g.19680 cctgggactcccaggagacccacctgcaatgatgataatgtctccccatactgaccatgc c.689+1440 . . . . . . g.19740 actctggctatggaccagctaacagtccacatgccttatctctcagcaacactctctaaa c.689+1500 . . . . . . g.19800 acaactctctctgcaactccagaggtgggcatgattttccccattttatagctggaaaat c.689+1560 . . . . . . g.19860 agacgctcagagagagcaagtaatttgcccaaggtcacacagctagtaagtggcagacag c.689+1620 . . . . . . g.19920 aactggcatgcaggtctgcctgactccactttgcattgagacagggacttgctgcctgct c.689+1680 . . . . . . g.19980 cagggaagtgaggggccaggcccacctctgcttcccatagtgcctaaggtactctgctgt c.689+1740 . . . . . . g.20040 cggtgcaggggctgcccagaccctgatgaatgtgtaaattatttcttggtgctcagagca c.689+1800 . . . . . . g.20100 gcagagtctgacgtttcctccaagggatggtgggctaggggaggatgtgcagtgggtgct c.689+1860 . . . . . . g.20160 tcatccaaagtaaaagctgatgctgctgtctcaggcaatgccggcaggaagggctggagc c.689+1920 . . . . . . g.20220 ctctgacctgggctggcctagggcaacctctgctgggctgaggccaccacctatgctaag c.689+1980 . . . . . . g.20280 tgggtcagcaacagggtcagcaagggctaatccccgtgcttatccatggcacacttctcc c.689+2040 . . . . . . g.20340 catgctgagcaccttagactcatgacccgttcagtctgcacaacccacctgcggggtagg c.689+2100 . . . . . . g.20400 cactaccatctcaagaattagaattaggaaacaggctgggacgggtgggtaatttgcccg c.689+2160 . . . . . . g.20460 gagtcacagtgctaggaagaggcagggtcacaacttgaactctgtcctgtctggctccaa c.689+2220 . . . . . . g.20520 aaagaagccccttccgctactctctcctctgggcaacttgcagtgcaattctttggcacc c.689+2280 . . . . . . g.20580 tcgtatcctcttggaaggaggagagagaaacagatgtggtgcaagggcagacgggcatag c.689+2340 . . . . . . g.20640 gcatcccagcagcccccttcttctcctcccttctgaggctggcactgaagggcagtgccc c.689+2400 . . . . . . g.20700 ctcaggccactcagtgcaagggcccctgggcaggtcttacatctttggctcatcttcccc c.689+2460 . . . . . . g.20760 aagacccaggcactggctcctctcagatgtgtctgctgccaccatcccggccccaggtcc c.689+2520 . . . . . . g.20820 tgggtgggagaagctgagcaggaggcaggaataaatgtcaaagaaggagcaggctgccaa c.689+2580 . . . . . . g.20880 gggagggcagaggcagcccccaccccgccaggccaacactgccctctgcagggggccctg c.689+2640 . . . . . . g.20940 ggctggtcagggcaagagatgaccctgcagctgtcagcactggccaaaaatggagaagga c.689+2700 . . . . . . g.21000 atggagctccgtgctggccctttcctaatatagctccacttgcagctattttgagcctgg c.689+2760 . . . . . . g.21060 gaggatagagggaattttatcagttctgaggcagtggcgggcctggggcagagcagggcc c.689+2820 . . . . . . g.21120 actgtgctgctccctgggaccggggaccactgacttgagcctggcttcccagggtttggc c.689+2880 . . . . . . g.21180 tgcaaatgaccagggccaggctggccggggcccaagctcccccagctacagcccacactg c.689+2940 . . . . . . g.21240 ggcagattcaagaaggtggcagagtttggggacagagccccccaccttccacactgtctc c.689+3000 . . . . . . g.21300 cctcacaggcccccgacagggctgctggccacagggtctgccactgcagggaatttgcat c.689+3060 . . . . . . g.21360 ttaaagaaacacaggacagacactgctttccctacagagaccatgctctgggaggctcac c.689+3120 . . . . . . g.21420 tctcaggtcagagtgagaggaaggggcctctcactgtgctgcctcggctgttgagctcac c.689+3180 . . . . . . g.21480 acttctccctgcgcctgctcgctcctccatcctgcctcattgctggcccaaggggccttt c.689+3240 . . . . . . g.21540 aggagtggcccctggtgactgtgcaccccactcccctataccccaagaggagcagccaga c.689+3300 . . . . . . g.21600 gctgcctgcgtctcttctgggagggagaggaggtcaggtttgggggggcataggaaaccc c.689+3360 . . . . . . g.21660 cgcgcacaccctgcctccttaccactgcaatgcctgctcaggacagaattccagagctgc c.689+3420 . . . . . . g.21720 ccccacaaaacagactcttagtccggagctgctgacaggcagggaggcccctgggcctca c.689+3480 . . . . . . g.21780 gccttttccatagcagccacagctggtcctgtctccacccctagcttccactctggggtc c.689+3540 . . . . . . g.21840 tatagccaggtttgtatgtgggggattcatgtatgcggtacgagtgcccctgaagataga c.689+3600 . . . . . . g.21900 caagaaaacccttcttctggcaaagcagagggcactggggacccctcaagagggaaacat c.689+3660 . . . . . . g.21960 tgctgtgtcagtctctgaaccaaaccgagggtcccagtagctgtgattcccggctctgag c.689+3720 . . . . . . g.22020 ttctccctcctcactccttgctctcctcacccattgcggtttgggctggttctgcctcca c.689+3780 . . . . . . g.22080 caatgaccaggctgatgatggccccggcgctcaaactgcccctggtggagcctctctctg c.689+3840 . . . | 05b . | . g.22140 accaccctgtcttctttgcccttttcctccccag | gtggtagtcaactctccagccaa | gtt c.689+3900 | V V V N S P A N | p.230+8 ^ alternatively spliced; ^ with exon 05c replacing the normal exon 05 . . . . . . g.22200 agtatcaaaggacagcatgtgtgtgcgcttgcgtgccagccccagcatgtgtctgcgtgt c.689+3960 . . . . . . g.22260 gtctggcgtggatagagtgtgcctgctggcatgtgtacatgtatgtgcatatgtatgagt c.689+4020 . . . . . . g.22320 ggggtacacttgtacccctgggtgagcctgcatgtgtgaagctggagtagaagcatttgg c.689+4080 . . . . . . g.22380 gggtgggagtgggggctccatccgatggttctaatttcattcccaatttcctgctgcagc c.689+4140 . . . . . . g.22440 agctgcttaagatgtgcctggggttggtgacggtggcgggcgcagggggagggggacaca c.689+4200 . . . . . . g.22500 ggctgtgctgctgctgggcctgtgtgagcctgaagacctttctgtcctggcgacccctca c.689+4260 . . . . . . g.22560 gaagggctgcactggatcttgtctgcccggggagcgcacctatccattggagggaagagc c.689+4320 . . . . . . g.22620 ctcctgtgggtagaggatggccagctactcagcaaactggacttgagggggcctgggcag c.689+4380 . . . . . . g.22680 ctggagccctgctctgaggaagaagcacattccctgaagcgtctggaagatcagagccct c.689+4440 . . . . . . g.22740 gggccaccaagggggtggcctgcaggaagagccccttcacggagaaaccttgctcagaat c.689+4500 . . . . . . g.22800 ccctgcgggtgccagtggagccgcttttcacctttggggcattctggactcagcttgggc c.689+4560 . . . . . . g.22860 tgctgctcccgacccctacccccagccccatgcctgcgcttcccctgctgtgtgtagtgg c.689+4620 . . . . . . g.22920 gagatctctctgtgcctggcagcccctgcagaccctgggagggagctcaggctgagccag c.689+4680 . . . . . . g.22980 gcactgcaggggagctgggaaagccaagatgggcaaggaaacccttctatggccaggagt c.689+4740 . . . . . . g.23040 ggtggctcatgcctgtaatcccaacactgtgagatgccaaggcagaaggatcagcttgag c.689+4800 . . . . . . g.23100 gtcaggagttcaagaccaacctgggcaacatcgtgagactctgtctttacagaaaaaaaa c.689+4860 . . . . . . g.23160 aaaatagtggcatatgcctgtggtcctagctacctcaggaggctgaggtgagaggatcac c.689+4920 . . . . . . g.23220 ttgagcccaagaggttgagactggagtgagtggagatcacaccactgcactccaccatgg c.689+4980 . . . . . . g.23280 gcgacaaagcgagaccctgtatcaaaaaaaaaaaaaaagaaagaaaaaagaaaaccttct c.689+5040 g.23286 gctgca c.689+5046 --------------------- middle of intron --------------------- g.23287 g.23292 c.690-5046 ctgggc c.690-5041 . . . . . . g.23352 tttgggggagggtgccaaggattttcttgaatacacccagaccacccaccatctggagac c.690-4981 . . . . . . g.23412 ttgtgtagcctatgggggttcagggcctcggctctgggagatctctctcgacacccaccg c.690-4921 . . . . . . g.23472 cgcccagcccttgccttggccacccatgtaaccgccacctgttgcccttttctcctccct c.690-4861 . . . . | 05c . . g.23532 ctccctgcccgtactcccgcacccctcccccag | cgccgactaccaggaacgcttcaaccc c.690-4801 A D Y Q E R F N P p.230+17 ^ alternatively spliced; with exon 05b replacing the normal exon 05 . . . . . . g.23592 cagtgccctgaaggactcggccctgtccacccacaagcccatcgaggtgaaggggctggg c.690-4741 S A L K D S A L S T H K P I E V K G L G p.230+37 . . . . . . g.23652 cggcaaggccaccatcatccatgcgcagtacaacacgcccatcagcatgtattcccagga c.690-4681 G K A T I I H A Q Y N T P I S M Y S Q D p.230+57 . . . . . . | g.23712 tgccatcatggatgccatcgctgggcaggcccaagcccaaggcagtgacttcagtgg | gta c.690-4621 A I M D A I A G Q A Q A Q G S D F S G | p.230+76 alternatively spliced ^ . . . . . . g.23772 agcgcctccctcctccaccgccactcagtgcctccagagcccgaggggtatgggccattg c.690-4561 . . . . . . g.23832 ggcaccatcgggaccagctttcttccctcacgttggacctcctggaggcatggcccttgg c.690-4501 . . . . . . g.23892 aggggagccagccttcaccagggccttctggaacgtgggtatcctctcttcagaccctct c.690-4441 . . . . . . g.23952 ccatggtcagctttaggagaagggtggagaaatgcagaaaatggtggctcctcaaagtgc c.690-4381 . . . . . . g.24012 ttttcacagcctctgcattttcccaggctctatgaggaggctggaagaagagacttctac c.690-4321 . . . . . . g.24072 agtcctcttaacaaggggaccattctggaggcccccaggcctctcacagcgaagctgtcc c.690-4261 . . . . . . g.24132 tttaaggagggggaagttaccaggttcttccagcaatgagaattgattcaaatacactgg c.690-4201 . . . . . . g.24192 ctgggtttctggtttgggaaggggtctgcgaccaaccatccacactactgctggcaatca c.690-4141 . . . . . . g.24252 gtcccacagatgggagcaatccccttctttttgccctaggaagcccggcctcaaggcagt c.690-4081 . . . . . . g.24312 ggcatttaagacatccttggttcctggaattcacccattagctatggctggggaatttga c.690-4021 . . . . . . g.24372 gggttggtaaagaaagagttggctgaaaatcatttgtggatgaaaaatgctagcaatgca c.690-3961 . . . . . . g.24432 aacattcatgcagacagacctctctctgcgtgtctctgtgtctccctctctctgtatgtc c.690-3901 . . . . . . g.24492 tctttctgtcttcctccttgttgctttttctctgtctctccctcccccgaccctcgtgtg c.690-3841 . . . . . . g.24552 tgtgtgtgtgtgtgtgtgtgtgtgtgtgtatgtgtctgtctatctgttgtttctttttta c.690-3781 . . . . . . g.24612 cacacatacacataattcctcactgttttctacttgggaataccactgtgttggctgatt c.690-3721 . . . . . . g.24672 atcagtctcggcaacatcttatccctgggtcaggatcccctagcaattcaaggcaaaaag c.690-3661 . . . . . . g.24732 tcttgaaatgacagtgatgcttttttccaaagccagaaaaaccgatgtaataagagggat c.690-3601 . . . . . . g.24792 ggagggattaaaaagtcccagagaacccagttgcacttggcctttccagaccccagccct c.690-3541 . . . . . . g.24852 tgtggccatgatatgcatgcaggttataaagggcaggctccccagccccaagggtggaac c.690-3481 . . . . . . g.24912 agtgtgggctctctgggctctgctggaactgaggagcctggggcccttttggagatgcag c.690-3421 . . . . . . g.24972 tacttcctctaggccaccagggagcagaggtcgcctgtcctggagtttcaagtcaaactc c.690-3361 . . . . . . g.25032 ccaaggctcagggctgctgctcttcgcctaattctgggcaaggttgattgaattccatca c.690-3301 . . . . . . g.25092 ttcaaagcagaaaatatgaccatgcaagtttacaaacacaagcattagctcatgcgtacc c.690-3241 . . . . . . g.25152 cagaaaaacaaggctgcctaagcccaagagctaacagggatttcctgttaacatttcttt c.690-3181 . . . . . . g.25212 gtcacgtgtgtccttggtgtgctcttaaaagtagtagcaatggccaaagggaagttcaat c.690-3121 . . . . . . g.25272 ggagaataatgaaagaaatgctcttcactaactttctgttttctgcacgttgggaagact c.690-3061 . . . . . . g.25332 gctatcatttggtctcaccactagggcacccatcagttttggaattgatgcactgttgat c.690-3001 . . . . . . g.25392 taatcgagacttcacgaaggacgtttcccatctccctcctgtcccctcccatcccctccc c.690-2941 . . . . . . g.25452 tattcctcccctggtatgcctggaaagggtcctcttctcctcttccttttaacgcagcca c.690-2881 . . . . . . g.25512 cgctgagctgaccatgctgtggtgccagtgagtaaccctcttggccataacgtgctccca c.690-2821 . . . . . . g.25572 tttctgctgttaatttccgtggttccttcctcaatgaccgtgttttttctctttttcttc c.690-2761 . . . . . . g.25632 ctccttcacccaccccattcccataactcgtttctgaccctaacccggctctcttgtgtg c.690-2701 . . . . . . g.25692 cgctgcccctctgctatcccatgatggacgcgcactcacggctgggttttcctctgcttg c.690-2641 . . . . . . g.25752 gcagggcgtcaccgctggcgtaagtagaccctgcagtgtctgtccagtcatccgtctgtc c.690-2581 . . . . . . g.25812 tggttgtgggatggtgtgtgtgggtttggtgggatgtgtctgaggaccagtggtcagccc c.690-2521 . . . . . . g.25872 acgtgctctgtccacgctcctcctcacacccacctgtcagccaaacgacatcccttgcag c.690-2461 . . . . . . g.25932 cctttacaggcaagtacttgtctcttggggtttgtccaaataatgtcactgtggtcacag c.690-2401 . . . . . . g.25992 aaatcacagagtagtgacactcatgctgcaggcccaggctgggggtgcatacctgtgttc c.690-2341 . . . . . . g.26052 ttcttgccgtgctttggggtagctccccccgcctttcctatctgcactggaacagtgtag c.690-2281 . . . . . . g.26112 acccagacattagaatgcacactgggccattattcagggctagaaggtgacaaggtaacc c.690-2221 . . . . . . g.26172 tcttggaggccactccccagaatcctcatgggaagtgtatctgcaggagccagtgcctgc c.690-2161 . . . . . . g.26232 catgaccacccatgggaggggaaagatgaatcagactgggggctgcacacagtgaagcaa c.690-2101 . . . . . . g.26292 atgcagcggtgacctgatgttgcggtgactgtggagtgttttctgtggcaagaagaacaa c.690-2041 . . . . . . g.26352 gctgaaagtgggtccagagagtggactcaggccaagggccaaggactgcaggacctgttc c.690-1981 . . . . . . g.26412 catcttccctgcatatattctccctgagccttggtgtcatgaaaggcacagcagtttcct c.690-1921 . . . . . . g.26472 tatctgactcccagtcttggtcacagcagcaacaagagtccctggtctttgcacggggtt c.690-1861 . . . . . . g.26532 gtgggaaatgaagccagaaatgctttcttgaacccttggagccaagaaaggcacagggga c.690-1801 . . . . . . g.26592 gctcctcctgggcacattccagggaaacagcagcaaacaccttccacctgctctctggat c.690-1741 . . . . . . g.26652 tgcaaagctctgtagagaggctcaagggccttgcatccacaccttccctcacccactgca c.690-1681 . . . . . . g.26712 cagttcacactccctccttccctcccctcccagtgggtcaggagccaggaccagggagac c.690-1621 . . . . . . g.26772 ctggttgtgccttcctgttgcccatctcacccagaccttaggaacgcctgggactcctcc c.690-1561 . . . . . . g.26832 ctatgccagaaatggcctgtcccagcaacagcaagatcccaccctctcctttgctccctg c.690-1501 . . . . . . g.26892 ggcagctgcaggctcctccctggccggaccctagaagcctctgctggtctttcccaaccg c.690-1441 . . . . . . g.26952 atcccaaccacaggctgccagtacctatagctctctgggccagggcagggccttcagcga c.690-1381 . . . . . . g.27012 agccagggcagctccacccaacctcgatcacctttccccacctctgctcttgtagcccac c.690-1321 . . . . . . g.27072 cctgagccagacacagggaccagtcctgggacacaaggtcagttccctgtcacactcctt c.690-1261 . . . . . . g.27132 gcagggagggtataagacatggacaatggggagtttcctctcccagccagccagccctct c.690-1201 . . . . . . g.27192 ggggaaaagggagaggcaggcagaagagtactggacagggcatctttccaggcataggtc c.690-1141 . . . . . . g.27252 cagggcctcccactgggcagaagtagccttcctgagccctatgactgcagggagcctaat c.690-1081 . . . . . . g.27312 ggaaaggacacagggctagcagccaggaaacctaggttctcacccaatggggcccttatc c.690-1021 . . . . . . g.27372 tgctgtaacctggagctagttggctggcctctctggacctcagcttcagcatctgtacga c.690-961 . . . . . . g.27432 ggagagggctgggccagcagtctgttactgttgtgggcttcacctgagccctcccaggcc c.690-901 . . . . . . g.27492 tctgagaaggtgggctgggcggcttggtcctctggtcccccggccagggtgagtgggctg c.690-841 . . . . . . g.27552 taaggcttttgaccatggcctgcactgcagtctgattcaggctgggaggcactggacccg c.690-781 . . . . . . g.27612 aggggctctagggtcccttctggctctgatgtaggatttgtttgttcagccaagagtttt c.690-721 . . . . . . g.27672 gtgcacctatcatgtgccagaccctgggagcctaagggaaggtcacctggtcctccacaa c.690-661 . . . . . . g.27732 agggctgcgcttctctgggacagaggaccagtggcttccatgcagccccactcccaactt c.690-601 . . . . . . g.27792 ccccaggccagaaatcccctgtccctacaggccatgccagggctgtgccttgctgccttg c.690-541 . . . . . . g.27852 tttcttaccactttccagcagagtcagcctactcacactgagcccatggcccccagtcct c.690-481 . . . . . . g.27912 tttccagggcagtgacagcattggcagctccttgtttggatccaaaagtgtgaggagggc c.690-421 . . . . . . g.27972 aggagatggatcctgaggaatcctctgtgtcccccagttggcctctctccagccagcccc c.690-361 . . . . . . g.28032 aaactcacggcctgctcacggaggtcaaagaagacctgttctgtttcctccctctgtaaa c.690-301 . . . . . . g.28092 gggaatctaggggtggaaatgtctccggcctaggcctggagttagcactggggaagggca c.690-241 . . . . . . g.28152 gacctgagggatctgagcctcctgtctctcatgagggaggggagtcactgcttcactgcg c.690-181 . . . . . . g.28212 accaatctgagcaccgagaacccaggtcatgcccatatctcaggttctcagacagcaatg c.690-121 . . . . . . g.28272 gataaaggcaaggtggggacagaacgataggggccaccaatgggcatggagcagggaccc c.690-61 . . . . . . g.28332 agcagggtgggaactgggctccagcctagccctcgcccacggcctctctctgcattacag c.690-1
Powered by LOVDv.2.0-23 Build 23
©2004-2010 Leiden University Medical Center