(used for mutation description)
(last modified July 20, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_017946.2 in the FKBP14 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering FKBP14 transcript NM_017946.2.(upstream sequence) . . g.5024 taaatgtgccacgtcttctaagaa c.-121 . . . . . . g.5084 gggggagtcctgaacttgtctgaagcccttgtccgtaagccttgaactacgttcttaaat c.-61 . . . . . . g.5144 ctatgaagtcgagggacctttcgctgcttttgtagggacttctttccttgcttcagcaac c.-1 . . . . . . g.5204 ATGAGGCTTTTCTTGTGGAACGCGGTCTTGACTCTGTTCGTCACTTCTTTGATTGGGGCT c.60 M R L F L W N A V L T L F V T S L I G A p.20 . . . . . . g.5264 TTGATCCCTGAACCAGAAGTGAAAATTGAAGTTCTCCAGAAGCCATTCATCTGCCATCGC c.120 L I P E P E V K I E V L Q K P F I C H R p.40 . . . . . . g.5324 AAGACCAAAGGAGGGGATTTGATGTTGGTCCACTATGAAGGCTACTTAGAAAAGGACGGC c.180 K T K G G D L M L V H Y E G Y L E K D G p.60 . | 02. . . . . g.8879 TCCTTATTTCACTCCAC | TCACAAACATAACAATGGTCAGCCCATTTGGTTTACCCTGGGC c.240 S L F H S T | H K H N N G Q P I W F T L G p.80 . . . . . . g.8939 ATCCTGGAGGCTCTCAAAGGTTGGGACCAGGGCTTGAAAGGAATGTGTGTAGGAGAGAAG c.300 I L E A L K G W D Q G L K G M C V G E K p.100 . . . . | 03 . g.12540 AGAAAGCTCATCATTCCTCCTGCTCTGGGCTATGGAAAAGAAGGAAAAG | GTAAAATTCCC c.360 R K L I I P P A L G Y G K E G K G | K I P p.120 . . . . . . g.12600 CCAGAAAGTACACTGATATTTAATATTGATCTCCTGGAGATTCGAAATGGACCAAGATCC c.420 P E S T L I F N I D L L E I R N G P R S p.140 . . . . . | 04. g.16762 CATGAATCATTCCAAGAAATGGATCTTAATGATGACTGGAAACTCTCTAAAGATGAG | GTT c.480 H E S F Q E M D L N D D W K L S K D E | V p.160 . . . . . . g.16822 AAAGCATATTTAAAGAAGGAGTTTGAAAAACATGGTGCGGTGGTGAATGAAAGTCATCAT c.540 K A Y L K K E F E K H G A V V N E S H H p.180 . . . . . . g.16882 GATGCTTTGGTGGAGGATATTTTTGATAAAGAAGATGAAGACAAAGATGGGTTTATATCT c.600 D A L V E D I F D K E D E D K D G F I S p.200 . . . g.16918 GCCAGAGAATTTACATATAAACACGATGAGTTATAG c.636 A R E F T Y K H D E L X p.211 . . . . . . g.16978 agatacatctacccttttaatatagcactcatctttcaagagagggcagtcatctttaaa c.*60 . . . . . . g.17038 gaacattttatttttatacaatgttctttcttgctttgttttttatttttatatattttt c.*120 . . . . . . g.17098 tctgactcctatttaaagaaccccttaggtttctaagtacccatttctttctgataagtt c.*180 . . . . . . g.17158 attgggaagaaaaagctaattggtctttgaatagaagacttctggacaatttttcacttt c.*240 . . . . . . g.17218 cacagatatgaagctttgttttactttctcacttataaatttaaaatgttgcaactggga c.*300 . . . . . . g.17278 atataccacgacatgagaccaggttatagcacaaattagcaccctatatttctgcttccc c.*360 . . . . . . g.17338 tctattttctccaagttagaggtcaacatttgaaaagccttttgcaatagcccaaggctt c.*420 . . . . . . g.17398 gctattttcatgttataatgaaatagtttatgtgtaactggctctgagtctctgcttgag c.*480 . . . . . . g.17458 gaccagaggaaaatggttgttggacctgacttgttaatggctactgctttactaaggaga c.*540 . . . . . . g.17518 tgtgcaatgctgaagttagaaacaaggttaatagccaggcatggtggctcatgcctgtaa c.*600 . . . . . . g.17578 tcccagcactttgggaggctgaggcgggcggatcacctgaggttgggagttcgagaccag c.*660 . . . . . . g.17638 cctgaccaacacggagaaaccctatctctactaaaaatacaaaagtagccgggcgtggtg c.*720 . . . . . . g.17698 atgcgtgcctgtaatcccagctacccaggaaggctgaggcggcagaatcacttgaacccg c.*780 . . . . . . g.17758 gaggcggaggttgcggtaagccgagatcacctccagcctggacactctgtctcgaaaaaa c.*840 . . . . . . g.17818 agaaaagaaacacggttaataacatataaatatgtatgcattgagacatgctacctagga c.*900 . . . . . . g.17878 cttaagctgatgaagcttggctcctagtgattggtggcctattatgataaataggacaaa c.*960 . . . . . . g.17938 tcatttatgtgtgagtttctttgtaataaaatgtatcaatatgttatagatgaggtagaa c.*1020 . . . . . . g.17998 agttatatttatattcaatatttacttcttaaggctagcggaatatccttcctggttctt c.*1080 . . . . . . g.18058 taatgggtagtctatagtatattatactacaataacattgtatcataagataaagtagta c.*1140 . . . . . . g.18118 aaccagtctacattttcccatttctgtctcatcaaaaactgaagttagctgggtgtggtg c.*1200 . . . . . . g.18178 gctcatgcctgtaatcccagcactttgggggccaaggagggtggatcacttgagatcagg c.*1260 . . . . . . g.18238 agttcaagaccagcctggccaacatggtgaaaccttgtctctactaaaaatacaaaaatt c.*1320 . . . . . . g.18298 agccaggcgtggtggtgcacacctgtagtcccagctactcgggaggctgagacaggagat c.*1380 . . . . . . g.18358 ttgcttgaacccgggaggcggaggttgcagtgagccaagattgtgccactgcactccagc c.*1440 . . g.18385 ctgggtgacagagcaagactccatctc c.*1467 (downstream sequence)Legend:
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