(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)
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