(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_007035.3 in the KERA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KERA transcript NM_007035.3.
(upstream sequence)
. g.5019
caatttttaagaaatgatc c.-601
. . . . . . g.5079
atctagggaaaatgttttaaaatcttttaaaatatctttttgttatactttaaaactgcc c.-541
. . . . . . g.5139
ttcagctgcctattggtaaataaggtctggatatcagtacatgacaacatatactaatga c.-481
. . . . . . g.5199
attgaactgtgaattaggaatgaaaattgcctagaaatttttttatgagttattaggatt c.-421
. . . . . . g.5259
aaagtaagaatttcctttgctgggctgtgtaggcactaagattccgtggttgttggaggg c.-361
. . . . . . g.5319
gttaaatttggatctactagtgcatatattttaccgaggattcataaaaacacgacagtg c.-301
. . . . . . g.5379
gagcctgggtcaatccattaccatgtacaagcagtgaccaatagaaaaggaagaagaaga c.-241
. . . . . . g.5439
tccaagaaggctgaggtaagcagtcttctgaagccctgtcaaagtggaaacaatagatca c.-181
. . . . . . g.5499
aaggtgttcatggtgactgggacgagtaggtttcactgtttctcatagacgacttgacag c.-121
. . . . . . g.5559
cttaaagtaaaaacaaattattttcgtcaaagtttttttttttctcttaactgattttta c.-61
. . . . . . | 02 g.7073
gcaaacctcagactgagacacaggactcaacggtgtattcctggaaggcaag | gtgctata c.-1
. . . . . . g.7133
ATGGCAGGCACAATCTGTTTCATCATGTGGGTGTTATTCATAACAGACACTGTGTGGTCT c.60
M A G T I C F I M W V L F I T D T V W S p.20
. . . . . . g.7193
AGAAGTGTGAGGCAGGTCTATGAAGTACATGATTCAGATGATTGGACTATTCATGACTTC c.120
R S V R Q V Y E V H D S D D W T I H D F p.40
. . . . . . g.7253
GAGTGTCCCATGGAATGTTTCTGCCCACCCAGTTTTCCTACTGCTTTATATTGTGAAAAT c.180
E C P M E C F C P P S F P T A L Y C E N p.60
. . . . . . g.7313
AGAGGTCTCAAAGAAATTCCTGCTATTCCTTCAAGAATTTGGTATCTTTATCTTCAAAAC c.240
R G L K E I P A I P S R I W Y L Y L Q N p.80
. . . . . . g.7373
AACCTGATAGAAACCATTCCTGAAAAGCCATTTGAGAATGCCACCCAGCTAAGATGGATA c.300
N L I E T I P E K P F E N A T Q L R W I p.100
. . . . . . g.7433
AATCTAAACAAGAACAAAATAACCAACTACGGAATTGAAAAAGGAGCCCTAAGCCAGCTG c.360
N L N K N K I T N Y G I E K G A L S Q L p.120
. . . . . . g.7493
AAGAAGTTGCTCTTCTTATTTCTGGAAGATAATGAGCTAGAGGAGGTACCTTCTCCATTG c.420
K K L L F L F L E D N E L E E V P S P L p.140
. . . . . . g.7553
CCAAGAAGTTTAGAACAATTACAATTAGCTAGAAATAAGGTGTCCAGAATTCCTCAAGGG c.480
P R S L E Q L Q L A R N K V S R I P Q G p.160
. . . . . . g.7613
ACCTTTAGCAATCTGGAGAACCTGACCCTTCTTGACCTACAGAACAACAAATTAGTGGAC c.540
T F S N L E N L T L L D L Q N N K L V D p.180
. . . . . . g.7673
AATGCCTTTCAAAGAGACACTTTTAAAGGACTCAAGAATCTCATGCAGCTAAACATGGCC c.600
N A F Q R D T F K G L K N L M Q L N M A p.200
. . . . . . g.7733
AAGAATGCCCTGAGGAATATGCCTCCAAGATTACCAGCCAATACAATGCAGTTGTTTTTA c.660
K N A L R N M P P R L P A N T M Q L F L p.220
. . . . . . g.7793
GACAACAATTCCATTGAAGGAATACCAGAAAATTATTTTAATGTGATTCCTAAAGTGGCC c.720
D N N S I E G I P E N Y F N V I P K V A p.240
. . . . . . g.7853
TTTTTGAGACTAAATCACAACAAACTGTCAGATGAGGGTCTCCCATCAAGAGGATTTGAT c.780
F L R L N H N K L S D E G L P S R G F D p.260
. . . . . . g.7913
GTATCATCAATTCTAGATCTTCAACTGTCGCACAATCAACTCACAAAGGTTCCCCGAATC c.840
V S S I L D L Q L S H N Q L T K V P R I p.280
. . . . | 03 . . g.11850
AGTGCTCATCTGCAGCACCTTCACCTTGATCATAACAAAATTAAAA | GTGTGAATGTCTCT c.900
S A H L Q H L H L D H N K I K S | V N V S p.300
. . . . . . g.11910
GTAATATGTCCCAGCCCATCCATGCTGCCTGCAGAACGAGATTCCTTCAGTTATGGACCT c.960
V I C P S P S M L P A E R D S F S Y G P p.320
. . . . . . g.11970
CATCTTCGCTACCTCCGTCTGGATGGAAATGAAATCAAACCACCAATTCCAATGGCTTTA c.1020
H L R Y L R L D G N E I K P P I P M A L p.340
. . . g.12009
ATGACCTGCTTCAGACTTCTGCAGGCTGTCATTATTTAA c.1059
M T C F R L L Q A V I I X p.352
. . . . . . g.12069
acacattctcaccaaatctaaaattagtttaatgagctgtttctgacatgaaatgtggtt c.*60
. . . . . . g.12129
accattaataggtttaggacacaagtcatattccccattgctctcggccaccattttcat c.*120
. . . . . . g.12189
ttgtgcagtgtattttttctattcaaagatgcttttgccagttacatgcatcacagcctg c.*180
. . . . . . g.12249
cattaatttgcttttcttttaattaataaaacagacacagagttaagatagtttatcaac c.*240
. . . . . . g.12309
tcaaagatagttttattttggtctcttccatagcttattaacactaaagaaaacaattac c.*300
. . . . . . g.12369
attcttatacaataaaaaggacacatttgtgtatgtttaaaattacttatgcagataccg c.*360
. . . . . . g.12429
taatttacagtataaatgtaataatcaaacaggaggataacgacctgaagaaaatgagaa c.*420
. . . . . . g.12489
aataaaatatttcttaattgtaatcataataaaacaattgcagattgctaagtagctgtt c.*480
. . . . . . g.12549
ggtggtacaagtttgatatttagcttgagaatgggtatggaatgaatcaaatacttcatc c.*540
. . . . . . g.12609
actaaagaattcttgttatttaatatcaaataatgaaacagcagtcacttctagttcatt c.*600
. . . . . . g.12669
accatttcttgtagctgttgtttttagatatagtccactgcattcttataagttctaaat c.*660
. . . . . . g.12729
tttatgtttattataatgcatttcttgtggaatcttagtgttttaacatttgaaatccac c.*720
. . . . . . g.12789
ttaaactgcaaattgttctttatatttgattgtgttttttggattttctaaataaaaata c.*780
. . . . . . g.12849
ttgaatgctttctaacaaaacagaatatttcaaagaaattagcaagcttcattaaagaac c.*840
. g.12864
atgttttaataaaaa c.*855
(downstream sequence)
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