(used for variant description)
(last modified March 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_032237.4 in the POMK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.11, covering POMK transcript NM_032237.4.
(upstream sequence)
. . g.5027
agtaggcccagtgcgtgctggcccggg c.-241
. . . . | 02 . . g.9047
gtggcaggagccgcagaggcttgggctgcag | aaaaaggatcctgtttgctgtgtaatcct c.-181
. . . . . . g.9107
gagaatggactgcaagagaggaaaaactgggcgtctgcttgggaatctattgtggaaacc c.-121
. | 03 . . . . . g.14056
cag | ggtgtttcccgaccagtccctgggcgccaactagagtatggactgaccaggtacctg c.-61
. . . . | 04 . g.15043
gatggagacctgagctggagaaggagatgcgcttgggag | gaaattgcagaggccgtcaac c.-1
. . . . . . g.15103
ATGGAAAAGCAGCCCCAGAACAGCAGGAGAGGCCTCGCCCCCCGAGAGGTGCCGCCAGCT c.60
M E K Q P Q N S R R G L A P R E V P P A p.20
. . . . . . g.15163
GTTGGGCTGCTGCTGATCATGGCCCTGATGAATACTCTGCTCTACCTCTGCCTCGACCAC c.120
V G L L L I M A L M N T L L Y L C L D H p.40
. . . . . . g.15223
TTCTTCATCGCTCCTCGACAATCCACTGTGGACCCCACACACTGTCCCTATGGTCACTTC c.180
F F I A P R Q S T V D P T H C P Y G H F p.60
. . . . . . g.15283
AGGATAGGACAGATGAAAAACTGCTCACCTTGGCTGTCCTGCGAGGAGCTGAGAACAGAA c.240
R I G Q M K N C S P W L S C E E L R T E p.80
. . . . | 05 . . g.33619
GTGAGACAGCTGAAGCGTGTTGGGGAAGGAGCTGTAAAGAGA | GTCTTTCTGTCTGAGTGG c.300
V R Q L K R V G E G A V K R | V F L S E W p.100
. . . . . . g.33679
AAGGAGCACAAAGTTGCACTCTCACAGCTCACCAGCCTGGAGATGAAAGATGATTTCCTC c.360
K E H K V A L S Q L T S L E M K D D F L p.120
. . . . . . g.33739
CATGGACTGCAGATGCTGAAATCTCTCCAAGGCACACATGTTGTCACGCTGCTTGGCTAT c.420
H G L Q M L K S L Q G T H V V T L L G Y p.140
. . . . . . g.33799
TGTGAGGATGACAACACTATGCTTACTGAATATCACCCTCTAGGTTCCTTGAGTAACCTG c.480
C E D D N T M L T E Y H P L G S L S N L p.160
. . . . . . g.33859
GAAGAAACACTAAACCTTTCAAAGTACCAAAATGTGAACACGTGGCAGCACAGGCTGGAG c.540
E E T L N L S K Y Q N V N T W Q H R L E p.180
. . . . . . g.33919
CTGGCCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGCCCTGTGGGCACACGG c.600
L A M D Y V S I I N Y L H H S P V G T R p.200
. . . . . . g.33979
GTCATGTGCGACTCCAACGACCTGCCGAAGACACTGTCCCAGTATCTGCTAACAAGCAAC c.660
V M C D S N D L P K T L S Q Y L L T S N p.220
. . . . . . g.34039
TTCAGCATTTTGGCAAATGACTTGGACGCCTTACCCCTGGTGAACCACAGCTCCGGGATG c.720
F S I L A N D L D A L P L V N H S S G M p.240
. . . . . . g.34099
CTGGTGAAGTGCGGCCACAGGGAGCTGCATGGGGATTTCGTGGCTCCAGAGCAACTGTGG c.780
L V K C G H R E L H G D F V A P E Q L W p.260
. . . . . . g.34159
CCCTATGGAGAGGACGTGCCTTTCCACGATGATCTCATGCCCTCATATGATGAGAAGATT c.840
P Y G E D V P F H D D L M P S Y D E K I p.280
. . . . . . g.34219
GACATTTGGAAGATCCCAGACATCTCCAGTTTCCTTCTGGGGCACATTGAAGGGAGTGAT c.900
D I W K I P D I S S F L L G H I E G S D p.300
. . . . . . g.34279
ATGGTCCGATTCCATTTGTTTGATATTCACAAAGCATGCAAGAGCCAGACTCCCTCAGAA c.960
M V R F H L F D I H K A C K S Q T P S E p.320
. . . . . . g.34339
AGACCCACTGCCCAGGACGTTCTGGAGACCTACCAGAAGGTCTTGGATACACTTAGAGAT c.1020
R P T A Q D V L E T Y Q K V L D T L R D p.340
. . . g.34372
GCCATGATGTCTCAGGCAAGAGAGATGCTGTGA c.1053
A M M S Q A R E M L X p.350
. . . . . . g.34432
aaaccagtccagccaatgaaggtgggattgaagggctgaatggaagttacagcattctac c.*60
. . . . . . g.34492
tctgatggtggagttttttgcctgagtttcgtgttttattgttttttttatggcttagcc c.*120
. . . . . . g.34552
atgtggttcgttgtccacatccacatgtacgtttgtatgtagtccacattggttgttaga c.*180
. . . . . . g.34612
tttttttttttttctttgagatgcggtcttgctctgttgctgaggctggagtgcagtgat c.*240
. . . . . . g.34672
gtgatcttggctcactgcagcctctgcctcccaggttcaagcaattctcccacctcagcc c.*300
g.34675
tcc c.*303
(downstream sequence)
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