(used for variant description)
(last modified October 21, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001126128.1 in the PROK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008275.1, covering PROK2 transcript NM_001126128.1.
(upstream sequence)
. . . g.5034
gccggcgtgagtcacggcggggctagcctttata c.-121
. . . . . . g.5094
acggcccggaggctcgcgggagccgccgcgcccgtccgcccgccgctccgcgctccaccc c.-61
. . . . . . g.5154
agcgcacccgggccccgcgcccccaactgcctccggcggccgcccagtcccgagggcgcc c.-1
. . . . . . g.5214
ATGAGGAGCCTGTGCTGCGCCCCACTCCTGCTCCTCTTGCTGCTGCCGCCGCTGCTGCTC c.60
M R S L C C A P L L L L L L L P P L L L p.20
. . . | 02 . . . g.8638
ACGCCCCGCGCTGGGGACGCCGCCGTGATCACCGGG | GCTTGTGACAAGGACTCCCAATGT c.120
T P R A G D A A V I T G | A C D K D S Q C p.40
. . . . . . g.8698
GGTGGAGGCATGTGCTGTGCTGTCAGTATCTGGGTCAAGAGCATAAGGATTTGCACACCT c.180
G G G M C C A V S I W V K S I R I C T P p.60
. . . . | 03 . . g.15717
ATGGGCAAACTGGGAGACAGCTGCCATCCACTGACTCGTAAA | AACAATTTTGGAAATGGA c.240
M G K L G D S C H P L T R K | N N F G N G p.80
. . . . | 04 . . g.17393
AGGCAGGAAAGAAGAAAGAGGAAGAGAAGCAAAAGGAAAAAGGAG | GTTCCATTTTTTGGG c.300
R Q E R R K R K R S K R K K E | V P F F G p.100
. . . . . . g.17453
CGGAGGATGCATCACACTTGCCCATGTCTGCCAGGCTTGGCCTGTTTACGGACTTCATTT c.360
R R M H H T C P C L P G L A C L R T S F p.120
. . . g.17483
AACCGATTTATTTGTTTAGCCCAAAAGTAA c.390
N R F I C L A Q K X p.129
. . . . . . g.17543
tcgctctggagtagaaaccaaatgtgaatagccacatcttacctgtaaagtcttacttgt c.*60
. . . . . . g.17603
gattgtgccaaacaaaaaatgtgccagaaagaaatgctcttgcttcctcaactttccaag c.*120
. . . . . . g.17663
taacatttttatctttgatttgtaaatgatttttttttttttttatcgaaagagaatttt c.*180
. . . . . . g.17723
acttttggatagaaatatgaagtgtaaggcattatggaactggttcttatttccctgttt c.*240
. . . . . . g.17783
gtgttttggtttgatttggcttttttcttaaatgtcaaaaacgtacccattttcacaaaa c.*300
. . . . . . g.17843
atgaggaaaataagaatttgatattttgttagaaaaacttttttttttttttctcaccac c.*360
. . . . . . g.17903
cccaagccccatttgtgccctgccacacaaatacacctacagcttttggtcccttgcctc c.*420
. . . . . . g.17963
ttccacctcaaagaatttcaaggctcttaccttactttatttttgtccatttctcttccc c.*480
. . . . . . g.18023
tcctcttgcattttaaagtggagggtttgtctctttgagtttgatggcagaatcactgat c.*540
. . . . . . g.18083
gggaatccagctttttgctggcatttaaatagtgaaaagagtgtatatgtgaacttgaca c.*600
. . . . . . g.18143
ctccaaactcctgtcatggcacggaagctaggagtgctgctggacccttcctaaacctgt c.*660
. . . . . . g.18203
cactcaagaggacttcagctctgctgttgggctggtgtgtggacagaaggaatggaaagc c.*720
. . . . . . g.18263
caaattaatttagtccagatttctaggtttgggtttttctaaaaataaaagattacattt c.*780
. . . . . . g.18323
acttcttttactttttataaagttttttttccttagtctcctacttagagatattctaga c.*840
. . . . . . g.18383
aaatgtcacttgaagaggaagtatttattttaatctggcacaacactaattaccattttt c.*900
. . . . . . g.18443
aaagcagtattaagttgtaatttaaaccttgtttgtaactgaaaggtcgattgtaatgga c.*960
. . . . . . g.18503
ttgccgtttgtacctgtatcagtattgctgtgtaaaaattctgtatcagaataataacag c.*1020
. . . . g.18552
tactgtatatcatttgatttattttaatattatatccttatttttgtca c.*1069
(downstream sequence)
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