(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)Legend:
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