(used for variant description)
(last modified August 10, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000325.5 in the PITX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007120.1, covering PITX2 transcript NM_000325.5.(upstream sequence) . . . g.24063 gttaggccaacagggaagcgcggagccgcagatctggt c.-601 . . . . . . g.24123 ccgtcgctcgcctgggtgcctggagctgagctgcggcaaggcccggctcctgttcgaccg c.-541 . . . . . . g.24183 cccgaggggtgtgcgtgtgcgcgttgcggagggtgcgctcagagggccgcgtcgtggctg c.-481 . . . . . . g.24243 cagcggctgctgccgccgcaggggatctaatatcacctacctgtccctgtcactcttgac c.-421 . . . . . . g.24303 acttctctgtcagggctgccgcgtggggggggggcgggcagagcgcggtcggcgttagct c.-361 . . . . . . g.24363 ttccttattggaggggttcttgggggagggagggagagaagaagggggtctttgcccact c.-301 . . . . . . g.24423 cttgtttcgctttggagcttggaagcctgctccctaaagacgctctgagtggtgcccttc c.-241 . . . . . . g.24483 tgcccacatcccatgtcttcgtttgcccgctgactttccgtctccggactttttcgcttg c.-181 . . . . . . g.24543 agccttccggaggagacgggggcagcttggcttgagaactcggcgggggttgcgtcccct c.-121 . . . . . . g.24603 ggctctccccgcagcggggaaactccgcgcctagagcgcgacccggagcgggcagcggcg c.-61 . . . . . . g.24663 gctacgggggctcggcggggcagtagccaaggactagtagagcgtcgcgctccctcgtcc c.-1 . . . . . . g.24723 ATGAACTGCATGAAAGGCCCGCTTCACTTGGAGCACCGAGCAGCGGGGACCAAGCTGTCG c.60 M N C M K G P L H L E H R A A G T K L S p.20 . . . . . . g.24783 GCCGTCTCCTCATCTTCCTGTCACCATCCCCAGCCGTTAGCCATGGCTTCGGTTCTGGCT c.120 A V S S S S C H H P Q P L A M A S V L A p.40 . . . . . . g.24843 CCCGGTCAGCCCCGGTCGCTGGACTCCTCCAAGCACAGGCTGGAGGTGCACACCATCTCC c.180 P G Q P R S L D S S K H R L E V H T I S p.60 . . | 02 . . . . g.25789 GACACCTCCAGCCCGGAGGCCGCAG | AGAAAGATAAAAGCCAGCAGGGGAAGAATGAGGAC c.240 D T S S P E A A E | K D K S Q Q G K N E D p.80 . . . . . . g.25849 GTGGGCGCCGAGGACCCGTCTAAGAAGAAGCGGCAAAGGCGGCAGCGGACTCACTTTACC c.300 V G A E D P S K K K R Q R R Q R T H F T p.100 . . . . . . g.25909 AGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGTCC c.360 S Q Q L Q E L E A T F Q R N R Y P D M S p.120 . . . . . | 03 . g.28444 ACACGCGAAGAAATCGCTGTGTGGACCAACCTTACGGAAGCCCGAGTCCGG | GTTTGGTTC c.420 T R E E I A V W T N L T E A R V R | V W F p.140 . . . . . . g.28504 AAGAATCGTCGGGCCAAATGGAGAAAGAGGGAGCGCAACCAGCAGGCCGAGCTATGCAAG c.480 K N R R A K W R K R E R N Q Q A E L C K p.160 . . . . . . g.28564 AATGGCTTCGGGCCGCAGTTCAATGGGCTCATGCAGCCCTACGACGACATGTACCCAGGC c.540 N G F G P Q F N G L M Q P Y D D M Y P G p.180 . . . . . . g.28624 TATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTATCCACCAAGAGC c.600 Y S Y N N W A A K G L T S A S L S T K S p.200 . . . . . . g.28684 TTCCCCTTCTTCAACTCTATGAACGTCAACCCCCTGTCATCACAGAGCATGTTTTCCCCA c.660 F P F F N S M N V N P L S S Q S M F S P p.220 . . . . . . g.28744 CCCAACTCTATCTCGTCCATGAGCATGTCGTCCAGCATGGTGCCCTCAGCAGTGACAGGC c.720 P N S I S S M S M S S S M V P S A V T G p.240 . . . . . . g.28804 GTCCCGGGCTCCAGTCTCAACAGCCTGAATAACTTGAACAACCTGAGTAGCCCGTCGCTG c.780 V P G S S L N S L N N L N N L S S P S L p.260 . . . . . . g.28864 AATTCCGCGGTGCCGACGCCTGCCTGTCCTTACGCGCCGCCGACTCCTCCGTATGTTTAT c.840 N S A V P T P A C P Y A P P T P P Y V Y p.280 . . . . . . g.28924 AGGGACACGTGTAACTCGAGCCTGGCCAGCCTGAGACTGAAAGCAAAGCAGCACTCCAGC c.900 R D T C N S S L A S L R L K A K Q H S S p.300 . . . . . . g.28984 TTCGGCTACGCCAGCGTGCAGAACCCGGCCTCCAACCTGAGTGCTTGCCAGTATGCAGTG c.960 F G Y A S V Q N P A S N L S A C Q Y A V p.320 . g.28999 GACCGGCCCGTGTGA c.975 D R P V X p.324 . . . . . . g.29059 gccgcacccacagcgccgggatcctaggaccttgccggatggggcaactccgcccttgaa c.*60 . . . . . . g.29119 agactgggaattatgctagaaggtcgtgggcactaaagaaagggagagaaagagaagcta c.*120 . . . . . . g.29179 tatagagaaaaggaaaccactgaatcaaagagagagctcctttgatttcaaagggatgtc c.*180 . . . . . . g.29239 ctcagtgtctgacatctttcactacaagtatttctaacagttgcaaggacacatacacaa c.*240 . . . . . . g.29299 acaaatgtttgactggatatgacattttaacattactataagcttgttattttttaagtt c.*300 . . . . . . g.29359 tagcattgttaacatttaaatgactgaaaggatgtatatatatcgaaatgtcaaattaat c.*360 . . . . . . g.29419 tttataaaagcagttgttagtaatatcacaacagtgtttttaaaggttaggctttaaaat c.*420 . . . . . . g.29479 aaagcatgttatacagaagcgattaggatttttcgcttgcgagcaagggagtgtatatac c.*480 . . . . . . g.29539 taaatgccacactgtatgtttctaacatattattattattataaaaaatgtgtgaatatc c.*540 . . . . . . g.29599 agttttagaatagtttctctggtggatgcaatgatgtttctgaaactgctatgtacaacc c.*600 . . . . . . g.29659 taccctgtgtataacatttcgtacaatattattgttttacttttcagcaaatatgaaaca c.*660 . . . . g.29701 aatgtgttttatttcatgggagtaaaatatactgcatacaaa c.*702 (downstream sequence)Legend:
Powered by LOVD v.3.0 Build 24
©2004-2020 Leiden University Medical Center