(used for variant description)
(last modified September 15, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006268.4 in the DPF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering DPF2 transcript NM_006268.4.
(upstream sequence)
. g.5013
agtgctcgctcta c.-121
. . . . . . g.5073
gtgcgcgcgcccggacggcgcctgcgcagagggcaaggaacctggtaccccggtgcggtc c.-61
. . . . . . g.5133
ccggcgcctgcgcgctgcggactgtggggcttctcggcccgaggcagaggaacagggaag c.-1
. . . | 02 . . . g.11659
ATGGCGGCTGTGGTGGAGAATGTAGTGAAGCT | CCTTGGGGAGCAGTACTACAAAGATGCC c.60
M A A V V E N V V K L | L G E Q Y Y K D A p.20
. . . . . . g.11719
ATGGAGCAGTGCCACAATTACAATGCTCGCCTCTGTGCTGAGCGCAGCGTGCGCCTGCCT c.120
M E Q C H N Y N A R L C A E R S V R L P p.40
. . . . . . g.11779
TTCTTGGACTCACAGACCGGAGTAGCCCAGAGCAATTGTTACATCTGGATGGAAAAGCGA c.180
F L D S Q T G V A Q S N C Y I W M E K R p.60
. | 03 . . . . . g.12259
CACCGGGGTCCAG | GATTGGCCTCCGGACAGCTGTACTCCTACCCTGCCCGGCGCTGGCGG c.240
H R G P G | L A S G Q L Y S Y P A R R W R p.80
. . . . . . g.12319
AAAAAGCGGCGAGCCCATCCCCCTGAGGATCCACGACTTTCCTTCCCATCTATTAAGCCA c.300
K K R R A H P P E D P R L S F P S I K P p.100
| 04 . . . . . . g.12704
G | ACACAGACCAGACCCTGAAGAAGGAGGGGCTGATCTCTCAGGATGGCAGTAGTTTAGAG c.360
D | T D Q T L K K E G L I S Q D G S S L E p.120
. . . . . . g.12764
GCTCTGTTGCGCACTGACCCCCTGGAGAAGCGAGGTGCCCCGGATCCCCGAGTTGATGAT c.420
A L L R T D P L E K R G A P D P R V D D p.140
. . . . | 05 . . g.15006
GACAGCCTGGGCGAGTTTCCTGTGACCAACAGTCGAGCGCGAAAG | CGGATCCTAGAACCA c.480
D S L G E F P V T N S R A R K | R I L E P p.160
. . . . . . g.15066
GATGACTTCCTGGATGACCTCGATGATGAAGACTATGAAGAAGATACTCCCAAGCGTCGG c.540
D D F L D D L D D E D Y E E D T P K R R p.180
. | 06 . . . . g.15279
GGAAAGGGGAAATCCAAG | GGTAAGGGTGTGGGCAGTGCCCGTAAGAAGCTGGATGCTTCC c.600
G K G K S K | G K G V G S A R K K L D A S p.200
. . . | 07. . . g.16935
ATCCTGGAGGACCGGGATAAGCCCTATGCCTGTGACA | TTTGTGGAAAACGTTACAAGAAC c.660
I L E D R D K P Y A C D I | C G K R Y K N p.220
. . . . . . g.16995
CGACCAGGCCTCAGTTACCACTATGCCCACTCCCACTTGGCTGAGGAGGAGGGCGAGGAC c.720
R P G L S Y H Y A H S H L A E E E G E D p.240
. . . . . | 08 . g.17181
AAGGAAGACTCTCAACCACCCACTCCTGTTTCCCAGAGGTCTGAGGAGCAGAAAT | CCAAA c.780
K E D S Q P P T P V S Q R S E E Q K S | K p.260
. . . . . . g.17241
AAGGGTCCTGATGGATTGGCCTTGCCCAACAACTACTGTGACTTCTGCCTGGGGGACTCA c.840
K G P D G L A L P N N Y C D F C L G D S p.280
. . . . . . g.17301
AAGATTAACAAGAAGACGGGACAACCCGAGGAGCTGGTGTCCTGTTCTGACTGTGGCCGC c.900
K I N K K T G Q P E E L V S C S D C G R p.300
| 09 . . . . . . g.17549
TCAG | GGCATCCATCTTGCCTCCAATTTACCCCCGTGATGATGGCGGCAGTGAAGACATAC c.960
S G | H P S C L Q F T P V M M A A V K T Y p.320
. . . . . | 10. g.20099
CGCTGGCAGTGCATCGAGTGCAAATGTTGCAATATCTGCGGCACCTCCGAGAATGAC | GAC c.1020
R W Q C I E C K C C N I C G T S E N D | D p.340
. . . . . . g.20159
CAGTTGCTCTTCTGTGATGACTGCGATCGTGGCTACCACATGTACTGTCTCACCCCGTCC c.1080
Q L L F C D D C D R G Y H M Y C L T P S p.360
. | 11 . . . . g.22970
ATGTCTGAGCCCCCTGAAG | GAAGTTGGAGCTGCCACCTGTGTCTGGACCTGTTGAAAGAG c.1140
M S E P P E G | S W S C H L C L D L L K E p.380
. . . g.23006
AAAGCTTCCATCTACCAGAACCAGAACTCCTCTTGA c.1176
K A S I Y Q N Q N S S X p.391
. . . . . . g.23066
tgtggccacccacctgctccccgacatatctaaggctgtttctctcctccacttcatatt c.*60
. . . . . . g.23126
tcatacccatctttcccttcttcctcctctccttcacaaatccagagaaccttggggtgg c.*120
. . . . . . g.23186
ttgtgccagcctgcctttggcagctgcaagctgaggtggcagctctgaccacctctggcc c.*180
. . . . . . g.23246
ccaggccctcagggagaaaggagcaacacactgcccctaggcgtgcgtgtggcccagttt c.*240
. . . . . . g.23306
ctctctgctctccattaagtgcattcactctgcttgccttgggcccagcccctggtgatc c.*300
. . . . . . g.23366
acagggttcaaacagtgtcctcctagaaagagtgggagagcagctcacttctctgtgttc c.*360
. . . . . . g.23426
tgcctcccctctggtctccagagttttcctgtcctctagaggcaagccaggccagggagc c.*420
. . . . . . g.23486
tgggagcgagcaagctgaggccacgtccacaaggagcttttcatgcccctgtgccgcata c.*480
. . . . . . g.23546
gcctcacctctttcctccagagtggctctctgcggccctgtgttcctgctacagagtgtt c.*540
. . . . . . g.23606
cttttctggagtcaggatgttctcggtcaccctcctggttctgccctgtcccattccacc c.*600
. . . . . . g.23666
ccaccccagggggaacagtagcttcaccttgttattcccattgctctcctggctcactct c.*660
. . . . . . g.23726
tacggtcggtctccagtgactgaagcattccccacccttggaatttctcatcttctgcct c.*720
. . . . . . g.23786
cccttcctactccttttggttttgtggggagaggggaaggatcagggggccaggccagca c.*780
. . . . . . g.23846
gctcgggggccacaaggagatggataatgtgcctgttttttaacacaacaaaaaagccta c.*840
. . . . . . g.23906
cctccaaaatcccctttttgttcttcctggacctgggcattcagcctcctgctcttaact c.*900
. . . . . . g.23966
gaattgggagcctctgccacctgccccgtgtatcctggctctcagctcatggggaagcca c.*960
. . . . . . g.24026
catagacatccctttcttcccttgcacgctcgctagcagctggtaaggtcttcacaccct c.*1020
. . . . . . g.24086
gattcctcaagttttctgcttagtggcactgacattaagtagtggggggacagtccatgc c.*1080
. . . . . . g.24146
caggacaccctggagtagccttcccccttggccgtgggcaggccctaactcactgtcgct c.*1140
. . . . . . g.24206
ttggagttgaggtgtcttttttttttctttctttagttcctgtattctaaacattagtaa c.*1200
. . g.24227
aaataaatgtttttacacaga c.*1221
(downstream sequence)
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