(used for variant description)
(last modified July 31, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_138370.2 in the PKDCC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering PKDCC transcript NM_138370.2.
(upstream sequence)
. . . . . g.5059
aggcaagtgtcaggccgatgtgtcgcccgcgaggggccggggtcggggccgccggggcc c.-121
. . . . . . g.5119
atgcgcgcgggctgggcagggggccggcggggcgcagagcggagccgcctcggagcctga c.-61
. . . . . . g.5179
gccgcccggggccggggccggggagccgcgcggggccggccggccggggggaggggagcg c.-1
. . . . . . g.5239
ATGCGGCGCCGGCGGGCGGCAGTGGCCGCGGGTTTCTGCGCCTCCTTCCTGCTGGGCTCC c.60
M R R R R A A V A A G F C A S F L L G S p.20
. . . . . . g.5299
GTCCTCAACGTGCTCTTCGCTCCGGGCTCGGAGCCTCCGAGGCCAGGCCAGTCCCCTGAG c.120
V L N V L F A P G S E P P R P G Q S P E p.40
. . . . . . g.5359
CCTTCGCCGGCCCCGGGTCCGGGCCGTCGCGGGGGCCGCGGGGAGCTGGCCCGGCAGATC c.180
P S P A P G P G R R G G R G E L A R Q I p.60
. . . . . . g.5419
CGGGCGCGCTACGAGGAGGTGCAGCGCTATTCCCGCGGGGGCCCCGGGCCCGGGGCGGGC c.240
R A R Y E E V Q R Y S R G G P G P G A G p.80
. . . . . . g.5479
CGGCCGGAGCGGCGGCGCCTGATGGACCTGGCTCCGGGCGGGCCCGGCCTGCCGCGCCCC c.300
R P E R R R L M D L A P G G P G L P R P p.100
. . . . . . g.5539
CGGCCCCCTTGGGCCCGGCCCCTGTCCGACGGCGCCCCAGGCTGGCCCCCGGCTCCCGGC c.360
R P P W A R P L S D G A P G W P P A P G p.120
. . . . . . g.5599
CCAGGCTCCCCCGGCCCGGGCCCGCGCCTGGGCTGCGCCGCGCTTCGCAACGTGTCCGGC c.420
P G S P G P G P R L G C A A L R N V S G p.140
. . . . . . g.5659
GCGCAGTACATGGGCTCAGGCTACACCAAGGCCGTGTACCGGGTCCGCCTGCCCGGCGGT c.480
A Q Y M G S G Y T K A V Y R V R L P G G p.160
. . . . . . g.5719
GCCGCGGTGGCGCTCAAGGCGGTGGACTTTAGCGGCCACGATCTGGGCAGCTGCGTGCGC c.540
A A V A L K A V D F S G H D L G S C V R p.180
. . . . . . g.5779
GAGTTCGGGGTACGGAGGGGCTGCTATCGGCTGGCGGCCCACAAGCTGCTTAAGGAGATG c.600
E F G V R R G C Y R L A A H K L L K E M p.200
. . . | 02 . . g.10239
GTGCTGCTGGAGCGGCTGCGGCACCCCAACGTGCTGCAG | CTCTATGGCTACTGCTACCAG c.660
V L L E R L R H P N V L Q | L Y G Y C Y Q p.220
. . . . . . g.10299
GACAGCGAGGACATCCCAGACACCCTGACCACCATCACGGAGCTGGGCGCCCCTGTAGAA c.720
D S E D I P D T L T T I T E L G A P V E p.240
. . . . | 03 . . g.11033
ATGATCCAGCTGCTGCAAACTTCCTGGGAGGATCGATTCCGA | ATCTGCCTGAGCCTGGGC c.780
M I Q L L Q T S W E D R F R | I C L S L G p.260
. . . . . . g.11093
CGCCTCCTCCACCACCTGGCCCACTCCCCACTGGGCTCCGTCACTCTGCTGGACTTCCGC c.840
R L L H H L A H S P L G S V T L L D F R p.280
. . . . . . g.11153
CCTCGGCAGTTTGTGCTGGTGGATGGGGAGCTCAAAGTGACGGACCTGGATGACGCACGT c.900
P R Q F V L V D G E L K V T D L D D A R p.300
. . . . . . g.11213
GTGGAGGAGACGCCGTGTGCAGGCAGCACCGACTGCATACTCGAGTTTCCGGCCAGGAAC c.960
V E E T P C A G S T D C I L E F P A R N p.320
. . . . . . g.11273
TTCACCCTGCCCTGCTCAGCCCAGGGCTGGTGCGAGGGCATGAACGAGAAGCGGAACCTC c.1020
F T L P C S A Q G W C E G M N E K R N L p.340
. | 04 . . . . . g.11966
TATAATGCCTACAG | GTTTTTCTTCACATACCTCCTGCCTCACAGTGCCCCGCCTTCACTG c.1080
Y N A Y R | F F F T Y L L P H S A P P S L p.360
. . . | 05 . . . g.12291
CGTCCTCTGCTGGACAGCATCGTCAACGCCACAG | GAGAGCTCGCCTGGGGGGTGGACGAG c.1140
R P L L D S I V N A T G | E L A W G V D E p.380
. . . . . . g.12351
ACCCTGGCCCAGCTGGAGAAGGTGCTGCACCTGTACCGGAGCGGGCAGTATCTGCAGAAC c.1200
T L A Q L E K V L H L Y R S G Q Y L Q N p.400
. . | 06 . . . . g.14238
TCCACGGCAAGCAGCAGTACCG | AGTACCAGTGTATCCCAGACAGCACCATCCCCCAGGAA c.1260
S T A S S S T E | Y Q C I P D S T I P Q E p.420
. . . . . . g.14298
GACTACCGCTGCTGGCCATCCTACCACCACGGGAGCTGCCTCCTTTCAGTGTTCAACCTG c.1320
D Y R C W P S Y H H G S C L L S V F N L p.440
. . . . . . g.14358
GCTGAGGCTGTGGATGTCTGTGAGAGCCATGCCCAGTGTCGGGCCTTTGTGGTCACCAAC c.1380
A E A V D V C E S H A Q C R A F V V T N p.460
. | 07 . . . . . g.14626
CAGACCACCTGGACAG | GTCGGCAGCTGGTCTTTTTCAAGACTGGATGGAGCCAAGTGGTC c.1440
Q T T W T G | R Q L V F F K T G W S Q V V p.480
. . . . g.14668
CCTGATCCCAACAAGACCACATATGTGAAGGCCTCTGGCTGA c.1482
P D P N K T T Y V K A S G X p.493
. . . . . . g.14728
cctatctgagggctcggctgaccagctgactatcctcagcagctgggcttgcctgtggag c.*60
. . . . . . g.14788
ggagtgacttgcactggcagcactgcatgtcacctgggaacccctgcagacaaagctaac c.*120
. . . . . . g.14848
atcccagacagacagatgtgaccaggacaaacgtgcaataatgccaaatgttaaaatgtg c.*180
. . . . . . g.14908
agtttaccagcctagctatgggactgctggctcctagtccaggaatcatgggggtatgac c.*240
. . . . . . g.14968
tgcctctccaaccctgtgggctgtaagcaagctcaggctagtctccccactgggggctgt c.*300
. . . . . . g.15028
gcccctccctgggacggttccgtgggcagccccatcactgtgttcaatagtgtgagaatg c.*360
. . . . . . g.15088
tagctaaagcccctgctgctgctgctgcacatgccacagcaggcggtgggggctgcgtgg c.*420
. . . . . . g.15148
ggacaatccatcgtggagtgttctctcagcttaggtctggacaggagacttggcgggaga c.*480
. . . . . . g.15208
tgctccaggatgtgggtgattctgtacctggggaggctatctctgacctcccgacagggg c.*540
. . . . . . g.15268
acactcccaggccagcccaggggtcaggggcagaggtgcacacctcagcatgagccaaga c.*600
. . . . . . g.15328
ctggggtcagggagcaggtgtggtttgagccaggacctggggcgggggtggggccggggc c.*660
. . . . . . g.15388
ctttctgcctcatttgctttcaatgaaagcctcaaagcagccaaaaccaggctttccccc c.*720
. . . . . . g.15448
ttcctcgagtttgaatatccagaatcttttgtacttcttgttggttaaattgtttatttt c.*780
. . . . . . g.15508
tgtaaaaaataaaataaaattagttaataaaatgatgtttcacagcaaactcttccctaa c.*840
(downstream sequence)
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