(used for variant description)
(last modified May 22, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_002742.2 in the PRKD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering PRKD1 transcript NM_002742.2.
(upstream sequence)
g.5001
c c.-181
. . . . . . g.5061
cctcccctcccgatcctcatccccttgccctcccccagcccagggacttttccggaaagt c.-121
. . . . . . g.5121
ttttattttccgtctgggctctcggagaaagaagctcctggctcagcggctgcaaaactt c.-61
. . . . . . g.5181
tcctgctgccgcgccgccagcccccgccctccgctgcccggccctgcgccccgccgagcg c.-1
. . . . . . g.5241
ATGAGCGCCCCTCCGGTCCTGCGGCCGCCCAGTCCGCTGCTGCCCGTGGCGGCGGCAGCT c.60
M S A P P V L R P P S P L L P V A A A A p.20
. . . . . . g.5301
GCCGCAGCGGCCGCCGCACTGGTCCCAGGGTCCGGGCCCGGGCCCGCGCCGTTCTTGGCT c.120
A A A A A A L V P G S G P G P A P F L A p.40
. . . . . . g.5361
CCTGTCGCGGCCCCGGTCGGGGGCATCTCGTTCCATCTGCAGATCGGCCTGAGCCGTGAG c.180
P V A A P V G G I S F H L Q I G L S R E p.60
. . . . . . g.5421
CCGGTGCTGCTGCTGCAGGACTCGTCCGGGGACTACAGCCTGGCGCACGTCCGCGAGATG c.240
P V L L L Q D S S G D Y S L A H V R E M p.80
. . | 02 . . . . g.207055
GCTTGCTCCATTGTCGACCAGAAG | TTCCCTGAATGTGGTTTCTACGGAATGTATGATAAG c.300
A C S I V D Q K | F P E C G F Y G M Y D K p.100
. . . . . . g.207115
ATCCTGCTTTTTCGCCATGACCCTACCTCTGAAAACATCCTTCAGCTGGTGAAAGCGGCC c.360
I L L F R H D P T S E N I L Q L V K A A p.120
. . . . | 03 . . g.266502
AGTGATATCCAGGAAGGCGATCTTATTGAAGTGGTCTTGTCAG | CTTCCGCCACCTTTGAA c.420
S D I Q E G D L I E V V L S A | S A T F E p.140
. . . . . . g.266562
GACTTTCAGATTCGTCCCCACGCTCTCTTTGTTCATTCATACAGAGCTCCAGCTTTCTGT c.480
D F Q I R P H A L F V H S Y R A P A F C p.160
. . . . . | 04 . g.268839
GATCACTGTGGAGAAATGCTGTGGGGGCTGGTACGTCAAGGTCTTAAATGTGAAG | GGTGT c.540
D H C G E M L W G L V R Q G L K C E G | C p.180
. . . . . . g.268899
GGTCTGAATTACCATAAGAGATGTGCATTTAAAATACCCAACAATTGCAGCGGTGTGAGG c.600
G L N Y H K R C A F K I P N N C S G V R p.200
. . . . . . g.268959
CGGAGAAGGCTCTCAAACGTTTCCCTCACTGGGGTCAGCACCATCCGCACATCATCTGCT c.660
R R R L S N V S L T G V S T I R T S S A p.220
. . . | 05 . . . g.293813
GAACTCTCTACAAGTGCCCCTGATGAGCCCCTTCTG | CAAAAATCACCATCAGAGTCGTTT c.720
E L S T S A P D E P L L | Q K S P S E S F p.240
. . . . . . g.293873
ATTGGTCGAGAGAAGAGGTCAAATTCTCAATCATACATTGGACGACCAATTCACCTTGAC c.780
I G R E K R S N S Q S Y I G R P I H L D p.260
. . . . . . g.293933
AAGATTTTGATGTCTAAAGTTAAAGTGCCGCACACATTTGTCATCCACTCCTACACCCGG c.840
K I L M S K V K V P H T F V I H S Y T R p.280
. . . . . . g.293993
CCCACAGTGTGCCAGTACTGCAAGAAGCTTCTGAAGGGGCTTTTCAGGCAGGGCTTGCAG c.900
P T V C Q Y C K K L L K G L F R Q G L Q p.300
| 06. . . . . . g.294180
TGCAAAG | ATTGCAGATTCAACTGCCATAAACGTTGTGCACCGAAAGTACCAAACAACTGC c.960
C K D | C R F N C H K R C A P K V P N N C p.320
. . | 07 . . . . g.296234
CTTGGCGAAGTGACCATTAATGGAG | ATTTGCTTAGCCCTGGGGCAGAGTCTGATGTGGTC c.1020
L G E V T I N G D | L L S P G A E S D V V p.340
. . . . . . g.296294
ATGGAAGAAGGGAGTGATGACAATGATAGTGAAAGGAACAGTGGGCTCATGGATGATATG c.1080
M E E G S D D N D S E R N S G L M D D M p.360
. . . . . . g.296354
GAAGAAGCAATGGTCCAAGATGCAGAGATGGCAATGGCAGAGTGCCAGAACGACAGTGGC c.1140
E E A M V Q D A E M A M A E C Q N D S G p.380
. . . . . | 08 . g.298162
GAGATGCAAGATCCAGACCCAGACCACGAGGACGCCAACAGAACCATCAG | TCCATCAACA c.1200
E M Q D P D P D H E D A N R T I S | P S T p.400
. . . . . . g.298222
AGCAACAATATCCCACTCATGAGGGTAGTGCAGTCTGTCAAACACACGAAGAGGAAAAGC c.1260
S N N I P L M R V V Q S V K H T K R K S p.420
. . . . . | 09 . g.299753
AGCACAGTCATGAAAGAAGGATGGATGGTCCACTACACCAGCAAGGACACGCTG | CGGAAA c.1320
S T V M K E G W M V H Y T S K D T L | R K p.440
. . . . . . g.299813
CGGCACTATTGGAGATTGGATAGCAAATGTATTACCCTCTTTCAGAATGACACAGGAAGC c.1380
R H Y W R L D S K C I T L F Q N D T G S p.460
. | 10 . . . . . g.301720
AGGTACTACAAG | GAAATTCCTTTATCTGAAATTTTGTCTCTGGAACCAGTAAAAACTTCA c.1440
R Y Y K | E I P L S E I L S L E P V K T S p.480
. . . . . . g.301780
GCTTTAATTCCTAATGGGGCCAATCCTCATTGTTTCGAAATCACTACGGCAAATGTAGTG c.1500
A L I P N G A N P H C F E I T T A N V V p.500
. . . . . . g.301840
TATTATGTGGGAGAAAATGTGGTCAATCCTTCCAGCCCATCACCAAATAACAGTGTTCTC c.1560
Y Y V G E N V V N P S S P S P N N S V L p.520
. . . . . . g.301900
ACCAGTGGCGTTGGTGCAGATGTGGCCAGGATGTGGGAGATAGCCATCCAGCATGCCCTT c.1620
T S G V G A D V A R M W E I A I Q H A L p.540
. . . . . | 11 . g.303608
ATGCCCGTCATTCCCAAGGGCTCCTCCGTGGGTACAGGAACCAACTTGCACA | GAGATATC c.1680
M P V I P K G S S V G T G T N L H R | D I p.560
. . . . | 12 . . g.306152
TCTGTGAGTATTTCAGTATCAAATTGCCAGATTCAAGAAAATGTG | GACATCAGCACAGTA c.1740
S V S I S V S N C Q I Q E N V | D I S T V p.580
. . . . . | 13 g.308437
TATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTTATGGAG | GA c.1800
Y Q I F P D E V L G S G Q F G I V Y G G | p.600
. . . . . . g.308497
AAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCA c.1860
K H R K T G R D V A I K I I D K L R F P p.620
. . . . | 14 . . g.332891
ACAAAACAAGAAAGCCAGCTTCGTAATGAGGTTGCAATTCTACAG | AACCTTCATCACCCT c.1920
T K Q E S Q L R N E V A I L Q | N L H H P p.640
. . . . . . g.332951
GGTGTTGTAAATTTGGAGTGTATGTTTGAGACGCCTGAAAGAGTGTTTGTTGTTATGGAA c.1980
G V V N L E C M F E T P E R V F V V M E p.660
. . . . . . g.333011
AAACTCCATGGAGACATGCTGGAAATGATCTTGTCAAGTGAAAAGGGCAGGTTGCCAGAG c.2040
K L H G D M L E M I L S S E K G R L P E p.680
. . | 15. . . . g.333601
CACATAACGAAGTTTTTAATTACTCAG | ATACTCGTGGCTTTGCGGCACCTTCATTTTAAA c.2100
H I T K F L I T Q | I L V A L R H L H F K p.700
. . . . . . g.333661
AATATCGTTCACTGTGACCTCAAACCAGAAAATGTGTTGCTAGCCTCAGCTGATCCTTTT c.2160
N I V H C D L K P E N V L L A S A D P F p.720
| 16 . . . . . . g.334989
CCTCAG | GTGAAACTTTGTGATTTTGGTTTTGCCCGGATCATTGGAGAGAAGTCTTTCCGG c.2220
P Q | V K L C D F G F A R I I G E K S F R p.740
. . . . . . g.335049
AGGTCAGTGGTGGGTACCCCCGCTTACCTGGCTCCTGAGGTCCTAAGGAACAAGGGCTAC c.2280
R S V V G T P A Y L A P E V L R N K G Y p.760
. . . . . . g.335109
AATCGCTCTCTAGACATGTGGTCTGTTGGGGTCATCATCTATGTAAGCCTAAGCGGCACA c.2340
N R S L D M W S V G V I I Y V S L S G T p.780
. . . . . . g.335169
TTCCCATTTAATGAAGATGAAGACATACACGACCAAATTCAGAATGCAGCTTTCATGTAT c.2400
F P F N E D E D I H D Q I Q N A A F M Y p.800
. . . | 17 . . . g.354359
CCACCAAATCCCTGGAAGGAAATATCTCATGAAG | CCATTGATCTTATCAACAATTTGCTG c.2460
P P N P W K E I S H E A | I D L I N N L L p.820
. . . . . . g.354419
CAAGTAAAAATGAGAAAGCGCTACAGTGTGGATAAGACCTTGAGCCACCCTTGGCTACAG c.2520
Q V K M R K R Y S V D K T L S H P W L Q p.840
| 18 . . . . . . g.355297
| GACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATC c.2580
| D Y Q T W L D L R E L E C K I G E R Y I p.860
. . . . . . g.355357
ACCCATGAAAGTGATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAGGGGCTGCAGTAC c.2640
T H E S D D L R W E K Y A G E Q G L Q Y p.880
. . . . . . g.355417
CCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACTGAAGAAACA c.2700
P T H L I N P S A S H S D T P E T E E T p.900
. . . g.355456
GAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCTCTGA c.2739
E M K A L G E R V S I L X p.912
. . . . . . g.355516
gttccatctcctataatctgtcaaaacactgtggaactaataaatacatacggtcaggtt c.*60
. . . . . . g.355576
taacatttgccttgcagaactgccattattttctgtcagatgagaacaaagctgttaaac c.*120
. . . . . . g.355636
tgttagcactgttgatgtatctgagttgccaagacaaatcaacagaagcatttgtatttt c.*180
. . . . . . g.355696
gtgtgaccaactgtgttgtattaacaaaagttccctgaaacacgaaacttgttattgtga c.*240
. . . . . . g.355756
atgattcatgttatatttaatgcattaaacctgtctccactgtgcctttgcaaatcagtg c.*300
. . . . . . g.355816
tttttcttactggagcttcattttggtaagagacagaatgtatctgtgaagtagttctgt c.*360
. . . . . . g.355876
ttggtgtgtcccattggtgttgtcattgtaaacaaactcttgaagagtcgattatttcca c.*420
. . . . . . g.355936
gtgttctatgaacaactccaaaacccatgtgggaaaaaaatgaatgaggagggtagggaa c.*480
. . . . . . g.355996
taaaatcctaagacacaaatgcatgaacaagttttaatgtatagttttgaatcctttgcc c.*540
. . . . . . g.356056
tgcctggtgtgcctcagtatatttaaactcaagacaatgcacctagctgtgcaagaccta c.*600
. . . . . . g.356116
gtgctcttaagcctaaatgccttagaaatgtaaactgccatatataacagatacatttcc c.*660
. . . . . . g.356176
ctctttcttataatactctgttgtactatggaaaatcagctgctcagcaacctttcacct c.*720
. . . g.356215
ttgtgtatttttcaataataaaaaatattcttgtcaaaa c.*759
(downstream sequence)
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