(used for variant description)
(last modified May 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003159.2 in the CDKL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008475.1, covering CDKL5 transcript NM_003159.2.
(upstream sequence)
. g.5013
attagttgtctct c.-241
. . . . . . g.5073
gccgctggggaaggtaaagcggcgacggcgtcctcaggagctgtggggtcccctgctaga c.-181
. . | 02. . . . g.86372
agtgggggactcggcggg | ggagtcatttaatacttcatgattagaacaaatatgtgaaag c.-121
. . . . . . g.86432
ttcccaccaaccagtgagaatttcttccttcagacggttttggatcttactgcacagctt c.-61
. . . . . . g.86492
tctgagaagttcttttggtgccatgttttgtggcttgcatcaaaagaggagtttgtcttc c.-1
. . . . . . g.86552
ATGAAGATTCCTAACATTGGTAATGTGATGAATAAATTTGAGATCCTTGGGGTTGTAGGT c.60
M K I P N I G N V M N K F E I L G V V G p.20
| 03 . . . | 04 . . g.143893
GAAG | GAGCCTATGGAGTTGTACTTAAATGCAGACACAAG | GAAACACATGAAATTGTGGCG c.120
E G | A Y G V V L K C R H K | E T H E I V A p.40
. . | 05 . . . . g.154784
ATCAAGAAATTCAAGGACAGTGAAG | AAAATGAAGAAGTCAAAGAAACGACTTTACGAGAG c.180
I K K F K D S E E | N E E V K E T T L R E p.60
. . . . . . g.154844
CTTAAAATGCTTCGGACTCTCAAGCAGGAAAACATTGTGGAGTTGAAGGAAGCATTTCGT c.240
L K M L R T L K Q E N I V E L K E A F R p.80
. . . . | 06 . . g.159261
CGGAGGGGAAAGTTGTACTTGGTGTTTGAGTATGTTGAAAAA | AATATGCTCGAATTGCTG c.300
R R G K L Y L V F E Y V E K | N M L E L L p.100
. . . . . . g.159321
GAAGAAATGCCAAATGGAGTTCCACCTGAGAAAGTAAAAAGCTACATCTATCAGCTAATC c.360
E E M P N G V P P E K V K S Y I Y Q L I p.120
. . . . | 07 . . g.161303
AAGGCTATTCACTGGTGCCATAAGAATGATATTGTCCATCGAG | ATATAAAACCAGAAAAT c.420
K A I H W C H K N D I V H R D | I K P E N p.140
. . . . | 08 . . g.163675
CTCTTAATCAGCCACAATGATGTCCTAAAACTGTGTGACTTTG | GTTTTGCTCGTAATCTG c.480
L L I S H N D V L K L C D F G | F A R N L p.160
. . . . . . g.163735
TCAGAAGGCAATAATGCTAATTACACAGAGTACGTTGCCACCAGATGGTATCGGTCCCCA c.540
S E G N N A N Y T E Y V A T R W Y R S P p.180
. | 09 . . . . . g.167395
GAACTCTTACTTGG | CGCTCCCTATGGAAAGTCCGTGGACATGTGGTCGGTGGGCTGTATT c.600
E L L L G | A P Y G K S V D M W S V G C I p.200
. . . . . . g.167455
CTTGGGGAGCTTAGCGATGGACAGCCTTTATTTCCTGGAGAAAGTGAAATTGACCAACTT c.660
L G E L S D G Q P L F P G E S E I D Q L p.220
. . . . . . g.167515
TTTACTATTCAGAAGGTGCTAGGACCACTTCCATCTGAGCAGATGAAGCTTTTCTACAGT c.720
F T I Q K V L G P L P S E Q M K L F Y S p.240
. . | 10 . . . . g.174779
AATCCTCGCTTCCATGGGCTCCGG | TTTCCAGCTGTTAACCATCCTCAGTCCTTGGAAAGA c.780
N P R F H G L R | F P A V N H P Q S L E R p.260
. . . . | 11 . . g.177872
AGATACCTTGGAATTTTGAATAGTGTTCTACTTGACCTAATGAAG | AATTTACTGAAGTTG c.840
R Y L G I L N S V L L D L M K | N L L K L p.280
. . . . . . g.177932
GACCCAGCTGACAGATACTTGACAGAACAGTGTTTGAATCACCCTACATTTCAAACCCAG c.900
D P A D R Y L T E Q C L N H P T F Q T Q p.300
. . . . . . g.177992
AGACTTCTGGATCGTTCTCCTTCAAGGTCAGCAAAAAGAAAACCTTACCATGTGGAAAGC c.960
R L L D R S P S R S A K R K P Y H V E S p.320
. | 12. . . . . g.183340
AGCACATTGTCTAATAG | AAACCAAGCCGGCAAAAGTACTGCTTTGCAGTCTCACCACAGA c.1020
S T L S N R | N Q A G K S T A L Q S H H R p.340
. . . . . . g.183400
TCTAACAGCAAGGACATCCAGAACCTGAGTGTAGGCCTGCCCCGGGCTGACGAAGGTCTC c.1080
S N S K D I Q N L S V G L P R A D E G L p.360
. . . . . . g.183460
CCTGCCAATGAAAGCTTCCTAAATGGAAACCTTGCTGGAGCTAGTCTTAGTCCACTGCAC c.1140
P A N E S F L N G N L A G A S L S P L H p.380
. . . . . . g.183520
ACCAAAACCTACCAAGCAAGCAGCCAGCCTGGGTCTACCAGCAAAGATCTCACCAACAAC c.1200
T K T Y Q A S S Q P G S T S K D L T N N p.400
. . . . . . g.183580
AACATACCACACCTTCTTAGCCCAAAAGAAGCCAAGTCAAAAACAGAGTTTGATTTTAAT c.1260
N I P H L L S P K E A K S K T E F D F N p.420
. . . . . . g.183640
ATTGACCCAAAGCCTTCAGAAGGCCCAGGGACAAAGTACCTCAAGTCAAACAGCAGATCT c.1320
I D P K P S E G P G T K Y L K S N S R S p.440
. . . . . . g.183700
CAGCAGAACCGCCACTCATTCATGGAAAGCTCTCAAAGCAAAGCTGGGACACTGCAGCCC c.1380
Q Q N R H S F M E S S Q S K A G T L Q P p.460
. . . . . . g.183760
AATGAAAAGCAGAGTCGGCATAGCTATATTGACACAATTCCCCAGTCCTCTAGGAGTCCC c.1440
N E K Q S R H S Y I D T I P Q S S R S P p.480
. . . . . . g.183820
TCCTACAGGACCAAGGCCAAAAGCCATGGGGCACTGAGTGACTCCAAGTCTGTGAGCAAC c.1500
S Y R T K A K S H G A L S D S K S V S N p.500
. . . . . . g.183880
CTTTCTGAAGCCAGGGCCCAAATTGCGGAGCCCAGTACCAGTAGGTACTTCCCATCTAGC c.1560
L S E A R A Q I A E P S T S R Y F P S S p.520
. . . . . . g.183940
TGCTTAGACTTGAATTCTCCCACCAGCCCAACCCCCACCAGACACAGTGACACGAGAACT c.1620
C L D L N S P T S P T P T R H S D T R T p.540
. . . . . . g.184000
TTGCTCAGCCCTTCTGGAAGAAATAACCGAAATGAGGGAACGCTGGACTCACGTCGAACC c.1680
L L S P S G R N N R N E G T L D S R R T p.560
. . . . . . g.184060
ACAACCAGACATTCTAAGACGATGGAGGAATTGAAGCTGCCGGAGCACATGGACAGTAGC c.1740
T T R H S K T M E E L K L P E H M D S S p.580
. . . . . . g.184120
CATTCCCATTCACTGTCTGCACCTCACGAATCTTTTTCTTATGGACTGGGCTACACCAGC c.1800
H S H S L S A P H E S F S Y G L G Y T S p.600
. . . . . . g.184180
CCCTTTTCTTCCCAGCAACGTCCTCATAGGCATTCTATGTATGTGACCCGTGACAAAGTG c.1860
P F S S Q Q R P H R H S M Y V T R D K V p.620
. . . . . . g.184240
AGAGCCAAGGGCTTGGATGGAAGCTTGAGCATAGGGCAAGGGATGGCAGCTAGAGCCAAC c.1920
R A K G L D G S L S I G Q G M A A R A N p.640
. . | 13 . . . . g.188242
AGCCTGCAACTCTTGTCACCCCAG | CCTGGAGAACAGCTCCCTCCAGAGATGACTGTGGCA c.1980
S L Q L L S P Q | P G E Q L P P E M T V A p.660
. . . . . . g.188302
AGATCTTCGGTCAAAGAGACCTCCAGAGAAGGCACCTCTTCCTTCCATACACGCCAGAAG c.2040
R S S V K E T S R E G T S S F H T R Q K p.680
| 14 . . . . . . g.188914
TCTGAG | GGTGGAGTGTATCATGACCCACACTCTGATGATGGCACAGCCCCCAAAGAAAAT c.2100
S E | G G V Y H D P H S D D G T A P K E N p.700
. . . . . | 15 . g.192555
AGACACCTATACAATGATCCTGTGCCAAGGAGAGTTGGTAGCTTTTACAGAG | TGCCATCT c.2160
R H L Y N D P V P R R V G S F Y R V | P S p.720
. . . . . . g.192615
CCACGTCCAGACAATTCTTTCCATGAAAATAATGTGTCAACTAGAGTTTCTTCTCTACCA c.2220
P R P D N S F H E N N V S T R V S S L P p.740
. . . . . | 16 . g.199266
TCAGAGAGCAGTTCTGGAACCAACCACTCAAAAAGACAACCAGCATTCGATCCATG | GAAA c.2280
S E S S S G T N H S K R Q P A F D P W | K p.760
. . . . . . g.199326
AGTCCTGAAAATATTAGTCATTCAGAGCAACTCAAGGAAAAAGAGAAGCAAGGATTTTTC c.2340
S P E N I S H S E Q L K E K E K Q G F F p.780
. . . | 17 . . . g.204547
AGGTCAATGAAAAAGAAAAAGAAGAAATCTCAAACA | GTACCCAATTCCGACAGCCCTGAT c.2400
R S M K K K K K K S Q T | V P N S D S P D p.800
. . . . . . g.204607
CTTCTGACGTTGCAGAAATCCATTCATTCTGCTAGCACTCCAAGCAGCAGACCAAAGGAG c.2460
L L T L Q K S I H S A S T P S S R P K E p.820
. . . | 18 . . . g.207790
TGGCGCCCCGAGAAGATCTCAGATCTGCAGACCCAA | AGCCAGCCATTAAAATCACTGCGC c.2520
W R P E K I S D L Q T Q | S Q P L K S L R p.840
. . . . . . g.207850
AAGTTGTTACATCTCTCTTCGGCCTCAAATCACCCGGCTTCCTCAGATCCCCGCTTCCAG c.2580
K L L H L S S A S N H P A S S D P R F Q p.860
. . . . . . g.207910
CCCTTAACAGCTCAACAAACCAAAAATTCCTTCTCAGAAATTCGGATTCACCCCCTGAGC c.2640
P L T A Q Q T K N S F S E I R I H P L S p.880
. . . . . . g.207970
CAGGCCTCTGGCGGGAGCAGCAACATCCGGCAGGAACCCGCACCGAAGGGCAGGCCAGCC c.2700
Q A S G G S S N I R Q E P A P K G R P A p.900
. | 19 . . . . . g.225449
CTCCAGCTGCCAG | ACGGTGGATGTGATGGCAGAAGACAGAGACACCATTCTGGACCCCAA c.2760
L Q L P D | G G C D G R R Q R H H S G P Q p.920
. . . | 20. . . g.229828
GATAGACGCTTCATGTTAAGGACGACAGAACAACAAG | GAGAATACTTCTGCTGTGGTGAC c.2820
D R R F M L R T T E Q Q G | E Y F C C G D p.940
. . . . . . g.229888
CCAAAGAAGCCTCACACTCCGTGCGTCCCAAACCGAGCCCTTCATCGTCCAATCTCCAGT c.2880
P K K P H T P C V P N R A L H R P I S S p.960
. . . . . . g.229948
CCTGCTCCCTATCCAGTACTCCAGGTCCGAGGCACTTCCATGTGCCCGACACTCCAGGTC c.2940
P A P Y P V L Q V R G T S M C P T L Q V p.980
. . . . | 21 . . g.232847
CGAGGCACTGATGCTTTCAGCTGCCCAACCCAGCAATCCG | GGTTCTCTTTCTTCGTGAGA c.3000
R G T D A F S C P T Q Q S G | F S F F V R p.1000
. . . . . . g.232907
CACGTTATGAGGGAAGCCCTGATTCACAGGGCCCAGGTAAACCAAGCTGCGCTCCTGACA c.3060
H V M R E A L I H R A Q V N Q A A L L T p.1020
. . . g.232940
TACCATGAGAATGCGGCACTGACGGGCAAGTGA c.3093
Y H E N A A L T G K X p.1030
. . . . . . g.233000
cttctgcaagcctgcggctggtcccaatgccctgaatcacctctctcatggaagaaccaa c.*60
. . g.233025
ttaacaccaatgaatcaaccattaa c.*85
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center