(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003688.3 in the CASK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016754.1, covering CASK transcript NM_003688.3.
(upstream sequence)
. . . . g.5046
ccgttttcgaagccctccacgctgcggccgctatcccctccggacc c.-1
. . . . . | 02 g.74808
ATGGCCGACGACGACGTGCTGTTCGAGGATGTGTACGAGCTGTGCGAGGTGATCGGAAA | G c.60
M A D D D V L F E D V Y E L C E V I G K | p.20
. . . . . . g.74868
GGTCCCTTCAGTGTTGTACGACGATGTATCAACAGAGAAACTGGGCAACAATTTGCTGTA c.120
G P F S V V R R C I N R E T G Q Q F A V p.40
. . . . . | 03 . g.140759
AAAATTGTTGATGTAGCCAAGTTCACATCAAGTCCAGGGTTAAGTACAGAAG | ATCTAAAG c.180
K I V D V A K F T S S P G L S T E D | L K p.60
. . . . . . g.140819
CGGGAAGCCAGTATCTGTCATATGCTGAAACATCCACACATTGTAGAGTTATTGGAGACA c.240
R E A S I C H M L K H P H I V E L L E T p.80
. . . | 04 . . g.182455
TATAGCTCAGATGGAATGCTTTACATGGTTTTCGAATT | TATGGATGGAGCAGATCTGTGT c.300
Y S S D G M L Y M V F E F | M D G A D L C p.100
. . . . . | 05 . g.188582
TTTGAAATCGTAAAGCGAGCTGACGCTGGTTTTGTGTACAGTGAAGCTGTAGCCAG | CCAT c.360
F E I V K R A D A G F V Y S E A V A S | H p.120
. . . . . . g.188642
TATATGAGACAGATACTGGAAGCTCTACGCTACTGCCATGATAATAACATAATTCACAGG c.420
Y M R Q I L E A L R Y C H D N N I I H R p.140
| 06 . . . . . g.256555
GATGTGAAG | CCCCACTGTGTTCTCCTTGCCTCAAAAGAAAACTCGGCACCTGTTAAACTT c.480
D V K | P H C V L L A S K E N S A P V K L p.160
. . . . . | 07 . g.262590
GGAGGCTTTGGGGTAGCTATTCAATTAGGGGAGTCTGGACTTGTAGCTGGAG | GACGTGTT c.540
G G F G V A I Q L G E S G L V A G G | R V p.180
. . . . . . g.262650
GGAACACCTCATTTTATGGCACCAGAAGTGGTCAAAAGAGAGCCTTACGGAAAGCCTGTA c.600
G T P H F M A P E V V K R E P Y G K P V p.200
. . . . . . g.262710
GACGTCTGGGGGTGCGGTGTGATCCTTTTTATCCTGCTCAGTGGTTGTTTGCCTTTTTAC c.660
D V W G C G V I L F I L L S G C L P F Y p.220
. . . . | 08 . g.267485
GGAACCAAGGAAAGATTGTTTGAAGGCATTATTAAAGGAAAATATAAG | ATGAATCCAAGG c.720
G T K E R L F E G I I K G K Y K | M N P R p.240
. . . . . . g.267545
CAGTGGAGCCATATCTCTGAAAGTGCCAAAGACCTAGTACGTCGCATGCTGATGCTGGAT c.780
Q W S H I S E S A K D L V R R M L M L D p.260
. . . . . | 09 . g.291382
CCAGCTGAAAGGATCACTGTTTATGAAGCACTGAATCACCCATGGCTTAAG | GAGCGGGAT c.840
P A E R I T V Y E A L N H P W L K | E R D p.280
. . . . . . g.291442
CGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCA c.900
R Y A Y K I H L P E T V E Q L R K F N A p.300
. | 10 . . . . . g.301376
AGGAGGAAACTAAAG | GGTGCAGTACTAGCCGCTGTGTCAAGTCACAAATTCAACTCATTC c.960
R R K L K | G A V L A A V S S H K F N S F p.320
. . . . . | 11 . g.305405
TATGGGGATCCCCCTGAAGAGTTACCAGATTTCTCCGAAGACCCTACCTCCTCAG | GACTT c.1020
Y G D P P E E L P D F S E D P T S S G | L p.340
. | 12 . . . . . g.318056
CTAGCAGCAGAAA | GAGCAGTCTCACAGGTGCTGGACAGCCTGGAAGAGATTCATGCGCTT c.1080
L A A E R | A V S Q V L D S L E E I H A L p.360
. . . . . . g.318116
ACAGACTGCAGTGAAAAGGACCTAGATTTTCTACACAGTGTTTTCCAGGATCAGCATCTT c.1140
T D C S E K D L D F L H S V F Q D Q H L p.380
. | 13 . . . . . g.338487
CACACACTACTAGAT | CTGTATGACAAAATTAACACAAAGTCTTCACCACAAATCAGGAAT c.1200
H T L L D | L Y D K I N T K S S P Q I R N p.400
. . . | 14 . . . g.341074
CCTCCAAGCGATGCAGTACAGAGAGCCAAAGAG | GTATTGGAAGAAATTTCATGTTACCCT c.1260
P P S D A V Q R A K E | V L E E I S C Y P p.420
. . . . . | 15 . g.349512
GAGAATAACGACGCAAAGGAACTAAAGCGTATTTTAACACAACCTCATTTCATG | GCCTTA c.1320
E N N D A K E L K R I L T Q P H F M | A L p.440
. . . . . . g.349572
CTTCAGACTCACGACGTAGTGGCACATGAAGTTTACAGTGATGAAGCATTGAGGGTCACA c.1380
L Q T H D V V A H E V Y S D E A L R V T p.460
. . . . . . g.349632
CCTCCTCCCACCTCTCCCTATTTAAACGGCGATTCTCCAGAAAGTGCTAACGGAGACATG c.1440
P P P T S P Y L N G D S P E S A N G D M p.480
. . . . . . g.349692
GATATGGAGAATGTGACCAGAGTTCGGCTGGTACAGTTTCAAAAGAACACAGATGAACCA c.1500
D M E N V T R V R L V Q F Q K N T D E P p.500
| 16 . . . . . . g.358345
ATG | GGAATCACTTTAAAAATGAATGAACTAAATCATTGTATTGTTGCAAGAATTATGCAT c.1560
M | G I T L K M N E L N H C I V A R I M H p.520
. . | 17 . . . . g.366428
GGGGGCATGATTCACAGGCAAG | GTACACTTCATGTTGGTGATGAAATTCGAGAAATCAAT c.1620
G G M I H R Q G | T L H V G D E I R E I N p.540
. . . . | 18 . g.368199
GGCATCAGTGTGGCTAACCAAACAGTGGAACAACTGCAAAAAATGCTT | AGGGAAATGCGG c.1680
G I S V A N Q T V E Q L Q K M L | R E M R p.560
. . . . . | 19. g.370937
GGGAGTATTACCTTCAAGATTGTGCCAAGTTACCGCACTCAGTCTTCGTCCTGTGAG | AGA c.1740
G S I T F K I V P S Y R T Q S S S C E | R p.580
. . . . . . g.370997
GATTCCCCTTCCACTTCCAGACAGTCCCCAGCTAATGGTCATAGCAGCACTAACAATTCT c.1800
D S P S T S R Q S P A N G H S S T N N S p.600
| 20 . . . . | 21 . . g.374137
GTTTCG | GACTTGCCATCAACTACCCAACCAAAAGGACGACAG | ATCTATGTAAGAGCACAA c.1860
V S | D L P S T T Q P K G R Q | I Y V R A Q p.620
. . . . . . g.374197
TTTGAATATGATCCAGCCAAGGATGACCTCATCCCCTGTAAAGAAGCTGGCATTCGATTC c.1920
F E Y D P A K D D L I P C K E A G I R F p.640
. . . . . . g.374257
AGAGTTGGTGACATCATCCAGATTATTAGTAAGGATGATCATAATTGGTGGCAGGGTAAA c.1980
R V G D I I Q I I S K D D H N W W Q G K p.660
. . . . . | 22 g.385229
CTGGAAAACTCCAAAAATGGAACTGCAGGTCTCATTCCTTCTCCTGAACTTCAGGAATG | G c.2040
L E N S K N G T A G L I P S P E L Q E W | p.680
. . . . . . g.385289
CGAGTAGCTTGCATTGCCATGGAGAAGACCAAACAGGAGCAGCAGGCCAGCTGTACTTGG c.2100
R V A C I A M E K T K Q E Q Q A S C T W p.700
. . . . . | 23 . g.393081
TTTGGCAAGAAAAAGAAGCAGTACAAAGATAAATATTTGGCAAAGCACAATGCAG | ATCTT c.2160
F G K K K K Q Y K D K Y L A K H N A D | L p.720
. . . . . . g.393141
GTCACATATGAAGAAGTAGTAAAACTGCCAGCATTCAAGAGGAAAACACTAGTCTTATTA c.2220
V T Y E E V V K L P A F K R K T L V L L p.740
| 24 . . . . . . g.393307
G | GCGCACATGGTGTTGGGAGAAGACACATAAAAAACACTCTCATCACAAAGCACCCAGAC c.2280
G | A H G V G R R H I K N T L I T K H P D p.760
. . | 25 . . . . g.396863
CGGTTTGCGTACCCTATTCCAC | ATACAACCAGACCTCCAAAGAAAGACGAAGAAAATGGA c.2340
R F A Y P I P H | T T R P P K K D E E N G p.780
. . . . . . g.396923
AAGAATTATTACTTTGTATCTCATGACCAAATGATGCAAGACATCTCTAATAACGAGTAC c.2400
K N Y Y F V S H D Q M M Q D I S N N E Y p.800
. . . . . . g.396983
TTGGAGTACGGCAGCCACGAGGATGCGATGTATGGGACAAAACTGGAGACCATCCGGAAG c.2460
L E Y G S H E D A M Y G T K L E T I R K p.820
. . . . | 26 . . g.404015
ATCCACGAGCAGGGGCTGATTGCAATACTGGACGTGGAGCCTCAG | GCACTGAAGGTCCTG c.2520
I H E Q G L I A I L D V E P Q | A L K V L p.840
. . . . . . g.404075
AGAACTGCAGAGTTTGCTCCTTTTGTTGTTTTCATTGCTGCACCAACTATTACTCCAGGT c.2580
R T A E F A P F V V F I A A P T I T P G p.860
| 27 . . . . . g.407489
TTAAATGAG | GATGAATCTCTTCAGCGTCTGCAGAAGGAGTCTGACATCTTACAGAGAACA c.2640
L N E | D E S L Q R L Q K E S D I L Q R T p.880
. . . . . . g.407549
TATGCACACTACTTCGATCTCACAATTATCAACAATGAAATTGATGAGACAATCAGACAT c.2700
Y A H Y F D L T I I N N E I D E T I R H p.900
. . . . . . g.407609
CTGGAGGAAGCTGTTGAGCTCGTGTGCACAGCCCCACAGTGGGTCCCTGTCTCCTGGGTC c.2760
L E E A V E L V C T A P Q W V P V S W V p.920
g.407615
TATTAG c.2766
Y X p.921
. . . . . . g.407675
gcctctccccagatatctgagcataactgggagcacctcatttgtggaaaagcctctttg c.*60
. . . . . . g.407735
ttatcggccttgtgtcagcaggtcatggtccctagagactacctagttgtagtgtgacct c.*120
. . . . . . g.407795
acatttataattattgtcatgtccgaatagataggaggagaaaaacaattacacactaat c.*180
. . . . . . g.407855
ttaaagagacagtatcttttttaatcagttctcctaaactttaataaaatgtatctttaa c.*240
. . . . . . g.407915
atgtatgtattattcaatcctttggaatgttatatttttggaaatcatagctttttattt c.*300
. . . . . . g.407975
ccaaggcccctaaaaactgcacaaaatagatgctgctttctataatctattttaataata c.*360
. . . . . . g.408035
ataaacaatgattctgttaccttgactgggggtggaacactacattctttttagagtctg c.*420
. . . . . . g.408095
attttatggattggaatattgggatatctttctttcctttatttatttgaaataattagt c.*480
. . . . . . g.408155
gtagtgattacaaaacagtcataaatttttaaaggccttttttctctctttttttttttt c.*540
. . . . . . g.408215
tagaatagtatttttttttaagtcctttatgtaacatccagataatgtgatactgtctct c.*600
. . . . . . g.408275
ttgaagcaccctgtaaaccttttagagatttgaagttgggtcttgactcttaatgcatgt c.*660
. . . . . . g.408335
ggacagtcgcgagcgtttatgctgtcggtgtgtctgtgttggacaaaacaatctgtaatc c.*720
. . . . . . g.408395
tacagcaaagtacattctacattccgttcatggggcacacccaggggaataagaataaaa c.*780
. . . . . . g.408455
tgctattatgactaagttgtaaacctatgcacatcccttgcattttgggcaactttataa c.*840
. . . . . . g.408515
aaaaaaagaaactgatttttattaataataatcatgtagtgaaatgtgtttgtaattttg c.*900
. . . . . . g.408575
tctcaatttaatttgttgtaaggtggggtggggggaattgctggtttcaccatttcagat c.*960
. . . . . . g.408635
ctgtgttgtctaagagtattaacgttttaattaagcaaagaaatgatttttaatctgtat c.*1020
. . . . . . g.408695
gtaattgttttaaagcacccattttaagagaaaatactgtgcaatgaagaaaccagttta c.*1080
. . . . . . g.408755
ggcatttgctataaactgaaatattccaaaagaatcatctataacagccctgtaaattcc c.*1140
. . . . . . g.408815
tttaaaatgataactaacaggacagtttgaccaattttttttaaatatacttccttttat c.*1200
. . . . . . g.408875
gtgttcaataattaaatgcctttgggtccttcatttcattatagatttgttcaggcttcc c.*1260
. . . . . . g.408935
aagctgataatctttacaattgtataatttgttagatgctcattgaacctttgaaggccc c.*1320
. . . . . . g.408995
aggagtgagtatcagttggcagggtgacaaagtagcctgccagagcacagctggaccacg c.*1380
. . . . . . g.409055
tctgactcgcacagagccatgcgcccaagggccacgggtgtactggaggccacctgtggt c.*1440
. . . . . . g.409115
ctctccttcctcttgctgtatcccttggcacaggggaatcatctgtccttgttgctttag c.*1500
. . . . . . g.409175
agacattaaccatctcataactcttccatgaagtcacattcttccaatacaggagattcg c.*1560
. . . . . . g.409235
ggctggggttctcagactctttgccagaggtcagtagaatgtttttcattagcatgtgag c.*1620
. . . . . . g.409295
ggtgtgaagtgcttatattaacctgtgatccttgaaaacataccatcattttttgcttct c.*1680
. . . . . . g.409355
tgtaggttagatggccttgtcactttgtgccttggcaggatgtgcagggtgtgttctgag c.*1740
. . . . . . g.409415
ctgaacagctcctcttaaaggaccaaacagagaaggcattagtatacttcttttacattg c.*1800
. . . . . . g.409475
tcaacaccatacccgcctccgccccccaccgcctattattaaatggtggcgatttttttt c.*1860
. . . . . . g.409535
tttctgatgttgttctttgccagtgaccagatgagtctgcaacttactaacaaggtattg c.*1920
. . . . . . g.409595
agtgaactacttctgtatgggccccacagtggggtgaccaagccaccaaaccagagataa c.*1980
. . . . . . g.409655
gctcaacagtggtctcacactagatagagagagaaaccttcaaagagttgggtagggctg c.*2040
. . . . . . g.409715
tgttagaactgattcgaatctgatagatgccaaggccagacagtcgttcctggtatggta c.*2100
. . . . . . g.409775
ctgaccacaatttcgggctcttagtgtgaaggtgcgcactctacctcttttctggtgaag c.*2160
. . . . . . g.409835
cacaaagacaactacaactaacacatgggaaacagaaacttccctccctctagtggaaac c.*2220
. . . . . . g.409895
ccccacgcccccacttgccctttgagcccacatctccagagatgctgatgatgcctgtct c.*2280
. . . . . . g.409955
taagccatctgccatatttataaaggtggattaagcagaggaggagaaaagcaatgccaa c.*2340
. . . . . . g.410015
cttaaatgtctgtggccccacaattcacaagcactgtagcactcatcctcagtggcttta c.*2400
. . . . . . g.410075
tacgtcctctgagaagcacacaggcaggcatcattcttgccatcattccgatggtgaaat c.*2460
. . . . . . g.410135
ccctgcatgcagaactcattgacttctcaaagatgttacctgttccattccactaataca c.*2520
. . . . . . g.410195
tgtcttctctaaagcagtgtctttatgacctagctgcatatacttacatttctgaattca c.*2580
. . . . . . g.410255
gagtaatttcagtacattgctgctgctgctgctgctgctgctgctgctgctgctgctgct c.*2640
. . . . . . g.410315
gctgctgctactgctacattacaattgtccactaagcaatcagagaaaattgctaaaagc c.*2700
. . . . . . g.410375
ttctttactgcttccattccatcagcagaacctttttttttctttctttcttttaaagac c.*2760
. . . . . . g.410435
cagaatgaatgtttagagtactaaatcttattagtggtcaattgaagtattggagagcca c.*2820
. . . . . . g.410495
cattttgaaggttctctcccccacccaactccattccccacagcaagaaagggagtgttt c.*2880
. . . . . . g.410555
ttatatgttgaattctttgttaaaaagatgaaatgtcctgattttccagtcacaagacag c.*2940
. . . . . . g.410615
taattactttgcacatacagcatatcccattttaatgctaaaaagggaaatgtcactcaa c.*3000
. . . . . . g.410675
tttaattcatctggaagtttcccagtgtcaagataacattgtagcctttttaaatgcaat c.*3060
. . . . . . g.410735
taaatgtatctcttgtcaggtgagatgatttaaaatctttgctcagagaggaaaacaaat c.*3120
. . . . . . g.410795
ggttgacctacttcttgctatttgcattcagaaggcatcgtcccagcccatcctattggt c.*3180
. . . . . . g.410855
ggcagaatatctaaagatgtcgcaaagtcccccactgcagtagaaatgcaggaggtgttc c.*3240
. . . . . . g.410915
ctgttccccgtccaattccttcttaggctgctagagacagccagtgggccaagccttccc c.*3300
. . . . . . g.410975
ctgtgctccaggcaggcctgggctgcagctactgttacctttttacagcctttgatctga c.*3360
. . . . . . g.411035
tcgctgcagagttcttttgtttttaaatcacttgtatttgtctcttcattaaggcttcaa c.*3420
. . . . . . g.411095
gtttatttcttgaaaaagtttagtcaattgaaccaccctccaggaagattcccagcgtgg c.*3480
. . . . . . g.411155
aaactgcccctgaaaaacaaggcagcccaaagccagctctcttttgtcccccactgatgt c.*3540
. . . . . . g.411215
catgtcctttttttttttcatttcaggccagtttcttaacttggggcaaagagaatgtgt c.*3600
. . . . . . g.411275
tgctaaagctaccaagaaaactgcttgattaacaaattcttaatagaaatgcctcccaca c.*3660
. . . . . . g.411335
ctgtctctttgaaaagagaaggcaccttggaatcggcattccaaaaccaagctccttgtc c.*3720
. . . . . . g.411395
atcctcatccctcctccttcttgcttcctattatcaaactcgtgtgtgtttcttgttttc c.*3780
. . . . . . g.411455
tcagaactgaacacagcctcctaattccatcctcttgactagggcttacaatactgagag c.*3840
. . . . . . g.411515
cgattacaggctgtaataagttaaaggtccctgagcgtggctttcttgttctgcgcctct c.*3900
. . . . . . g.411575
aattaattcttctattaaaagatgctttccttctcactgcagcttacagaaaggctacaa c.*3960
. . . . . . g.411635
gctttaatcacagatcatttcatttgccagagcctttccttttctaactcctttagaaat c.*4020
. . . . . . g.411695
aagatttccctctctgtttggaatctctggatacaggactctcctccaagctcatggctt c.*4080
. . . . . . g.411755
gattggctttgcctgtgcacacacacatcagtttgccttaaacttggagctatggggagt c.*4140
. . . . . . g.411815
cccagattttccagcttagtgggtgaagtttagctgtcacctacatccaggaagtggggg c.*4200
. . . . . . g.411875
aaaagggaaaaaaagaggatattcaccaccatgttcccatccggtctttcccctgccttg c.*4260
. . . . . . g.411935
ctttgtgcagcaggtgggcagacagagcccacagaaacagaagtagaaagagggccgcac c.*4320
. . . . . . g.411995
catctctggggccagcactcctaagtcttagctctttgtgggaatagaaaatcctgagct c.*4380
. . . . . . g.412055
cccaccacctctcgtctgaccctccatcaactccctcgaacctgtgcaaatggactgagc c.*4440
. . . . . . g.412115
aaaagaaaatggaaagagatgtttgtcaccacacaggagacctcctttctggccccaagc c.*4500
. . . . . . g.412175
acaactccatctctgcgtatgctcagaaactcagaatttagctgctacttatgtgttagc c.*4560
. . . . . . g.412235
tccattctctctggtgtgtgactgagagaacacgccagtgttcttactgacagaggctta c.*4620
. . . . . . g.412295
ggggtgaccctctctggacccagaggaagtacaacctctgtagcgagaattgtccttggg c.*4680
. . . . . . g.412355
aacagaaacaggcattcctccacagtgagtggctccccctattttttttttatttggaag c.*4740
. . . . . . g.412415
agaccaagaattgggggaattgatttccagtcttagctgtttcccggaatgtcatctgtg c.*4800
. . . . . . g.412475
caggcaggtaggcggctgccgggtgcagcaggcagcgtgactgatgtgaaggccgcccaa c.*4860
. . . . . . g.412535
tcctcacgtgctaagacccgagtatcgtgtttaattgcagtgtaggcacgtcgccattca c.*4920
. . . . . . g.412595
aactcagttctggggtggttttgcataaagttttgccaacgtgttcttttttctgtatgt c.*4980
. . . . . . g.412655
attattgcctttttataaaaggtgttgaagtattgtctcagtgataaaaagagagagatg c.*5040
. . . . . . g.412715
ttaatggttgttgtatatttcaccgtatccaattgtaagtatttgcagggtacagcagag c.*5100
. . . . . . g.412775
ccttagcttgcaagagcgtttgtgcaggaggtgtccctcaacacccaggagctgaaggga c.*5160
. . . . . . g.412835
ttggaaaggtttggattctttgtaaatgtcctgcttttctttctctctgtgtgtatctat c.*5220
. . . . . . g.412895
ttacatgccttagcacacgccctcccatcctgatccctttgccctgtcgccggaacaacc c.*5280
. . . . . . g.412955
agaatgctggtgcgctgccggcacagtacaagttgatgaaaccctaatcagttatcttgt c.*5340
. . . . . . g.413015
gtgacaggggaagaagagaaactccatagtattccttgtagaatatacatacctgtagga c.*5400
. . . . . . g.413075
tgctgtgtaatgggaaaccatagaattgggcttttgtcatttcaaagttggagaaatgta c.*5460
. . g.413101
tgaataaaatgtataaaacatgaaaa c.*5486
(downstream sequence)
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