(used for variant description)
(last modified October 11, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_018947.5 in the CYCS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023438.1, covering CYCS transcript NM_018947.5.
(upstream sequence)
. . . . . g.5050
gtagccgccagctcggccgcacgtcagggcgcgggagcgcggagcgagtt c.-121
. . . . . . g.5110
tggttgcacttacaccggtacttaagcgcggaccggcgtgtccttggacttagagagtgg c.-61
. . . . . . | 02 g.6242
ggacgtccggcttcggagcgggagtgttcgttgtgccagcgactaaaaagag | aattaaat c.-1
. . . . . . g.6302
ATGGGTGATGTTGAGAAAGGCAAGAAGATTTTTATTATGAAGTGTTCCCAGTGCCACACC c.60
M G D V E K G K K I F I M K C S Q C H T p.20
. . . . . . g.6362
GTTGAAAAGGGAGGCAAGCACAAGACTGGGCCAAATCTCCATGGTCTCTTTGGGCGGAAG c.120
V E K G G K H K T G P N L H G L F G R K p.40
. . . . | 03 . g.6523
ACAGGTCAGGCCCCTGGATACTCTTACACAGCCGCCAATAAGAACAAAG | GCATCATCTGG c.180
T G Q A P G Y S Y T A A N K N K G | I I W p.60
. . . . . . g.6583
GGAGAGGATACACTGATGGAGTATTTGGAGAATCCCAAGAAGTACATCCCTGGAACAAAA c.240
G E D T L M E Y L E N P K K Y I P G T K p.80
. . . . . . g.6643
ATGATCTTTGTCGGCATTAAGAAGAAGGAAGAAAGGGCAGACTTAATAGCTTATCTCAAA c.300
M I F V G I K K K E E R A D L I A Y L K p.100
. g.6661
AAAGCTACTAATGAGTAA c.318
K A T N E X p.105
. . . . . . g.6721
taattggccactgccttatttattacaaaacagaaatgtctcatgacttttttatgtgta c.*60
. . . . . . g.6781
ccatcctttaatagatctcatacaccagaattcagatcatgaatgactgacagaatattt c.*120
. . . . . . g.6841
tgttgggcagtcctgatttaaaactaagactggcttgtggttaaatgaatatgttcagtt c.*180
. . . . . . g.6901
tttgaattttaatagtaactccaattcagtaaatggtatcactgtttaccccttttaaag c.*240
. . . . . . g.6961
atatgattagacttcgttagtaatgttcaacttttcacaaagatggtgagtgccatctta c.*300
. . . . . . g.7021
aaacttactggagattggttttatatttagatttatataactggttatgtgaatatattt c.*360
. . . . . . g.7081
aaatactggggaaattgcttcactgtcttagaaccaagcaagattcacctgtgttttgtg c.*420
. . . . . . g.7141
ttcatgttcatttgcctcttaaaggcaagggttgaagataaataaggtagcaatgtctat c.*480
. . . . . . g.7201
agttttggccttaactatgccaatctaattataattccctgtatttaaaatggtttcttt c.*540
. . . . . . g.7261
tacttattgaaaggcattttagtgtggtttatgtgtaatattaaagattattcaacacct c.*600
. . . . . . g.7321
ctcacatcttacagatctataaggtcacatgcttttaaaatagtagcaagttaaacttca c.*660
. . . . . . g.7381
ctcttgaattctttacaatctaagtcaaactaagttataatttaggattgtctttaaaca c.*720
. . . . . . g.7441
gccattcagaaacaaaactgtagaactgtgtatttgattgggaatggtgcttttgccaac c.*780
. . . . . . g.7501
ttaaaaggattaaagtaacggagatatacacaaattttaaaattatgtgtgatcacaaga c.*840
. . . . . . g.7561
ctaaagataattaaaaagaaaaccacagatcatgactttttgactgtgcttgatttcatg c.*900
. . . . . . g.7621
actgatgcacaaattttaatgattaaaaagtgcaggagccctaaatgtcagtgcagcagc c.*960
. . . . . . g.7681
cctaaatgtcagtgcagcagtgttaaccagtcatggtgctagattgtttacttggttttc c.*1020
. . . . . . g.7741
taggactgcctcaactagaataacacttcactaattgactcttagtttctttgctcagat c.*1080
. . . . . . g.7801
tgagaactgcagcatttatgccagacatggacagaggaatgcctgtggtcatagttttgt c.*1140
. . . . . . g.7861
gatgtgtaacagtgtataattacatactgaattatttcatgcatagtctgtgccatacac c.*1200
. . . . . . g.7921
atttagagtagtccttggagattttatggagatggtgagcacaaggtaagtcataaagaa c.*1260
. . . . . . g.7981
taatgagaaaataaatctatgctggtgcagctgagaactgtatctttgtgggacagtgag c.*1320
. . . . . . g.8041
aagactgagaagatgtgaatccatggtctcaaaggtgatagggacgattagataggtgtt c.*1380
. . . . . . g.8101
ttaaggcctgaaagcaatttataacatatgagtcttatttttatttatagaaatgtggaa c.*1440
. . . . . . g.8161
agcttgctgtaattcatatttgaagtcctagtctgagttctggtggggaatttaaaaatg c.*1500
. . . . . . g.8221
catcctggaaatcctttaaagatttcagactttgaaaggccttgtagcagaggacttggt c.*1560
. . . . . . g.8281
gactgtataaagttagtggtattcagggacagtgtagcaagtagcttacaaggggacaat c.*1620
. . . . . . g.8341
tctggactaatgagaaagacctgaagtgaaggctagagagttgattttttttttttttgg c.*1680
. . . . . . g.8401
catcctggaaatgatacaggaaacatattaagatagatacagaaatgtgttcaaccttcc c.*1740
. . . . . . g.8461
atcttggctagttgtggcgtttagtttgttttttgagacatggtcacgctgtgtcgccaa c.*1800
. . . . . . g.8521
ggctggagtgcagtggtgcgatctcggctggctgcaacctctatttcccaggctcaagcg c.*1860
. . . . . . g.8581
attctctcacttcagcttcccaagtagctgggactacaggtgttcgccaccatgcccagc c.*1920
. . . . . . g.8641
taatttttttgtagagatggagttttgccatgtggtcccaggctggtctcaaactcctga c.*1980
. . . . . . g.8701
gctcaagcaatccgtccacttgccttggctccccaaagtgctgggattacaggcgtgagc c.*2040
. . . . . . g.8761
caccaggccctgcctggttttcaaattcagaaatcttattatttaacccagaagtaatca c.*2100
. . . . . . g.8821
gcccagtagtaacttaggtttaattttttttcaggtttaaaatttttctcatttattttt c.*2160
. . . . . . g.8881
tctgagacggagtttcgcccttttcgcccaggctgagtacagtggtgcaatctcactgca c.*2220
. . . . . . g.8941
acctccgccttccagttgcaagtgattctcctgcctcagcctcctgagtagctgggatta c.*2280
. . . . . . g.9001
caggcacccgccaccacgcctggctaatttttgtatttttagtggagatggtgtttcacc c.*2340
. . . . . . g.9061
atgttggccagactggtcttggactcctgacctcgtgatccacccaccttggcctcccaa c.*2400
. . . . . . g.9121
agttctaggattacaggtgtgagccaccacgtccggccaatttttctcatttctatgcct c.*2460
. . . . . . g.9181
cctatattaaggtctgtgttggcacagatgagtaactgccatgttctaggtcagttatac c.*2520
. . . . . . g.9241
ccaagcacttctggtggtttaaaatgtgattctgtaacttttttatttttatttttttga c.*2580
. . . . . . g.9301
gataatttcactcttgttgcccaggctggagtgcaatggcgtgatcgctgctcaccgcaa c.*2640
. . . . . . g.9361
cctccgccttccaggttcaagcgattctcctgactcagcctctcaagtagctgggattac c.*2700
. . . . . . g.9421
aagcatgcgccaccatgcccagcttattttgtgtttttagtagagacagggtttctccat c.*2760
. . . . . . g.9481
gctggacaggctggtcttgaactcccgacgtcaggtgatctacctgcctcggcctcccaa c.*2820
. . . . . . g.9541
agtgctgggattacaggcgtgagccaccacgcctggccaattatgtaattttttaaaaag c.*2880
. . . . . . g.9601
gacatttctatcagggatatataccttcagaaataaggaaataggggaaaaaaagagcac c.*2940
. . . . . . g.9661
tataaaccacatgttttcatttctagtgcttcgctgtaagtggctaggttggtagaatca c.*3000
. . . . . . g.9721
aaaacaagggccagatgtatttaaggggtattcagatgccacctacatgcttattttgtc c.*3060
. . . . . . g.9781
tagaacagtgctgtctaatagaactttctgtgacgatggatattttgtagacttttgctg c.*3120
. . . . . . g.9841
tccagtgtggtagccactaaccacatgtggctgttaagcccttgaaatatagctagtgtg c.*3180
. . . . . . g.9901
actagaaagtattttattttaaatttacataggcacaagtggctagtggctactgtattg c.*3240
. . . . . . g.9961
acattctgggtctaggactagaaccagtggtctgtaacaaaagtactttctctttactct c.*3300
. . . . . . g.10021
attaaatctagaattagccgggcatggtcgctcatgcctgtaatcccagcactttgggag c.*3360
. . . . . . g.10081
gccaaggcaggcagatcacttgaggtcaggcgtttgagaccagcctggtcaacatggcga c.*3420
. . . . . . g.10141
aaccctgtctctacaaaaaacataaaaattagccaggtgtggtggtgggcacctgtaatc c.*3480
. . . . . . g.10201
tcagctacttgggaggctgaggcacaagaatcacttgaacttgggaggtggaggttgcag c.*3540
. . . . . . g.10261
tgagccaagattgtgccactgcactcaagcctgggtgacgagtgaaactgtctccaaaaa c.*3600
. . . . . . g.10321
aaaaaaaaaatctagaattcttggaagtacattatattgcccttcagaatagattccagt c.*3660
. . . . . . g.10381
tcctgttgtgctcacctttataattttaccataagttttacctattcgtaagttggcagt c.*3720
. . . . . . g.10441
tttagatagataacattctggtggtagctagggatttaccttttgtcatccttttcctgc c.*3780
. . . . . . g.10501
acttctcttgaattcctttatagatgtacagttttgctttaaccactgaagattgctgta c.*3840
. . . . . . g.10561
aattataaagggtgtgatagaatccacatggctgtcaagaaggagatcttaccaaggaca c.*3900
. . . . . . g.10621
gttgactgactagtctcagattgtttcatatcatttatacttgggtaagagtaaactaga c.*3960
. . . . . . g.10681
taactgggcgtcgtggtgcacacctgtagtcccagccactctgaggcaggaggactgctt c.*4020
. . . . . . g.10741
gtgcccagaagttcgaggctgcagtgtagctgtgattgtgctactgcactccagcctggg c.*4080
. . . . . . g.10801
caacagataaaggaaactccatctcttttaaaaaaaaaaaaagtggtctgggtgcagtag c.*4140
. . . . . . g.10861
gtcatgcctgcaatcccagcactttgggaggccaaggcaggcagatcacctgaggtcagg c.*4200
. . . . . . g.10921
agcttgagaccagcctggccaacatggtgaaaccccatctctaccaaaaatataaaaact c.*4260
. . . . . . g.10981
agctgggcgtggtggcggcacctgtaattgcagctatttgagaggctgaggcaggagaat c.*4320
. . . . . . g.11041
cgcttgaacctgggagatgggggttgcagtgagccaagaccgccccatcgcactccagcc c.*4380
. . . . . . g.11101
tgggcaacaatagtgaaactccgtctcaaaaagaaaaaaagtttccttagaatggaaaat c.*4440
. . . . . . g.11161
attcattcatgagctcttttggcaatccgtcatcagtatattctgaaaaccaataagatg c.*4500
. . . . . . g.11221
ttgccaagttgggggcgagagctatgtaatgcaaggcatatgcctgatgaagtatacaaa c.*4560
. . . . . . g.11281
tacacctgaccagaaactttgtctcccacataagtctcttctaggcactgtcggggtaca c.*4620
. . . . . . g.11341
tactgagctgctgctttggctgtattttctgtgcctcagaataaccattgtcctggtgtt c.*4680
. . . . . . g.11401
catatccttagagttcagtacaaaatgttggatatccatttaataggttccaggttatct c.*4740
. . . . . . g.11461
tagttggagtttggggtatttgaaaacgtcatgccttcaggctatcatttccctcagaaa c.*4800
. . . . . . g.11521
gctaagtaaatttactgcattcatttctcaaagagtaaaagtgcaggttgtatgtgtcta c.*4860
. . . . . . g.11581
tgaacatttaaacatgttaaaatgttaaatttaacattttaaatttaaacatttaaatat c.*4920
. . . . . . g.11641
gtctgtaacttgaacagtgtagtttcagaaaggaccactgggctagtgtaatgcagaaaa c.*4980
. . . . . . g.11701
tgctgggtctaggattaggagaaaattgtgtttagtgtgtatcaataaacagcccgtgga c.*5040
. g.11711
cccaatctga c.*5050
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 07c
©2004-2013 Leiden University Medical Center