(used for variant description)
(last modified August 20, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_181426.1 in the CCDC39 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering CCDC39 transcript NM_181426.1.
(upstream sequence)
. . . . . g.5055
tcccccggcaattgccgcggcactgtgcaggtgcctgggcttgacgcgggtgctg c.-61
. . . . . . g.5115
ctcacccgctgtacaagaaggcggatctttgctctgtatcttctctatccgtttgcagtc c.-1
. . . . . . g.5175
ATGAGTAGCGAATTCCTGGCTGAGCTGCACTGGGAGGATGGGTTCGCCATCCCGGTGGCG c.60
M S S E F L A E L H W E D G F A I P V A p.20
. . . | 02 . . . g.20539
AACGAGGAGAACAAGCTACTGGAAGATCAG | TTGTCAAAGCTGAAGGATGAAAGAGCAAGC c.120
N E E N K L L E D Q | L S K L K D E R A S p.40
. . . . . . g.20599
TTGCAAGATGAGTTACGTGAGTATGAAGAGCGAATTAATTCTATGACTTCTCACTTCAAA c.180
L Q D E L R E Y E E R I N S M T S H F K p.60
. . . | 03 . . . g.22518
AATGTTAAGCAAGAGCTCTCAATTACACAG | TCTCTTTGCAAAGCAAGGGAGCGTGAGACT c.240
N V K Q E L S I T Q | S L C K A R E R E T p.80
. . . . . . g.22578
GAAAGTGAAGAACATTTTAAGGCCATTGCTCAAAGAGAATTGGGACGAGTGAAAGATGAA c.300
E S E E H F K A I A Q R E L G R V K D E p.100
. . . . . | 04. g.23770
ATTCAACGGCTGGAAAATGAGATGGCTTCAATACTGGAAAAGAAAAGTGATAAAGAA | AAT c.360
I Q R L E N E M A S I L E K K S D K E | N p.120
. . . . . . g.23830
GGCATATTTAAAGCCACTCAAAAATTGGATGGTTTGAAATGTCAAATGAACTGGGACCAG c.420
G I F K A T Q K L D G L K C Q M N W D Q p.140
. . . . . . g.23890
CAAGCATTGGAGGCCTGGTTAGAAGAATCAGCTCATAAAGATAGTGATGCTCTCACTCTC c.480
Q A L E A W L E E S A H K D S D A L T L p.160
. . . | 05 . . . g.24750
CAGAAGTATGCACAACAAGATGATAATAAAATCAGG | GCACTGACTCTGCAATTAGAAAGA c.540
Q K Y A Q Q D D N K I R | A L T L Q L E R p.180
. . . . . . g.24810
CTAACTTTGGAATGTAATCAGAAAAGAAAGATACTTGACAACGAACTTACAGAGACTATA c.600
L T L E C N Q K R K I L D N E L T E T I p.200
| 06 . . . . . g.24966
AGCGCACAG | TTAGAATTGGATAAAGCAGCACAAGATTTTCGTAAGATTCATAATGAAAGA c.660
S A Q | L E L D K A A Q D F R K I H N E R p.220
. . . . . . g.25026
CAAGAACTCATTAAACAATGGGAGAACACAATAGAACAGATGCAGAAGAGGGATGGAGAC c.720
Q E L I K Q W E N T I E Q M Q K R D G D p.240
. | 07 . . . . g.29584
ATAGATAACTGTGCTTTG | GAATTAGCAAGGATAAAGCAGGAAACGAGAGAAAAAGAAAAT c.780
I D N C A L | E L A R I K Q E T R E K E N p.260
. . . . . . g.29644
TTGGTTAAAGAAAAGATCAAGTTTTTGGAAAGTGAGATTGGGAATAACACAGAGTTTGAG c.840
L V K E K I K F L E S E I G N N T E F E p.280
. . . . . . g.29704
AAAAGAATTTCTGTGGCTGATCGTAAACTTTTAAAATGTAGAACGGCATATCAGGACCAT c.900
K R I S V A D R K L L K C R T A Y Q D H p.300
. . . | 08 . . . g.32259
GAAACTAGTAGAATTCAGCTGAAGGGTGAG | CTGGATTCTTTAAAAGCCACTGTGAATAGA c.960
E T S R I Q L K G E | L D S L K A T V N R p.320
. . . . . . g.32319
ACTTCCAGTGATTTAGAAGCTCTGAGGAAAAATATTTCCAAGATAAAGAAGGACATTCAT c.1020
T S S D L E A L R K N I S K I K K D I H p.340
. | 09 . . . . . g.33008
GAAGAAACAGCAAG | GTTACAAAAAACTAAAAATCATAATGAGATAATACAAACAAAATTA c.1080
E E T A R | L Q K T K N H N E I I Q T K L p.360
. . . . . . g.33068
AAGGAGATAACTGAGAAAACCATGTCTGTAGAAGAGAAAGCTACTAATTTGGAAGATATG c.1140
K E I T E K T M S V E E K A T N L E D M p.380
. . | 10. . . . g.36169
CTAAAGGAGGAGGAAAAAGATGTGAAG | GAAGTAGATGTTCAACTGAACCTCATAAAAGGT c.1200
L K E E E K D V K | E V D V Q L N L I K G p.400
. . . . . . g.36229
GTGCTGTTTAAGAAAGCTCAGGAGTTACAGACTGAGACAATGAAAGAAAAAGCTGTTTTA c.1260
V L F K K A Q E L Q T E T M K E K A V L p.420
. . . . . . g.36289
TCAGAAATTGAAGGAACTCGTTCCTCTCTGAAACATCTCAACCATCAGTTACAAAAACTG c.1320
S E I E G T R S S L K H L N H Q L Q K L p.440
. . . . | 11 . . g.37270
GATTTTGAAACCTTGAAGCAGCAAGAAATTATGTACAGCCAG | GATTTTCACATTCAACAA c.1380
D F E T L K Q Q E I M Y S Q | D F H I Q Q p.460
. . . . . . g.37330
GTGGAACGGAGAATGTCACGGTTAAAGGGAGAAATTAATTCAGAAGAAAAACAAGCGCTT c.1440
V E R R M S R L K G E I N S E E K Q A L p.480
. . . . . . g.37390
GAAGCAAAAATTGTTGAACTTAGGAAGTCTTTGGAAGAGAAAAAATCTACATGTGGCCTT c.1500
E A K I V E L R K S L E E K K S T C G L p.500
. . | 12. . . . g.40271
TTGGAAACACAGATCAAGAAGCTTCAT | AATGATCTTTATTTTATCAAGAAGGCACATAGT c.1560
L E T Q I K K L H | N D L Y F I K K A H S p.520
. . . . . . g.40331
AAAAACAGTGATGAAAAACAGTCCCTTATGACCAAAATAAATGAACTAAACCTTTTCATC c.1620
K N S D E K Q S L M T K I N E L N L F I p.540
. . . . | 13 . . g.42309
GACAGATCAGAGAAAGAACTTGATAAAGCCAAAGGTTTTAAGCAG | GATTTGATGATAGAG c.1680
D R S E K E L D K A K G F K Q | D L M I E p.560
. . . . . . g.42369
GACAATCTTTTAAAACTTGAAGTTAAGCGTACTCGAGAAATGCTTCACAGTAAGGCAGAA c.1740
D N L L K L E V K R T R E M L H S K A E p.580
. . . . . . g.42429
GAAGTTCTTTCCCTAGAAAAAAGAAAACAGCAATTATACACAGCAATGGAAGAGCGAACT c.1800
E V L S L E K R K Q Q L Y T A M E E R T p.600
. . . . . . g.42489
GAAGAAATCAAGGTTCATAAAACAATGCTTGCGTCACAAATAAGATATGTTGATCAAGAA c.1860
E E I K V H K T M L A S Q I R Y V D Q E p.620
. | 14 . . . . . g.52949
CGGGAAAACATAAG | CACTGAGTTTCGCGAGCGGCTAAGTAAAATTGAGAAGCTGAAGAAT c.1920
R E N I S | T E F R E R L S K I E K L K N p.640
. . . . . . g.53009
AGATATGAAATTCTGACTGTTGTTATGCTGCCTCCTGAAGGAGAAGAGGAGAAAACACAG c.1980
R Y E I L T V V M L P P E G E E E K T Q p.660
. | 15 . . . . g.64567
GCCTATTATGTAATAAAG | GCTGCTCAAGAAAAAGAAGAACTTCAAAGGGAAGGTGACTGT c.2040
A Y Y V I K | A A Q E K E E L Q R E G D C p.680
. . . . . . g.64627
TTGGATGCCAAGATCAACAAAGCTGAAAAAGAAATCTACGCTCTAGAAAATACCCTTCAA c.2100
L D A K I N K A E K E I Y A L E N T L Q p.700
. . . . . | 16 g.65132
GTGCTGAACAGCTGTAACAACAATTATAAGCAATCTTTTAAAAAAGTGACTCCATCTA | GT c.2160
V L N S C N N N Y K Q S F K K V T P S S | p.720
. . . . . . g.65192
GATGAGTATGAGCTAAAAATTCAACTAGAAGAACAAAAAAGAGCTGTTGATGAAAAATAC c.2220
D E Y E L K I Q L E E Q K R A V D E K Y p.740
. . . . | 17 . . g.67544
AGATACAAACAAAGACAAATCAGAGAACTTCAAGAAGACATCCAG | AGCATGGAAAATACA c.2280
R Y K Q R Q I R E L Q E D I Q | S M E N T p.760
. . . . . . g.67604
TTAGATGTTATAGAACATTTGGCAAATAATGTTAAAGAAAAGTTATCAGAGAAGCAGGCT c.2340
L D V I E H L A N N V K E K L S E K Q A p.780
. . . . . . g.67664
TATTCATTTCAACTAAGTAAAGAAACGGAGGAGCAGAAGCCAAAATTAGAAAGAGTGACC c.2400
Y S F Q L S K E T E E Q K P K L E R V T p.800
| 18 . . . . . . g.67854
AAACAG | TGTGCAAAACTCACAAAGGAAATCCGTCTTTTGAAAGACACAAAAGATGAAACA c.2460
K Q | C A K L T K E I R L L K D T K D E T p.820
. . . . . . g.67914
ATGGAAGAACAAGACATCAAACTTCGTGAAATGAAACAGTTTCACAAAGTTATTGATGAA c.2520
M E E Q D I K L R E M K Q F H K V I D E p.840
. . . . . . g.67974
ATGTTAGTTGATATCATAGAAGAAAATACTGAGATCCGTATTATCCTTCAAACATACTTT c.2580
M L V D I I E E N T E I R I I L Q T Y F p.860
| 19 . . . . . . g.68186
CAACAG | AGTGGGTTAGAACTACCTACAGCTAGCACAAAAGGCAGTCGTCAGAGCTCTAGA c.2640
Q Q | S G L E L P T A S T K G S R Q S S R p.880
. . | 20 . . . g.69449
TCTCCTTCACATACTTCACTATCAGCAAG | GTCATCTAGGAGTACAAGTACATCTACTTCT c.2700
S P S H T S L S A R | S S R S T S T S T S p.900
. . . . . . g.69509
CAGTCTTCAATTAAAGTACTGGAGCTTAAATTCCCGGCCTCCTCTTCACTAGTAGGCAGC c.2760
Q S S I K V L E L K F P A S S S L V G S p.920
. . . . . . g.69569
CCTTCTAGGCCATCTAGTGCTAGTAGTAGCTCTAGTAATGTTAAGAGCAAAAAGAGCAGC c.2820
P S R P S S A S S S S S N V K S K K S S p.940
g.69575
AAATAA c.2826
K X p.941
. . . . . . g.69635
acattttaatctcttctgaaaaagttgtaaacacaaaaacaaaaatatactttaaaatac c.*60
. . . . . . g.69695
aaaacgacccaacacattttatctagtggaaagtgtaaaaacttagtggtaagtgtaaaa c.*120
. . . . . . g.69755
actgatagttttaaaaaaaaaggaacgttctcattttctctactgttttcttcatactga c.*180
. . . . . . g.69815
agaaattaatagcagattcttgacaaggctacatgttatacaagcataggaaaaatgctg c.*240
. . . . . . g.69875
tatttcactgtaattctgatgttcgtagtgttagaaaatagtttgcttcattatttcacg c.*300
. . . . . . g.69935
aaactacactcacttctaatgtaacaatctttcaagaagaaatttctaaagatttactgt c.*360
. . . . . . g.69995
actattatgagcgtattgcaatgtgaaaatctcatttaccctacaagacaccaaaattag c.*420
. . . . . . g.70055
gttttctttattcaaagtaactatttctcagacttttggggagaaaaattgttaaaggca c.*480
. . . . . . g.70115
gtttcttcttttgctataatttttaaccaaaaaatagcatcaacccctacccaccccacc c.*540
. . . . . . g.70175
cccccaaaaaaaaaccggtaagagaaacactgtatatcaattttaaaatgcagcataaat c.*600
. . . . . . g.70235
ttagaaaaatcacttctgaccttgaaataaatcacttctgaccttgaaataaacgcatta c.*660
. . . . . . g.70295
aagatttgctttcagatacagccaaccaagtataaacaattttgaaattttcttgattta c.*720
. . . . . . g.70355
ataaacgatttaatgaaagctaggtatgacttgatttgcaatagaaatttcatttacagt c.*780
. . . . . . g.70415
tggaggtagactgccaaatgtagtagtttttccagttaacacttcattataacatgtgcc c.*840
. . . . . . g.70475
caacactttgtactcttggaatagagtgtggaatattataaaactggattttaaataaat c.*900
. g.70488
gtattagaattca c.*913
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build beta-07
©2004-2012 Leiden University Medical Center