(used for mutation description)
(last modified September 21, 2012)
This file was created to facilitate the description of sequence variants in the CCDC78 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032932.1, covering CCDC78 transcript NM_001031737.2.
(upstream sequence)
. . . . g.5046
agaggccttggcaacgcacttagcagtgccagtggcagcagcagcc c.-61
. . . . . . g.5106
atggggaagccgggcgtggaggcagcaccgggctcggagctggccagggttccctagcct c.-1
. . . . . . g.5166
ATGGAGCACGCAGCCACCACAGGCCCCAGGCCTGGACCTCCCTCTCGGCGGGTGGAGAAT c.60
M E H A A T T G P R P G P P S R R V E N p.20
| 02 . . . . . . g.5448
| GTTGTGCTACGAGCCAAGGACTGGCTGCCAGGAGCTCCTGGGGGCACCGCAGTGTGGGCC c.120
| V V L R A K D W L P G A P G G T A V W A p.40
. . . . . . g.5508
ACCAGCTTGGAAGCAGAGGTCCCACCAGATCTAGCGCTCAATAAGGAGCAGCAGCTGCAG c.180
T S L E A E V P P D L A L N K E Q Q L Q p.60
| 03 . . . . . . g.5653
| ATCTCCAAGGAGCTGGTCGACATTCAGATCACAACCCACCACCTACATGAGCAGCATGAG c.240
| I S K E L V D I Q I T T H H L H E Q H E p.80
. . | 04. . . . g.5926
GCTGAAATCTTCCAGCTGAAGAGTGAG | ATCCTTCGGCTGGAGAGCCGGGTACTGGAGCTG c.300
A E I F Q L K S E | I L R L E S R V L E L p.100
. . . . . . g.5986
GAGCTGCGAGGAGATGGCACCAGCCAGGGCTGTGCAGTCCCAGTGGAGTCTGACCCCAGG c.360
E L R G D G T S Q G C A V P V E S D P R p.120
. . . . . . g.6046
CATCCCCGGGCAGCAGCCCAAGAGCTCAGACACAAAGCCCAGGTGCCTGGACACTCTGAT c.420
H P R A A A Q E L R H K A Q V P G H S D p.140
. | 05 . . . . . g.6225
GACCACAGATTCCAG | GTGCAGCCCAAGAACACCATGAACCCCGAGAATGAGCAGCACAGG c.480
D H R F Q | V Q P K N T M N P E N E Q H R p.160
. | 06 . . . . . g.6376
CTGGGGAGCGGC | CTGCAGGGGGAAGTGAAGTGGGCGCTGGAGCATCAGGAGGCCCGGCAG c.540
L G S G | L Q G E V K W A L E H Q E A R Q p.180
. . | 07 . . . . g.6524
CAGGCACTGGTGACGCGTGT | GGCAACCCTGGGCCGGCAGCTGCAGGGAGCCCGAGAGGAG c.600
Q A L V T R V | A T L G R Q L Q G A R E E p.200
. . . | 08 . . g.6688
GCCAGGGCAGCCGGGCAGCGACTGGCCACACAGGCTGTG | GTGCTGTGCAGCTGCCAAGGC c.660
A R A A G Q R L A T Q A V | V L C S C Q G p.220
. . . . . . g.6748
CAGCTCCGTCAGGCAGAGGCTGAAAATGCCCGGCTGCAGCTGCAGCTCAAGAAACTGAAG c.720
Q L R Q A E A E N A R L Q L Q L K K L K p.240
. . . . | 09 . . g.6979
GATGAGTACGTCCTACGGCTGCAACACTGCGCCTGGCAGGCAGTG | GAGCACGCAGATGGT c.780
D E Y V L R L Q H C A W Q A V | E H A D G p.260
. . . . . . g.7039
GCAGGCCAAGCGCCAGCCACCACGGCCCTCCGGACATTCCTGGAGGCGACTCTGGAGGAC c.840
A G Q A P A T T A L R T F L E A T L E D p.280
. . . . . . g.7099
ATCCGGGCAGCGCACCGCAGCCGTGAGCAGCAGCTGGCCCGGGCTGCCCGCAGCTACCAC c.900
I R A A H R S R E Q Q L A R A A R S Y H p.300
. . . . . | 10 . g.7275
AAGAGGCTGGTGGATCTGAGCCGCAGGCATGAAGAGCTACTGGTTGCCTACAG | GGCACCT c.960
K R L V D L S R R H E E L L V A Y R | A P p.320
. . . . . . g.7335
GGGAACCCCCAAGCTATTTTTGACATAGCCAGCTTGGACCTGGAACCATTGCCCGTGCCC c.1020
G N P Q A I F D I A S L D L E P L P V P p.340
. . . | 11 . . . g.7564
CTGGTCACTGACTTCAGCCATCGGGAGGACCAG | CACGGCGGGCCTGGGGCACTGCTCTCA c.1080
L V T D F S H R E D Q | H G G P G A L L S p.360
. . . . . | 12 . g.8319
TCCCCAAAAAAGAGACCCGGTGGAGCCTCCCAGGGGGGAACATCAGAGCCACA | GGGCCTG c.1140
S P K K R P G G A S Q G G T S E P Q | G L p.380
. . . . . . g.8379
GACGCTGCATCCTGGGCCCAGATCCACCAGAAGCTCCGGGACTTCTCCCGCAGCACCCAG c.1200
D A A S W A Q I H Q K L R D F S R S T Q p.400
| 13 . . . . . . g.8515
| AGCTGGAACGGGAGCGGGCACAGCTGCTGGTCCGGGCCACGATGGCTGAAGAGCAACTTT c.1260
| S W N G S G H S C W S G P R W L K S N F p.420
. . . | 14. . g.8707
CTGAGCTACAGGAGTACGTGGACCAGCACCTGGGCAG | GTACAAGCACGAAATCCTGA c.1317
L S Y R S T W T S T W A G | T S T K S X p.438
. . . . . . g.8767
ggctgaggaagctggcaggtgcaggggacccctggaaagtgggggctgtgcctccagcca c.*60
. . . . . . g.8827
agccccagcatccaaggaccggcagccactaggccgtctcccaaggagcagagcagagca c.*120
. . . . . . g.8887
gagctcctcagccagcacagaaccctcccacccagccccccataaaacatgagtcaggat c.*180
g.8895
agaaccca c.*188
(downstream sequence)
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