(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the DKC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering DKC1 transcript NM_001363.3.
(upstream sequence)
. . . g.1030
agcaaatcgcattgcgcagacgaccagcgg c.-181
. . . . . . g.1090
gcgcctcggattccgcccccgggatggccccgcctcctcccgccccgcggcaaggcacgc c.-121
. . . . . . g.1150
acagggcagtgcgcgggtgggtgggtcctagcagcgcggcctgacgggaccaaggcggcg c.-61
. . . . . . g.1210
ggagtctgcggtcgttccctcggctgtggaccgggcggcacgcacgcggtgcagggtaac c.-1
. | 02 . . . . . g.3187
ATGGCGGATGCGGAAG | TAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAG c.60
M A D A E V | I I L P K K H K K K K E R K p.20
. . | 03 . . . . g.3724
TCATTGCCAGAAGAAGATGTAGCC | GAAATACAACACGCTGAAGAATTTCTTATCAAACCT c.120
S L P E E D V A | E I Q H A E E F L I K P p.40
. . . . . | 04 . g.4160
GAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAG | AATTTTGAT c.180
E S K V A K L D T S Q W P L L L K | N F D p.60
. . . . . . g.4220
AAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAG c.240
K L N V R T T H Y T P L A C G S N P L K p.80
. . | 05 . . . . g.4497
AGAGAGATTGGGGACTATATCAG | GACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCC c.300
R E I G D Y I R | T G F I N L D K P S N P p.100
. . . . . . g.4557
TCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCAC c.360
S S H E V V A W I R R I L R V E K T G H p.120
. . . . . . g.4617
AGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACT c.420
S G T L D P K V T G C L I V C I E R A T p.140
. . | 06 . . . g.5273
CGCTTGGTGAAGTCACAACAGAGTGCAG | GCAAAGAGTATGTGGGGATTGTCCGGCTGCAC c.480
R L V K S Q Q S A G | K E Y V G I V R L H p.160
. . . | 07 . . . g.5527
AATGCTATTGAAGGGGGGACCCAGCTTTCTAGG | GCCCTAGAAACTCTGACAGGTGCCTTA c.540
N A I E G G T Q L S R | A L E T L T G A L p.180
. . . . . . g.5587
TTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTAC c.600
F Q R P P L I A A V K R Q L R V R T I Y p.200
. . . . | 08 . . g.6566
GAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAG | GAATCTTTTGGGTGAGTTGT c.660
E S K M I E Y D P E R R L G | I F W V S C p.220
. . . . . . g.6626
GAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGT c.720
E A G T Y I R T L C V H L G L L L G V G p.240
. . . . . | 09 . g.7420
GGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAG | GACCACATG c.780
G Q M Q E L R R V R S G V M S E K | D H M p.260
. . . . . . g.7480
GTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGT c.840
V T M H D V L D A Q W L Y D N H K D E S p.280
. . . . . . g.7540
TACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTT c.900
Y L R R V V Y P L E K L L T S H K R L V p.300
. | 10 . . . . . g.9048
ATGAAAGACAGTGCA | GTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTT c.960
M K D S A | V N A I C Y G A K I M L P G V p.320
. . . . . . g.9108
CTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGA c.1020
L R Y E D G I E V N Q E I V V I T T K G p.340
. | 11 . . . . . g.11419
GAAGCAATCTGCATGG | CTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCAT c.1080
E A I C M A | I A L M T T A V I S T C D H p.360
. . . . . . g.11479
GGTATAGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGG c.1140
G I V A K I K R V I M E R D T Y P R K W p.380
. | 12 . . . . . g.12891
GGTTTAGGTCCAAAG | GCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAG c.1200
G L G P K | A S Q K K L M I K Q G L L D K p.400
. . . . . | 13 g.13440
CATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAG | T c.1260
H G K P T D S T P A T W K Q E Y V D Y S | p.420
. . . . . . g.13500
GAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAA c.1320
E S A K K E V V A E V V K A P Q V V A E p.440
. | 14 . . . . g.14473
GCAGCAAAAACTGCGAAG | CGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCA c.1380
A A K T A K | R K R E S E S E S D E T P P p.460
. . . . . . g.14533
GCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAA c.1440
A A P Q L I K K E K K K S K K D K K A K p.480
. . . | 15 . . . g.15067
GCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGG | GACAGTGATACCACCAAGAAGAAG c.1500
A G L E S G A E P G D G | D S D T T K K K p.500
. . . . g.15112
AAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAG c.1545
K K K K K A K E V E L V S E X p.514
. . . . . . g.15172
tgaaggccacttgaagctggaggagaaactaaagccttattgagaaaacatgttatagat c.*60
. . . . . . g.15232
ccttttgttgctgagagagtggaacataggtcctagacagggtgaagagttctggcacat c.*120
. . . . . . g.15292
tttagctgctactttgagacctcggtgatgttacctggtgtggtcatcccatcttgtcct c.*180
. . . . . . g.15352
gttttaaggatatgggtggtgaaagatgaaagaggcagagtttatcccaatgacttctct c.*240
. . . . . . g.15412
gtttgagttgggaagcctcaccttcagacccagtaactgtccgcagctgtctgctagtgg c.*300
. . . . . . g.15472
ttgtcttaacatcgtagtcctagtttgcattttttaaatcccctctgtttaaaaggtttg c.*360
. . . . . . g.15532
taaaacaaaaacaaaaaactaagtctgctcagtgaaatgctgtagaaccctaaataagtg c.*420
. . . . . . g.15592
gtagaagagtgtcactgaattttgtctctgaattcagtataactgagttttgtccatgct c.*480
. . . . . . g.15652
ggtgtctgggttataggcctgatgggcctggtagttttccatcttgttctggcctagagg c.*540
. . . . . . g.15712
tcagtcctttgcacttcctcaaagcttgtgtacagtgctcacctaaatccatctgactac c.*600
. . . . . . g.15772
ttgttcctgtgccctcttgttttaggcctcgtttacttttaaaaaatgaaattgttcatt c.*660
. . . . . . g.15832
gctgggagaagaatgttgtaatttttacttattaaagtcaacttgttaagttttttatgt c.*720
. . . . . . g.15892
attcctgttgggttttcttgttgatctcatgctagcagagcaaaaattgtaaaatatttt c.*780
. . . . g.15934
gattaaaaatctagggacctttatgtcctatttgaaatgtga c.*822
(downstream sequence)
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