(used for mutation description)
(last modified March 2, 2012)
This file was created to facilitate the description of sequence variants in the GK gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008178.1, covering GK transcript variant-4 (NM_001205019.1). The sequence was taken from NG_008178.1, covering GK transcript variant 3 , extended with an exon 9 sequence from transcript variant 1 (NM_203391.2). Exons 9 and 20 are alternatively spliced, exon 9 missing in transcript variant-3 (NM_001128127.2), exon 20 missing in variant-1 (NM_203391.3) and both missing in variant-2 (NM_000167.5).
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . g.5059
gggccggaggggcggggtgagaaggctgcgcgcgggtaaaggggccgcctcgagcgcgg c.-121
. . . . . . g.5119
tccgagcgttcagcggacgcgcgcggcctcgatctctggactcgtcacctgcccctcccc c.-61
. . . . . . g.5179
ctcccgccgccgtcacccaggaaaccggccgcaatcgccggccgacctgaagctggtttc c.-1
. . . . . . g.5239
ATGGCAGCCTCAAAGAAGGCAGTTTTGGGGCCATTGGTGGGGGCGGTGGACCAGGGCACC c.60
M A A S K K A V L G P L V G A V D Q G T p.20
. | 02 . . . . g.17194
AGTTCGACGCGCTTTTTG | GTTTTCAATTCAAAAACAGCTGAACTACTTAGTCATCATCAA c.120
S S T R F L | V F N S K T A E L L S H H Q p.40
. . . | 03 . . . g.19681
GTAGAAATAAAACAAGAGTTCCCAAGAGAAGG | ATGGGTGGAACAGGACCCTAAGGAAATT c.180
V E I K Q E F P R E G | W V E Q D P K E I p.60
. . . . . . g.19741
CTACATTCTGTCTATGAGTGTATAGAGAAAACATGTGAGAAACTTGGACAGCTCAATATT c.240
L H S V Y E C I E K T C E K L G Q L N I p.80
. | 04 . . . . g.29057
GATATTTCCAACATAAAAG | CTATTGGTGTCAGCAACCAGAGGGAAACCACTGTAGTCTGG c.300
D I S N I K A | I G V S N Q R E T T V V W p.100
. . . | 05. . . g.42787
GACAAGATAACTGGAGAGCCTCTCTACAATGCTGTGG | TGTGGCTTGATCTAAGAACCCAG c.360
D K I T G E P L Y N A V V | W L D L R T Q p.120
. . . . . | 06 . g.46047
TCTACCGTTGAGAGTCTTAGTAAAAGAATTCCAGGAAATAATAACTTTGTCAAG | TCCAAG c.420
S T V E S L S K R I P G N N N F V K | S K p.140
. . . . . . g.46107
ACAGGCCTTCCACTTAGCACTTACTTCAGTGCAGTGAAACTTCGTTGGCTCCTTGACAAT c.480
T G L P L S T Y F S A V K L R W L L D N p.160
. . . . . . g.46167
GTGAGAAAAGTTCAAAAGGCCGTTGAAGAAAAACGAGCTCTTTTTGGGACTATTGATTCA c.540
V R K V Q K A V E E K R A L F G T I D S p.180
. | 07 . . . . . g.47731
TGGCTTATTTGG | AGTTTGACAGGAGGAGTCAATGGAGGTGTCCACTGTACAGATGTAACA c.600
W L I W | S L T G G V N G G V H C T D V T p.200
. . . . . . g.47791
AATGCAAGTAGGACTATGCTTTTCAACATTCATTCTTTGGAATGGGATAAACAACTCTGC c.660
N A S R T M L F N I H S L E W D K Q L C p.220
| 08 . . . . . . g.48316
GA | ATTTTTTGGAATTCCAATGGAAATTCTTCCAAATGTCCGGAGTTCTTCTGAGATCTAT c.720
E | F F G I P M E I L P N V R S S S E I Y p.240
| 09 . | 10. . . . g.52088
GGCCTAATG | AAAATCTCTCATAGCGTG | AAAGCTGGGGCCTTGGAAGGTGTGCCAATATCT c.780
G L M | K I S H S V | K A G A L E G V P I S p.260
^ alternatively spliced exon
| 11 . . . . . . g.52536
GGG | TGTTTAGGGGACCAGTCTGCTGCATTGGTGGGACAAATGTGCTTCCAGATTGGACAA c.840
G | C L G D Q S A A L V G Q M C F Q I G Q p.280
. | 12 . . . . | 13 . g.59701
GCCAAAAATAC | GTATGGAACAGGATGTTTCTTACTATGTAATACAGGCCATAAG | TGTGTA c.900
A K N T | Y G T G C F L L C N T G H K | C V p.300
. . . . . . g.59761
TTTTCTGATCATGGCCTTCTCACCACAGTGGCTTACAAACTTGGCAGAGACAAACCAGTA c.960
F S D H G L L T T V A Y K L G R D K P V p.320
. | 14 . . . . . g.70224
TATTATGCTTTGGAA | GGTTCTGTAGCTATAGCTGGTGCTGTTATTCGCTGGCTAAGAGAC c.1020
Y Y A L E | G S V A I A G A V I R W L R D p.340
. . . | 15 . . . g.71086
AATCTTGGAATTATAAAGACCTCAGAAGAAATTG | AAAAACTTGCTAAAGAAGTAGGTACT c.1080
N L G I I K T S E E I E | K L A K E V G T p.360
. . . . . . g.71146
TCTTATGGCTGCTACTTCGTCCCAGCATTTTCGGGGTTATATGCACCTTATTGGGAGCCC c.1140
S Y G C Y F V P A F S G L Y A P Y W E P p.380
. | 16 . . . . . g.71701
AGCGCAAGAGG | GATAATCTGTGGACTCACTCAGTTCACCAATAAATGCCATATTGCTTTT c.1200
S A R G | I I C G L T Q F T N K C H I A F p.400
. . . | 17 . . . g.72286
GCTGCATTAGAAGCTGTTTGTTTCCAAACTCGAGAG | ATTTTGGATGCCATGAATCGAGAC c.1260
A A L E A V C F Q T R E | I L D A M N R D p.420
. . . . . . g.72346
TGTGGAATTCCACTCAGTCATTTGCAGGTAGATGGAGGAATGACCAGCAACAAAATTCTT c.1320
C G I P L S H L Q V D G G M T S N K I L p.440
. . . | 18. . . g.72516
ATGCAGCTACAAGCAGACATTCTGTATATACCAGTAG | TGAAGCCCTCAATGCCCGAAACC c.1380
M Q L Q A D I L Y I P V V | K P S M P E T p.460
. . . . . . g.72576
ACTGCACTGGGTGCGGCTATGGCGGCAGGGGCTGCAGAAGGAGTCGGCGTATGGAGTCTC c.1440
T A L G A A M A A G A A E G V G V W S L p.480
. . . . . . g.72636
GAACCCGAGGATTTGTCTGCCGTCACGATGGAGCGGTTTGAACCTCAGATTAATGCGGAG c.1500
E P E D L S A V T M E R F E P Q I N A E p.500
| 19 . . . . . . g.75801
G | AAAGTGAAATTCGTTATTCTACATGGAAGAAAGCTGTGATGAAGTCAATGGGTTGGGTT c.1560
E | S E I R Y S T W K K A V M K S M G W V p.520
. . | 20 . . . . g.79145
ACAACTCAATCTCCAGAAAGTG | GTGACCCTAGTATCTTCTGTAGTCTGCCCTTGGGCTTT c.1620
T T Q S P E S G | D P S I F C S L P L G F p.540
^ alternatively spliced exon
. . . . | 21 . g.80384
TTTATAGTGAGTAGCATGGTAATGTTAATCGGAGCAAGGTACATCTCAG | GTATTCCATAA c.1680
F I V S S M V M L I G A R Y I S G | I P X p.559
. . . . . . g.80444
aacctaccaactcatggattcccaagatgtgagctttttacataatgaaagaacccagca c.*60
. . . . . . g.80504
attctgtctcttaatgcaatgacactattcatagactttgattttatttataagccactt c.*120
. . . . . . g.80564
gctgcatgaccctccaagtagacctgtggcttaaaataaagaaaatgcagcaaaaagaat c.*180
. . . . . . g.80624
gctatagaaatatttggtggttttttttttttttaaacatccacagttaaggttgggcca c.*240
. . . . . . g.80684
gctacctttggggctgaccccctccattgccataacatcctgctccattccctctaagat c.*300
. . . . . . g.80744
gtaggaagaattcggatccttaccattggaatcttccatcgaacatactcaaacactttt c.*360
. . . . . . g.80804
ggaccaggatttgagtctctgcatgacatatacttgattaaaaggttattactaacctgt c.*420
. . . . . . g.80864
taaaaatcagcagctctttgcttttaacagacaccctaaaagtcttcttttctacatagt c.*480
. . . . . . g.80924
tgaagacagcaacatcttcactgaatgtttgaatagaaacctctactaaattattaaaat c.*540
. . . . . . g.80984
agacatttagtgttctcacagcttggatatttttctgaaaagttatttgccaaaactgaa c.*600
. . . . . . g.81044
atccttcagatgttttccatggtcccactaattataatgactttctgtctggatcttata c.*660
. . . . . . g.81104
ggaaaagatactttcttttttcttccatctttcctttttatattttttactttgtatgta c.*720
. . . . . . g.81164
taacatacatgcctatatattttatacactgagggtagcccatttataaattaagagcac c.*780
. . . . . . g.81224
attatattcagaaggttctaacagggctggtcttaagtgaaccactgtgtatataaatat c.*840
. . . . . . g.81284
gttggaaaacagctgtatacatttttgggcaacggttatgcataatatttaccaggagaa c.*900
. . . . . . g.81344
tttttttcttaacaagccaacatttaaaatttatgttttatgtcaataaaagaaaatata c.*960
. . . . . . g.81404
ctttattgtgacttcaactatatttcttatcccttacatttttatttaattgtcttagct c.*1020
. . . . . . g.81464
taaaaaaagaagaaactgtggaatactacagtaaatattgttttcaaacacaagcaataa c.*1080
. . . . . . g.81524
ttcaaatagttatttttcttttgaattaattttagacatattttggatcctattgagggg c.*1140
. . . . . . g.81584
ataagaggatgtcaaaaaagttaaatacctaagtagaaaaaaatatagaaataaagccaa c.*1200
. . . . . . g.81644
gaatctctttcagttcaaatgttatcaattgttaataagaaattgctatctgggatgaca c.*1260
. . . . . . g.81704
gaattacctctgcttagtatctcattataactgaaagaaggtttatcattacaaatacct c.*1320
. . . . . . g.81764
tccaatgaaaccaagaatttctcaaaatatttaatgtcacatattataagaagttaccta c.*1380
. . . . . . g.81824
atcctgcttcttaacatcaatttttaaaaatatcttaaaattactttgttttgtagtaaa c.*1440
. . . . . . g.81884
cagtgaagaaaagattgcctcctaattatttttttcaatgagtgctgaatgggaaaacat c.*1500
. . . . . . g.81944
ttatatcttactataaaaggttctgttttgtttggaatcaatggtagctttattgactgt c.*1560
. . . . . . g.82004
tctgattgtgctgtttctaatttattgaatctgctaggttttattgatgcagccaccact c.*1620
. . . . . . g.82064
taagtgacataaatattatagaaaggtactgtgaaatgatcactttgtggcaggggtact c.*1680
. . . . . . g.82124
tttaaacataaatgtttctacaaaagtaggttgagttcattgtaaataattgtgaaagcc c.*1740
. . . . . . g.82184
actgttcaaataattttaagattacattaatttttctataaattggaagatttataaatg c.*1800
. . . . . . g.82244
tttgaaattgtacacattgatatttaatgacaaatttacttaaaataaattgaccccttg c.*1860
. . . . . . g.82304
ttcttacttgcatttctcatttacagactagaacttagttgaaagttaaattaagaaaga c.*1920
. . . . . . g.82364
tgtttcagaggccgggcacggtggctgacgcctgtaatcccagcactttgggaggccgag c.*1980
. . . . . . g.82424
gtgggcagatcacctgaggtcaggagttcgggactagcctaaccgacatggagaaaccct c.*2040
. . . . . . g.82484
atctctactaaaaaaaaaaaaagatgtttcaggacatgtgaaacttggctgttagcgctt c.*2100
. . . . . . g.82544
gatagggcacactctgaagagttaaccaacagccaaagaagtaatttctgtaatgatgaa c.*2160
. . . . . . g.82604
cactttaatcattctattagaagaaactacactgtcccatctcagcatttgcaaaaaata c.*2220
. . . . . . g.82664
atgttggtaaggtcagcagccattatcaacagggccttgcatggctaactttgaccacca c.*2280
. . . . . . g.82724
tttttctctcaacctgataggcaacacctcaatcctttgttctccaactaatcagtaaaa c.*2340
. . . . . . g.82784
taagtaatgcatctctgcttctgtaatgatatcttagaatttttagtatgtttcttttga c.*2400
. . . . . . g.82844
agtgcccaaagcccaattctttgggatatcttttgggtatctggtatcatgtgggagtga c.*2460
. . . . . . g.82904
agaaagaaagtttttggagaaaccaacaaatgaaagctgtgatagcacagaagctaatgg c.*2520
. . . . . . g.82964
cattgacagtggagtaggtagtatttaatctgtagtgtttacaacatagtagatagaagt c.*2580
. . . . . . g.83024
acaaaaatttttttaactataactctttaatagcttgttttatctagtaatatttaaata c.*2640
. . . . . . g.83084
atgaagtttccttgatcctttgcttttgcaacctaacaactttaataataagttcacaca c.*2700
. . g.83104
ataaacaaattagtagaaaa c.*2720
(downstream sequence)
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