(used for variant description)
(last modified September 2, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_172107.2 in the KCNQ2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009004.1, covering KCNQ2 transcript NM_172107.2.
(upstream sequence)
. . . . . g.5057
cgcggagcgaggtggccgcagcgtctccgcgcgcggcccaagcccggcaggagtgcg c.-121
. . . . . . g.5117
gaaccgccgcctcggccatgcggctcccggccggggggcctgggctggggcccgcgccgc c.-61
. . . . . . g.5177
cccccgcgctccgcccccgctgagcctgagcccgacccggggcgcctcccgccaggcacc c.-1
. . . . . . g.5237
ATGGTGCAGAAGTCGCGCAACGGCGGCGTATACCCCGGCCCGAGCGGGGAGAAGAAGCTG c.60
M V Q K S R N G G V Y P G P S G E K K L p.20
. . . . . . g.5297
AAGGTGGGCTTCGTGGGGCTGGACCCCGGCGCGCCCGACTCCACCCGGGACGGGGCGCTG c.120
K V G F V G L D P G A P D S T R D G A L p.40
. . . . . . g.5357
CTGATCGCCGGCTCCGAGGCCCCCAAGCGCGGCAGCATCCTCAGCAAACCTCGCGCGGGC c.180
L I A G S E A P K R G S I L S K P R A G p.60
. . . . . . g.5417
GGCGCGGGCGCCGGGAAGCCCCCCAAGCGCAACGCCTTCTACCGCAAGCTGCAGAATTTC c.240
G A G A G K P P K R N A F Y R K L Q N F p.80
. . . . . | 02 . g.30807
CTCTACAACGTGCTGGAGCGGCCGCGCGGCTGGGCGTTCATCTACCACGCCTACGT | GTTC c.300
L Y N V L E R P R G W A F I Y H A Y V | F p.100
. . . . . . g.30867
CTCCTGGTTTTCTCCTGCCTCGTGCTGTCTGTGTTTTCCACCATCAAGGAGTATGAGAAG c.360
L L V F S C L V L S V F S T I K E Y E K p.120
. . | 03. . . . g.32309
AGCTCGGAGGGGGCCCTCTACATCCTG | GAAATCGTGACTATCGTGGTGTTTGGCGTGGAG c.420
S S E G A L Y I L | E I V T I V V F G V E p.140
. . . . . . g.32369
TACTTCGTGCGGATCTGGGCCGCAGGCTGCTGCTGCCGGTACCGTGGCTGGAGGGGGCGG c.480
Y F V R I W A A G C C C R Y R G W R G R p.160
. . . | 04 . . . g.32832
CTCAAGTTTGCCCGGAAACCGTTCTGTGTGATTG | ACATCATGGTGCTCATCGCCTCCATT c.540
L K F A R K P F C V I D | I M V L I A S I p.180
. . . . . . g.32892
GCGGTGCTGGCCGCCGGCTCCCAGGGCAACGTCTTTGCCACATCTGCGCTCCGGAGCCTG c.600
A V L A A G S Q G N V F A T S A L R S L p.200
. . . . . . g.32952
CGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTG c.660
R F L Q I L R M I R M D R R G G T W K L p.220
. . . | 05 . . . g.35139
CTGGGCTCTGTGGTCTATGCCCACAGCAAG | GAGCTGGTCACTGCCTGGTACATCGGCTTC c.720
L G S V V Y A H S K | E L V T A W Y I G F p.240
. . . . . . g.35199
CTTTGTCTCATCCTGGCCTCGTTCCTGGTGTACTTGGCAGAGAAGGGGGAGAACGACCAC c.780
L C L I L A S F L V Y L A E K G E N D H p.260
. . . | 06 . . . g.37956
TTTGACACCTACGCGGATGCACTCTGGTGGGGCCTG | ATCACGCTGACCACCATTGGCTAC c.840
F D T Y A D A L W W G L | I T L T T I G Y p.280
. . . . . . g.38016
GGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCTTGCGGCAACCTTCACCCTCATC c.900
G D K Y P Q T W N G R L L A A T F T L I p.300
. . | 07. . . . g.38953
GGTGTCTCCTTCTTCGCGCTGCCTGCA | GGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTT c.960
G V S F F A L P A | G I L G S G F A L K V p.320
. . . . . . g.39013
CAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATC c.1020
Q E Q H R Q K H F E K R R N P A A G L I p.340
| 08 . . . . . . g.43794
CAG | TCGGCCTGGAGATTCTACGCCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGG c.1080
Q | S A W R F Y A T N L S R T D L H S T W p.360
. . . | 09 . . g.46293
CAGTACTACGAGCGAACGGTCACCGTGCCCATGTACAG | TTCGCAAACTCAAACCTACGGG c.1140
Q Y Y E R T V T V P M Y S | S Q T Q T Y G p.380
| 10 . . . . . g.49257
GCCTCCAG | ACTTATCCCCCCGCTGAACCAGCTGGAGCTGCTGAGGAACCTCAAGAGTAAA c.1200
A S R | L I P P L N Q L E L L R N L K S K p.400
. | 11. . . | 12. . g.57981
TCTGGACTCGCTTTCAG | GAAGGACCCCCCGCCGGAGCCGTCTCCAAG | TAAAGGCAGCCCG c.1260
S G L A F R | K D P P P E P S P S | K G S P p.420
. . . . | 13 . . g.62533
TGCAGAGGGCCCCTGTGTGGATGCTGCCCCGGACGCTCTAG | CCAGAAGGTCAGTTTGAAA c.1320
C R G P L C G C C P G R S S | Q K V S L K p.440
. . . . . . g.62593
GATCGTGTCTTCTCCAGCCCCCGAGGCGTGGCTGCCAAGGGGAAGGGGTCCCCGCAGGCC c.1380
D R V F S S P R G V A A K G K G S P Q A p.460
. . . . . . g.62653
CAGACTGTGAGGCGGTCACCCAGCGCCGACCAGAGCCTCGAGGACAGCCCCAGCAAGGTG c.1440
Q T V R R S P S A D Q S L E D S P S K V p.480
. . . . . . g.62713
CCCAAGAGCTGGAGCTTCGGGGACCGCAGCCGGGCACGCCAGGCTTTCCGCATCAAGGGT c.1500
P K S W S F G D R S R A R Q A F R I K G p.500
. . | 14 . . . . g.63482
GCCGCGTCACGGCAGAACTCAGAAG | AAGCAAGCCTCCCCGGAGAGGACATTGTGGATGAC c.1560
A A S R Q N S E E | A S L P G E D I V D D p.520
. . . . . . g.63542
AAGAGCTGCCCCTGCGAGTTTGTGACCGAGGACCTGACCCCGGGCCTCAAAGTCAGCATC c.1620
K S C P C E F V T E D L T P G L K V S I p.540
. | 15 . . . . . g.64108
AGAGCCGTGTG | TGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAAGGAGAGCCTGCGG c.1680
R A V C | V M R F L V S K R K F K E S L R p.560
. . . . . . g.64168
CCCTACGACGTGATGGACGTCATCGAGCAGTACTCAGCCGGCCACCTGGACATGCTGTCC c.1740
P Y D V M D V I E Q Y S A G H L D M L S p.580
. . | 16 . . . . g.69141
CGAATTAAGAGCCTGCAGTCCAG | AGTGGACCAGATCGTGGGGCGGGGCCCAGCGATCACG c.1800
R I K S L Q S R | V D Q I V G R G P A I T p.600
. . . . . . g.69201
GACAAGGACCGCACCAAGGGCCCGGCCGAGGCGGAGCTGCCCGAGGACCCCAGCATGATG c.1860
D K D R T K G P A E A E L P E D P S M M p.620
. . | 17. . . . g.70298
GGACGGCTCGGGAAGGTGGAGAAGCAG | GTCTTGTCCATGGAGAAGAAGCTGGACTTCCTG c.1920
G R L G K V E K Q | V L S M E K K L D F L p.640
. . . . . . g.70358
GTGAATATCTACATGCAGCGGATGGGCATCCCCCCGACAGAGACCGAGGCCTACTTTGGG c.1980
V N I Y M Q R M G I P P T E T E A Y F G p.660
. . . . . . g.70418
GCCAAAGAGCCGGAGCCGGCGCCGCCGTACCACAGCCCGGAAGACAGCCGGGAGCATGTC c.2040
A K E P E P A P P Y H S P E D S R E H V p.680
. . . . . . g.70478
GACAGGCACGGCTGCATTGTCAAGATCGTGCGCTCCAGCAGCTCCACGGGCCAGAAGAAC c.2100
D R H G C I V K I V R S S S S T G Q K N p.700
. . . . . . g.70538
TTCTCGGCGCCCCCGGCCGCGCCCCCTGTCCAGTGTCCGCCCTCCACCTCCTGGCAGCCA c.2160
F S A P P A A P P V Q C P P S T S W Q P p.720
. . . . . . g.70598
CAGAGCCACCCGCGCCAGGGCCACGGCACCTCCCCCGTGGGGGACCACGGCTCCCTGGTG c.2220
Q S H P R Q G H G T S P V G D H G S L V p.740
. . . . . . g.70658
CGCATCCCGCCGCCGCCTGCCCACGAGCGGTCGCTGTCCGCCTACGGCGGGGGCAACCGC c.2280
R I P P P P A H E R S L S A Y G G G N R p.760
. . . . . . g.70718
GCCAGCATGGAGTTCCTGCGGCAGGAGGACACCCCGGGCTGCAGGCCCCCCGAGGGGAAC c.2340
A S M E F L R Q E D T P G C R P P E G N p.780
. . . . . . g.70778
CTGCGGGACAGCGACACGTCCATCTCCATCCCGTCCGTGGACCACGAGGAGCTGGAGCGT c.2400
L R D S D T S I S I P S V D H E E L E R p.800
. . . . . . g.70838
TCCTTCAGCGGCTTCAGCATCTCCCAGTCCAAGGAGAACCTGGATGCTCTCAACAGCTGC c.2460
S F S G F S I S Q S K E N L D A L N S C p.820
. . . . . . g.70898
TACGCGGCCGTGGCGCCTTGTGCCAAAGTCAGGCCCTACATTGCGGAGGGAGAGTCAGAC c.2520
Y A A V A P C A K V R P Y I A E G E S D p.840
. . . . . . g.70958
ACCGACTCCGACCTCTGTACCCCGTGCGGGCCCCCGCCACGCTCGGCCACCGGCGAGGGT c.2580
T D S D L C T P C G P P P R S A T G E G p.860
. . . g.70997
CCCTTTGGTGACGTGGGCTGGGCCGGGCCCAGGAAGTGA c.2619
P F G D V G W A G P R K X p.872
. . . . . . g.71057
ggcggcgctgggccagtggacccgcccgcggccctcctcagcacggtgcctccgaggttt c.*60
. . . . . . g.71117
tgaggcgggaaccctctggggcccttttcttacagtaactgagtgtggcgggaagggtgg c.*120
. . . . . . g.71177
gccctggaggggcccatgtgggctgaaggatgggggctcctggcagtgaccttttacaaa c.*180
. . . . . . g.71237
agttattttccaacaggggctggagggctgggcagggccctgtggctccaggagcagcgt c.*240
. . . . . . g.71297
gcaggagcaaggctgccctgtccactctgctcagggccgcggccgacatcagcccggtgt c.*300
. . . . . . g.71357
gaggaggggcgggagtgatgacggggtgttgccagcgtggcaacaggcggggggttgtct c.*360
. . . . . . g.71417
cagccgagcccaggggaggcacaaagggcaggcctgttccctgaggacctgcgcaaaggg c.*420
. . . g.71452
cgggcctgtttggtgaggacctgcggccttgggtc c.*455
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 07
©2004-2013 Leiden University Medical Center