(used for variant description)
(last modified June 6, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000218.2 in the KCNQ1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering KCNQ1 transcript NM_000218.2.
(upstream sequence)
. . . . g.5048
gcggcggggctggcagcagtggctgcccgcactgcgcccgggcgctcg c.-61
. . . . . . g.5108
ccttcgctgcagctcccggtgccgccgctcgggccggccccccggcaggccctcctcgtt c.-1
. . . . . . g.5168
ATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTG c.60
M A A A S S P P R A E R K R W G W G R L p.20
. . . . . . g.5228
CCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTG c.120
P G A R R G S A G L A K K C P F S L E L p.40
. . . . . . g.5288
GCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGT c.180
A E G G P A G G A L Y A P I A P G A P G p.60
. . . . . . g.5348
CCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGC c.240
P A P P A S P A A P A A P P V A S D L G p.80
. . . . . . g.5408
CCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTG c.300
P R P P V S L D P R V S I Y S T R R P V p.100
. . . . . . g.5468
TTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGG c.360
L A R T H V Q G R V Y N F L E R P T G W p.120
. . | 02 . . . . g.87971
AAATGCTTCGTTTACCACTTCGCCGT | CTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGC c.420
K C F V Y H F A V | F L I V L V C L I F S p.140
. . . . . | 03. g.130640
GTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATG | GAG c.480
V L S T I E Q Y A A L A T G T L F W M | E p.160
. . . . . . g.130700
ATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGC c.540
I V L V V F F G T E Y V V R L W S A G C p.180
. . . . . . g.130760
CGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATC c.600
R S K Y V G L W G R L R F A R K P I S I p.200
| 04 . . . . . . g.131390
ATCG | ACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAG c.660
I D | L I V V V A S M V V L C V G S K G Q p.220
. . | 05 . . . . g.132059
GTGTTTGCCACGTCGGCCATCAG | GGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACAC c.720
V F A T S A I R | G I R F L Q I L R M L H p.240
. . . . . . g.132119
GTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAG c.780
V D R Q G G T W R L L G S V V F I H R Q p.260
| 06 . . . . . . g.132915
| GAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTG c.840
| E L I T T L Y I G F L G L I F S S Y F V p.280
. . . . . . g.132975
TACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCA c.900
Y L A E K D A V N E S G R V E F G S Y A p.300
. . | 07 . . . . g.143483
GATGCGCTGTGGTGGGGGGTG | GTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCC c.960
D A L W W G V | V T V T T I G Y G D K V P p.320
. . . . . . g.143543
CAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTT c.1020
Q T W V G K T I A S C F S V F A I S F F p.340
. | 08 . . . . . g.145269
GCGCTCCCAGCG | GGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGG c.1080
A L P A | G I L G S G F A L K V Q Q K Q R p.360
. . . . | 09 . g.147591
CAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAG | ACCGCATGGAGG c.1140
Q K H F N R Q I P A A A S L I Q | T A W R p.380
. . . . . . g.147651
TGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCC c.1200
C Y A A E N P D S S T W K I Y I R K A P p.400
. . . . . | 10 . g.148731
CGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTG | GTAAAGAAA c.1260
R S H T L L S P S P K P K K S V V | V K K p.420
. . . . . . g.148791
AAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTC c.1320
K K F K L D K D N G V T P G E K M L T V p.440
. . . . . . g.148851
CCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGC c.1380
P H I T C D P P E E R R L D H F S V D G p.460
. | 11 . . . . . g.222017
TATGACAGTTCTG | TAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATG c.1440
Y D S S V | R K S P T L L E V S M P H F M p.480
. . . . . . g.222077
AGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATC c.1500
R T N S F A E D L D L E G E T L L T P I p.500
. | 12 . . . . . g.328899
ACCCACATCTCACA | GCTGCGGGAACACCATCGGGCCACCATTAAGGTCATTCGACGCATG c.1560
T H I S Q | L R E H H R A T I K V I R R M p.520
. . . | 13 . . . g.335999
CAGTACTTTGTGGCCAAGAAGAAATTCCAG | CAAGCGCGGAAGCCTTACGATGTGCGGGAC c.1620
Q Y F V A K K K F Q | Q A R K P Y D V R D p.540
. . . . . . g.336059
GTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAG c.1680
V I E Q Y S Q G H L N L M V R I K E L Q p.560
| 14 . . . . . | 15 . g.337993
AGGAG | GCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAG | AAAAGAGC c.1740
R R | L D Q S I G K P S L F I S V S E | K S p.580
. . . . . | 16 . g.407782
AAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAG | GTGACG c.1800
K D R G S N T I G A R L N R V E D K | V T p.600
. . . . . . g.407842
CAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCAC c.1860
Q L D Q R L A L I T D M L H Q L L S L H p.620
. . . . . . g.407902
GGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAG c.1920
G G S T P G S G G P P R E G G A H I T Q p.640
. . . . . . g.407962
CCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCC c.1980
P C G S G G S V D P E L F L P S N T L P p.660
. . . . . g.408013
ACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGA c.2031
T Y E Q L T V P R R G P D E G S X p.676
. . . . . . g.408073
ggaggggatggggctgggggatgggcctgagtgagaggggaggccaagagtggccccacc c.*60
. . . . . . g.408133
tggccctctctgaaggaggccacctcctaaaaggcccagagagaagagccccactctcag c.*120
. . . . . . g.408193
aggccccaataccccatggaccatgctgtctggcacagcctgcacttgggggctcagcaa c.*180
. . . . . . g.408253
ggccacctcttcctggccggtgtgggggccccgtctcaggtctgagttgttaccccaagc c.*240
. . . . . . g.408313
gccctggcccccacatggtgatgttgacatcactggcatggtggttgggacccagtggca c.*300
. . . . . . g.408373
gggcacagggcctggcccatgtatggccaggaagtagcacaggctgagtgcaggcccacc c.*360
. . . . . . g.408433
ctgcttggcccagggggcttcctgaggggagacagagcaacccctggaccccagcctcaa c.*420
. . . . . . g.408493
atccaggaccctgccaggcacaggcagggcaggaccagcccacgctgactacagggccgc c.*480
. . . . . . g.408553
cggcaataaaagcccaggagcccatttggagggcctgggcctggctccctcactctcagg c.*540
. . . . . . g.408613
aaatgctgacccatgggcaggagactgtggagactgctcctgagcccccagcttccagca c.*600
. . . . . . g.408673
ggagggacagtctcaccatttccccagggcacgtggttgagtggggggaacgcccacttc c.*660
. . . . . . g.408733
cctgggttagactgccagctcttcctagctggagaggagccctgcctctccgcccctgag c.*720
. . . . . . g.408793
cccactgtgcgtggggctcccgcctccaacccctcgcccagtcccagcagccagccaaac c.*780
. . . . . . g.408853
acacagaaggggactgccacctccccttgccagctgctgagccgcagagaagtgacggtt c.*840
. . . . . . g.408913
cctacacaggacaggggttccttctgggcattacatcgcatagaaatcaataatttgtgg c.*900
. . . . . . g.408973
tgatttggatctgtgttttaatgagtttcacagtgtgattttgattattaattgtgcaag c.*960
. . . . . . g.409033
cttttcctaataaacgtggagaatcacaggctgggctgggcactgctctcaccttggttc c.*1020
. . . . . . g.409093
ctggggcatccatggggtctctcacagacaggacccctgcagttcccctggaagcagtgc c.*1080
. . g.409120
ccaggtggctgtggaataggaacgcta c.*1107
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 10b
©2004-2014 Leiden University Medical Center