(used for variant description)
(last modified November 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_004975.2 in the KCNB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041781.2, covering KCNB1 transcript NM_004975.2.
(upstream sequence)
. . . . g.5044
gtcgggatggaggtgagaagacggccgtgacgcgcgcccgcggg c.-121
. . . . . . g.5104
gccccctgcacccccagcagcccacagcgctccctgcccccctcccccgcagcagcgggc c.-61
. . . . . . g.5164
cttgccgtcgagtgacagcggcctgggggggcagggggggcgggggcggccggatcagcg c.-1
. . . . . . g.5224
ATGCCGGCGGGCATGACGAAGCATGGCTCCCGCTCCACCAGCTCGCTGCCGCCCGAGCCC c.60
M P A G M T K H G S R S T S S L P P E P p.20
. . . . . . g.5284
ATGGAGATCGTGCGCAGCAAGGCGTGCTCTCGGCGGGTCCGCCTCAACGTCGGGGGGCTG c.120
M E I V R S K A C S R R V R L N V G G L p.40
. . . . . . g.5344
GCGCACGAGGTACTCTGGCGTACCCTGGACCGCCTGCCCCGCACGCGGCTGGGCAAGCTC c.180
A H E V L W R T L D R L P R T R L G K L p.60
. . . . . . g.5404
CGCGACTGCAACACGCACGACTCGCTGCTCGAGGTGTGCGATGACTACAGCCTCGACGAC c.240
R D C N T H D S L L E V C D D Y S L D D p.80
. . . . . . g.5464
AACGAGTACTTCTTTGACCGCCACCCGGGCGCCTTCACCTCCATCCTCAACTTCTACCGC c.300
N E Y F F D R H P G A F T S I L N F Y R p.100
. . . . . . g.5524
ACTGGGCGACTGCACATGATGGAGGAGATGTGCGCGCTCAGCTTCAGCCAAGAGCTCGAC c.360
T G R L H M M E E M C A L S F S Q E L D p.120
. . . . . . g.5584
TACTGGGGCATCGACGAGATCTACCTGGAGTCCTGCTGCCAGGCCCGCTACCACCAGAAG c.420
Y W G I D E I Y L E S C C Q A R Y H Q K p.140
. . . . . . g.5644
AAAGAGCAGATGAACGAGGAGCTCAAGCGTGAGGCCGAGACCCTACGGGAGCGGGAAGGC c.480
K E Q M N E E L K R E A E T L R E R E G p.160
. . . . . . g.5704
GAGGAGTTCGATAACACGTGCTGCGCAGAGAAGAGGAAAAAACTCTGGGACCTACTGGAG c.540
E E F D N T C C A E K R K K L W D L L E p.180
. . | 02. . . . g.112685
AAGCCCAATTCCTCTGTGGCTGCCAAG | ATCCTTGCCATAATTTCCATCATGTTCATCGTC c.600
K P N S S V A A K | I L A I I S I M F I V p.200
. . . . . . g.112745
CTCTCCACCATTGCCCTGTCCCTCAACACGCTGCCTGAGCTACAGAGCCTCGATGAGTTC c.660
L S T I A L S L N T L P E L Q S L D E F p.220
. . . . . . g.112805
GGCCAGTCCACAGACAACCCCCAGCTGGCCCACGTGGAGGCCGTGTGCATCGCATGGTTC c.720
G Q S T D N P Q L A H V E A V C I A W F p.240
. . . . . . g.112865
ACCATGGAGTACCTGCTGAGGTTCCTCTCCTCGCCCAAGAAGTGGAAGTTCTTCAAGGGC c.780
T M E Y L L R F L S S P K K W K F F K G p.260
. . . . . . g.112925
CCACTCAATGCCATTGACTTGTTGGCCATTCTGCCATACTATGTCACCATTTTCCTCACC c.840
P L N A I D L L A I L P Y Y V T I F L T p.280
. . . . . . g.112985
GAATCCAACAAGAGCGTGCTGCAATTCCAGAATGTCCGCCGCGTGGTCCAGATCTTCCGC c.900
E S N K S V L Q F Q N V R R V V Q I F R p.300
. . . . . . g.113045
ATCATGCGAATTCTCCGCATCCTTAAGCTTGCACGCCACTCCACTGGCCTCCAGTCTCTG c.960
I M R I L R I L K L A R H S T G L Q S L p.320
. . . . . . g.113105
GGCTTCACTTTGCGGAGGAGCTACAATGAGTTGGGCTTGCTCATCCTCTTCCTTGCCATG c.1020
G F T L R R S Y N E L G L L I L F L A M p.340
. . . . . . g.113165
GGCATTATGATCTTCTCCAGCCTTGTCTTCTTTGCTGAGAAGGATGAGGACGACACCAAG c.1080
G I M I F S S L V F F A E K D E D D T K p.360
. . . . . . g.113225
TTCAAAAGCATCCCAGCCTCTTTCTGGTGGGCCACCATCACCATGACTACTGTTGGGTAT c.1140
F K S I P A S F W W A T I T M T T V G Y p.380
. . . . . . g.113285
GGAGACATCTACCCCAAGACTCTCCTGGGGAAAATTGTTGGGGGACTCTGCTGCATTGCA c.1200
G D I Y P K T L L G K I V G G L C C I A p.400
. . . . . . g.113345
GGAGTCCTGGTGATTGCTCTTCCCATCCCCATCATCGTCAATAACTTCTCTGAGTTCTAT c.1260
G V L V I A L P I P I I V N N F S E F Y p.420
. . . . . . g.113405
AAGGAGCAGAAGAGACAGGAGAAAGCAATCAAACGGCGAGAGGCTCTGGAGAGAGCCAAG c.1320
K E Q K R Q E K A I K R R E A L E R A K p.440
. . . . . . g.113465
AGGAATGGCAGCATCGTATCCATGAACATGAAGGATGCTTTTGCCCGGAGCATTGAGATG c.1380
R N G S I V S M N M K D A F A R S I E M p.460
. . . . . . g.113525
ATGGACATTGTGGTTGAGAAAAATGGGGAGAATATGGGTAAGAAAGACAAAGTACAAGAT c.1440
M D I V V E K N G E N M G K K D K V Q D p.480
. . . . . . g.113585
AACCACTTGTCTCCTAACAAATGGAAATGGACAAAGAGGACACTGTCTGAAACCAGCTCA c.1500
N H L S P N K W K W T K R T L S E T S S p.500
. . . . . . g.113645
AGTAAGTCCTTTGAAACCAAGGAACAGGGATCCCCTGAAAAAGCCAGATCGTCTTCTAGT c.1560
S K S F E T K E Q G S P E K A R S S S S p.520
. . . . . . g.113705
CCTCAGCACCTGAACGTTCAGCAGTTGGAAGACATGTACAATAAGATGGCCAAGACCCAA c.1620
P Q H L N V Q Q L E D M Y N K M A K T Q p.540
. . . . . . g.113765
TCCCAACCCATCCTCAATACCAAGGAGTCAGCAGCACAGAGCAAACCAAAGGAAGAACTT c.1680
S Q P I L N T K E S A A Q S K P K E E L p.560
. . . . . . g.113825
GAAATGGAGAGTATCCCCAGCCCCGTAGCCCCTCTGCCCACTCGCACAGAAGGGGTCATT c.1740
E M E S I P S P V A P L P T R T E G V I p.580
. . . . . . g.113885
GACATGCGAAGTATGTCAAGCATTGATAGTTTCATTAGCTGTGCCACAGACTTCCCTGAG c.1800
D M R S M S S I D S F I S C A T D F P E p.600
. . . . . . g.113945
GCCACCAGATTCTCCCACAGCCCTTTGACATCACTCCCCAGCAAGACTGGGGGCAGCACA c.1860
A T R F S H S P L T S L P S K T G G S T p.620
. . . . . . g.114005
GCCCCAGAAGTGGGCTGGCGGGGAGCTCTGGGTGCCAGTGGTGGTAGGTTTGTGGAGGCC c.1920
A P E V G W R G A L G A S G G R F V E A p.640
. . . . . . g.114065
AACCCCAGCCCTGATGCCAGCCAGCACTCTAGTTTCTTCATCGAGAGCCCCAAGAGTTCC c.1980
N P S P D A S Q H S S F F I E S P K S S p.660
. . . . . . g.114125
ATGAAAACTAACAACCCTTTGAAGCTCCGAGCACTTAAAGTCAACTTCATGGAGGGTGAC c.2040
M K T N N P L K L R A L K V N F M E G D p.680
. . . . . . g.114185
CCCAGTCCACTCCTCCCCGTTCTAGGGATGTACCATGACCCTCTCAGGAACCGGGGGAGT c.2100
P S P L L P V L G M Y H D P L R N R G S p.700
. . . . . . g.114245
GCTGCGGCTGCTGTCGCTGGACTGGAGTGTGCCACGCTTTTGGACAAGGCTGTGCTGAGC c.2160
A A A A V A G L E C A T L L D K A V L S p.720
. . . . . . g.114305
CCAGAGTCCTCCATCTACACCACAGCAAGTGCTAAGACACCCCCCCGGTCTCCTGAGAAA c.2220
P E S S I Y T T A S A K T P P R S P E K p.740
. . . . . . g.114365
CACACAGCAATAGCGTTCAACTTTGAGGCGGGTGTCCACCAGTACATTGACGCAGACACA c.2280
H T A I A F N F E A G V H Q Y I D A D T p.760
. . . . . . g.114425
GATGATGAGGGACAGCTGCTCTACAGTGTGGACTCCAGCCCCCCCAAAAGCCTCCCTGGG c.2340
D D E G Q L L Y S V D S S P P K S L P G p.780
. . . . . . g.114485
AGCACCAGTCCGAAGTTCAGCACGGGGACAAGATCGGAGAAAAACCACTTTGAAAGCTCC c.2400
S T S P K F S T G T R S E K N H F E S S p.800
. . . . . . g.114545
CCTTTACCCACCTCCCCTAAGTTCTTAAGGCAGAACTGTATTTACTCCACAGAAGCATTG c.2460
P L P T S P K F L R Q N C I Y S T E A L p.820
. . . . . . g.114605
ACTGGAAAAGGCCCCAGTGGTCAGGAAAAGTGCAAACTTGAGAACCACATCTCCCCTGAC c.2520
T G K G P S G Q E K C K L E N H I S P D p.840
. . . . . g.114662
GTCCGTGTGTTGCCAGGGGGAGGAGCCCATGGAAGCACACGAGATCAGAGCATCTGA c.2577
V R V L P G G G A H G S T R D Q S I X p.858
. . . . . . g.114722
actgccctgccttggaggagagacttttgggtgaggtccaaagaggagagctgttcagct c.*60
. . . . . . g.114782
tacctgccacagagcttttctgcatgaactctggaacagaaaggccctgtaaagccctca c.*120
. . . . . . g.114842
gagagaagagagactccagagaaggctccctaagaccttgagagccatgacaggtccatc c.*180
. . . . . . g.114902
agcatgaagttggccaagccatagggcacagcacctccttgtaacaactctatagccctc c.*240
. . . . . . g.114962
tttgggagatgacatgagtggaactcacagccaccactaccaccactttagacaggaccg c.*300
. . . . . . g.115022
aggccacatactccccattctctcgtggctttccatctcagcctcggagggcaacattga c.*360
. . . . . . g.115082
cagtcctcctggcttcagctagagaaggatgctggaacaagcggctggtgttgaaagagt c.*420
. . . . . . g.115142
gggttgaccaatttggtattgaatgttgcccagccacccctaggaacacctgtccatcac c.*480
. . . . . . g.115202
ctcctggatggattccactgttagacagctacagggaatgattggtcatggggaagtctc c.*540
. . . . . . g.115262
tgcgccataagccacgatcccagcgcaaaacccttactcaaatgtcttcattgacttcgg c.*600
. . . . . . g.115322
tatttcatagtacctgagattttattttgagataccatcagggtgagttgcaccacttgt c.*660
. . . . . . g.115382
actcaattctaattgccccctggcaatctgggaagggttcagaaggtgggcacccagcca c.*720
. . . . . . g.115442
acagcatgaactcagagcattgttttagggttggaggaggaacacgctttctttacatca c.*780
. . . . . . g.115502
ctagtgtagactcaaaagatatgcaagtgtcaaatatgcaaaagaaatagtttattcaaa c.*840
. . . . . . g.115562
gagactgtgtgttactgaagaacagcataaaaatatgatttttttacttgcaaaaatgaa c.*900
. . . . . . g.115622
aggaaaaaaataccacgcattgaaatgcccagttcagactgaataattcctgctgcagca c.*960
. . . . . g.115677
aggaaagtacctactataatagaaattctgttttgttttctgtggttttcaagtt c.*1015
(downstream sequence)
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