(used for variant description)
(last modified December 12, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_020822.2 in the KCNT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering KCNT1 transcript NM_020822.2.
(upstream sequence)
. g.5014
agggcaacgcgagg c.-61
. . . . . . g.5074
gaagaaggtggcggctcccactcgcttctccctcgggtcgggtccgagctgccaggccgc c.-1
. . . . . . g.5134
ATGCCACTCCCTGACGGGGCGCGGACCCCGGGGGGCGTCTGCCGGGAGGCGCGCGGCGGG c.60
M P L P D G A R T P G G V C R E A R G G p.20
. . . . . | 02 . g.17402
GGCTACACCAACCGGACCTTCGAGTTTGACGACGGCCAATGCGCCCCCAG | GCGGCCCTGC c.120
G Y T N R T F E F D D G Q C A P R | R P C p.40
. . . . . . g.17462
GCGGGGGACGGCGCGCTCCTGGACACCGCCGGCTTCAAGATGAGCGACCTGGACTCCGAG c.180
A G D G A L L D T A G F K M S D L D S E p.60
. . . . . . g.17522
GTGCTGCCCTTGCCGCCGCGCTACCGCTTCCGGGACCTGCTGCTGGGCGACCCGTCCTTC c.240
V L P L P P R Y R F R D L L L G D P S F p.80
. | 03 . . . . . g.52959
CAGAACGACGACAG | GGTCCAGGTGGAGTTCTACGTCAACGAGAACACCTTCAAGGAGCGG c.300
Q N D D R | V Q V E F Y V N E N T F K E R p.100
. . . | 04 . . . g.53783
CTCAAGCTGTTCTTCATCAAAAACCAAAGATCGA | GCCTGAGGATCCGGCTGTTCAACTTC c.360
L K L F F I K N Q R S S | L R I R L F N F p.120
. . . . . . g.53843
TCCCTGAAGCTGCTCACCTGCCTGCTCTACATTGTGCGCGTCCTGCTCGATGACCCGGCC c.420
S L K L L T C L L Y I V R V L L D D P A p.140
. | 05 . . . . . g.56798
CTGGGCATCGGATG | CTGGGGCTGCCCAAAGCAGAACTACTCCTTCAATGACTCGTCCTCC c.480
L G I G C | W G C P K Q N Y S F N D S S S p.160
. | 06 . . . . . g.57985
GAGATCAACTG | GGCTCCTATTCTGTGGGTGGAGAGAAAGATGACACTGTGGGCGATCCAG c.540
E I N W | A P I L W V E R K M T L W A I Q p.180
| 07 . . . . . . g.59748
| GTCATCGTGGCCATAATAAGCTTCCTGGAGACGATGCTTCTCATCTACCTCAGCTACAAA c.600
| V I V A I I S F L E T M L L I Y L S Y K p.200
| 08 . . . . . . g.60031
| GGCAACATCTGGGAGCAGATCTTCCGCGTGTCCTTCGTCCTGGAGATGATCAACACTCTG c.660
| G N I W E Q I F R V S F V L E M I N T L p.220
. | 09 . . . . . g.60158
CCCTTCATCATCACG | ATCTTCTGGCCGCCGCTGCGGAACCTGTTCATCCCCGTCTTTCTG c.720
P F I I T | I F W P P L R N L F I P V F L p.240
. . . | 10 . . g.61250
AACTGCTGGCTGGCCAAGCACGCGCTGGAAAACATGATT | AATGACTTCCACCGTGCCATC c.780
N C W L A K H A L E N M I | N D F H R A I p.260
. . . . . . g.61310
CTGCGGACACAGTCAGCCATGTTCAACCAGGTCCTCATCCTCTTCTGCACCCTGCTGTGC c.840
L R T Q S A M F N Q V L I L F C T L L C p.280
. | 11 . . . . . g.62540
CTCGTTTTCACGGG | GACCTGCGGCATCCAGCACCTGGAGCGGGCGGGCGAGAACCTGTCC c.900
L V F T G | T C G I Q H L E R A G E N L S p.300
. . . . . . g.62600
CTCCTGACCTCCTTCTACTTCTGCATCGTCACCTTCTCCACCGTGGGCTACGGTGACGTC c.960
L L T S F Y F C I V T F S T V G Y G D V p.320
. . . . . . g.62660
ACGCCCAAGATCTGGCCATCGCAGCTGCTGGTGGTCATCATGATCTGCGTGGCCCTCGTG c.1020
T P K I W P S Q L L V V I M I C V A L V p.340
. | 12 . . . . . g.67891
GTGCTCCCACTGCAG | TTCGAGGAGCTCGTCTACCTCTGGATGGAGCGGCAGAAGTCAGGG c.1080
V L P L Q | F E E L V Y L W M E R Q K S G p.360
. . . . . . g.67951
GGCAACTACAGCCGCCACCGTGCGCAGACGGAGAAGCACGTGGTCCTGTGTGTCAGCTCC c.1140
G N Y S R H R A Q T E K H V V L C V S S p.380
. . . . . . g.68011
CTCAAGATCGACCTTCTCATGGACTTCCTGAACGAGTTCTACGCCCACCCCCGGCTCCAG c.1200
L K I D L L M D F L N E F Y A H P R L Q p.400
| 13 . . . . . . g.68499
| GACTATTACGTGGTCATCCTGTGCCCCACGGAGATGGATGTCCAGGTGCGCAGAGTCCTG c.1260
| D Y Y V V I L C P T E M D V Q V R R V L p.420
. . . . . . g.68559
CAGATCCCTCTGTGGTCCCAGCGGGTCATCTACCTCCAGGGCTCTGCACTCAAAGACCAG c.1320
Q I P L W S Q R V I Y L Q G S A L K D Q p.440
. | 14. . . . . g.71468
GACCTCATGCGAGCCAA | GATGGACAATGGGGAGGCCTGCTTCATCCTCAGCAGCAGGAAC c.1380
D L M R A K | M D N G E A C F I L S S R N p.460
. . | 15 . . . . g.71683
GAGGTGGACCGCACGGCTGCA | GACCACCAGACCATCCTGCGCGCCTGGGCCGTGAAGGAC c.1440
E V D R T A A | D H Q T I L R A W A V K D p.480
. . . . . . g.71743
TTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAAAACAAGTTTCACGTC c.1500
F A P N C P L Y V Q I L K P E N K F H V p.500
. | 16 . . . . . g.72812
AAGTTTGCTG | ACCACGTGGTGTGTGAGGAGGAGTGCAAGTACGCCATGCTGGCGCTGAAC c.1560
K F A D | H V V C E E E C K Y A M L A L N p.520
. . . . . | 17 g.73114
TGCATCTGCCCGGCGACCTCCACCCTCATCACCCTGCTGGTGCACACGTCCCGCGGCCA | G c.1620
C I C P A T S T L I T L L V H T S R G Q | p.540
. . . . . . g.73174
GAGGGACAGGAGTCTCCGGAGCAGTGGCAGCGCATGTATGGGCGCTGCTCCGGCAACGAG c.1680
E G Q E S P E Q W Q R M Y G R C S G N E p.560
. . . . . . g.73234
GTGTACCACATCCGCATGGGTGACAGCAAGTTCTTCCGCGAGTACGAGGGCAAGAGCTTC c.1740
V Y H I R M G D S K F F R E Y E G K S F p.580
. . | 18 . . . g.73703
ACCTACGCGGCCTTCCACGCCCACAAGAA | GTATGGCGTGTGCCTCATCGGGCTGAAGCGG c.1800
T Y A A F H A H K K | Y G V C L I G L K R p.600
. . . . . . g.73763
GAGGACAACAAGAGCATCCTGCTGAACCCGGGGCCCCGGCACATCCTGGCCGCCTCTGAC c.1860
E D N K S I L L N P G P R H I L A A S D p.620
. . . . . . g.73823
ACCTGCTTCTACATCAACATCACCAAGGAGGAGAACTCGGCCTTCATCTTCAAGCAGGAG c.1920
T C F Y I N I T K E E N S A F I F K Q E p.640
. . . . . . g.73883
GAGAAGCGGAAGAAGAGGGCCTTCTCGGGGCAGGGGCTGCACGAGGGTCCGGCCCGCCTG c.1980
E K R K K R A F S G Q G L H E G P A R L p.660
. . | 19 . . . g.75562
CCCGTGCACAGCATCATCGCCTCCATGG | GGACAGTGGCCATGGACCTGCAGGGCACAGAG c.2040
P V H S I I A S M G | T V A M D L Q G T E p.680
. . . . . . g.75622
CACCGGCCTACGCAGAGCGGCGGTGGGGGCGGGGGCAGCAAGCTGGCACTGCCCACGGAG c.2100
H R P T Q S G G G G G G S K L A L P T E p.700
. . . . . . g.75682
AACGGCTCGGGCAGCCGGCGGCCCAGCATCGCGCCCGTCCTGGAACTGGCCGACAGCTCA c.2160
N G S G S R R P S I A P V L E L A D S S p.720
. . . . . . g.75742
GCCCTGCTGCCCTGCGACCTGCTGAGCGACCAGTCGGAGGATGAGGTGACGCCGTCGGAC c.2220
A L L P C D L L S D Q S E D E V T P S D p.740
. . | 20 . . . . g.78162
GACGAGGGGCTCTCCGTGGTAGA | GTATGTGAAGGGCTACCCTCCCAACTCGCCCTACATC c.2280
D E G L S V V E | Y V K G Y P P N S P Y I p.760
. . . . . . g.78222
GGCAGCTCCCCAACCCTGTGCCACCTCCTGCCTGTGAAAGCCCCCTTCTGCTGCCTGCGG c.2340
G S S P T L C H L L P V K A P F C C L R p.780
| 21 . . . . . g.80204
CTGGACAAG | GGCTGCAAGCACAACAGCTATGAAGACGCCAAGGCCTACGGGTTCAAGAAC c.2400
L D K | G C K H N S Y E D A K A Y G F K N p.800
. . . . . . g.80264
AAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCA c.2460
K L I I V S A E T A G N G L Y N F I V P p.820
. . . . . . g.80324
CTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAAC c.2520
L R A Y Y R S R K E L N P I V L L L D N p.840
| 22 . . . . . . g.81297
AA | GCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAG c.2580
K | P D H H F L E A I C C F P M V Y Y M E p.860
. | 23 . . . . . g.81549
GGCTCTGTGGACAA | CCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTG c.2640
G S V D N | L D S L L Q C G I I Y A D N L p.880
. . . . . . g.81609
GTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAG c.2700
V V V D K E S T M S A E E D Y M A D A K p.900
. . | 24 . . . g.82205
ACCATCGTCAACGTGCAGACCATGTTCCG | GCTCTTCCCCAGCCTCAGCATCACCACGGAG c.2760
T I V N V Q T M F R | L F P S L S I T T E p.920
. . . . . . g.82265
CTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTG c.2820
L T H P S N M R F M Q F R A K D S Y S L p.940
. . | 25 . . . . g.86878
GCTCTTTCCAAACTAGAAAAG | AGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTC c.2880
A L S K L E K | R E R E N G S N L A F M F p.960
. . . . . . g.86938
CGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTAC c.2940
R L P F A A G R V F S I S M L D T L L Y p.980
| 26 . . . . . . g.87407
CAG | TCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACC c.3000
Q | S F V K D Y M I T I T R L L L G L D T p.1000
. . | 27. . . . g.87609
ACGCCGGGCTCGGGGTACCTCTGTGCC | ATGAAAATCACCGAGGGCGACCTGTGGATCCGC c.3060
T P G S G Y L C A | M K I T E G D L W I R p.1020
. . . . . . g.87669
ACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATC c.3120
T Y G R L F Q K L C S S S A E I P I G I p.1040
. . . | 28 . . | 29. g.89015
TACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAG | CCCCACGACCTCAGAGCCCAG | TCC c.3180
Y R T E S H V F S T S E | P H D L R A Q | S p.1060
. . . . . . g.89075
CAGATCTCGGTGAACGTGGAGGACTGTGAGGACACACGGGAAGTGAAGGGGCCCTGGGGC c.3240
Q I S V N V E D C E D T R E V K G P W G p.1080
. . . . . . g.89135
TCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCGGTGACCCCGCA c.3300
S R A G T G G S S Q G R H T G G G D P A p.1100
. . . . . . g.89195
GAGCACCCACTGCTACGGCGCAAGAGCCTGCAGTGGGCCCGGAGGCTGAGCCGCAAGGCG c.3360
E H P L L R R K S L Q W A R R L S R K A p.1120
. . . . . . g.89255
CCCAAGCAGGCAGGCCGGGCGGCGGCCGCGGAGTGGATCAGCCAGCAGCGCCTCAGCCTG c.3420
P K Q A G R A A A A E W I S Q Q R L S L p.1140
. . . . . . g.89315
TACCGGCGCTCTGAGCGCCAGGAGCTCTCCGAGCTGGTGAAGAACCGCATGAAGCACCTG c.3480
Y R R S E R Q E L S E L V K N R M K H L p.1160
. . | 30 . . . . g.94650
GGGCTGCCCACCACCGGCTACG | ACGAGATGAACGACCACCAGAACACCCTCTCCTACGTC c.3540
G L P T T G Y D | E M N D H Q N T L S Y V p.1180
. . . . | 31. . g.94869
CTCATCAACCCTCCGCCCGACACGAGGCTGGAGCCCAGTGACATTGT | CTATCTCATCCGC c.3600
L I N P P P D T R L E P S D I V | Y L I R p.1200
. . . . . . g.94929
TCCGACCCCCTGGCTCACGTGGCCAGCAGCTCCCAGAGCCGGAAGAGCAGCTGCAGCCAC c.3660
S D P L A H V A S S S Q S R K S S C S H p.1220
. . . . g.94977
AAGCTGTCGTCCTGCAACCCCGAGACTCGCGACGAGACACAGCTCTGA c.3708
K L S S C N P E T R D E T Q L X p.1235
. . . . . . g.95037
gccagccctgcacggagctcaggccaccaagcccggggtcctcaggaaggacgtggagga c.*60
. . . . . . g.95097
gcgtgtgaggacacggtggcactagcgtgaccctggggatggcacactctactcaccatg c.*120
. . . . . . g.95157
gctcctgggactccaccctggaaaggagcccctcatgcggggggagggccagctcacccc c.*180
. . . . . . g.95217
tgggcacctgcaggctagtgaggagagttttttaacctatttttacacgtcgatgcagtc c.*240
. . . . . . g.95277
cacttctctttacacagatgtaccgcaactcgtgaccagggctggctgggagggcaacgc c.*300
. . . . . . g.95337
agggactggacgccctacagggccgagcccaggctgtgctggagggtggggctggggtgc c.*360
. . . . . . g.95397
atggggaggggagcagaacccagaacccaggagccccgcgtgggccacacccaactcaga c.*420
. . . . . . g.95457
gccggcctgagcgttcacggccaggcagcctcgcttccttgcagccaagggctgggggcc c.*480
. . . . . . g.95517
agggctgctgttctgcactctggggtgggtgagggggaccctgggctgtttgctgtccca c.*540
. . . . . . g.95577
agccccttctggaagttagaagcagcaaagggcccggggaagccgggcatgtgagagggg c.*600
. . . . . . g.95637
tgcgtccccaggtcccccagagggccctgtcgccgaggacctttctgaaggaagcagaag c.*660
. . . . . . g.95697
acgccatttcctctacttcacactgaactgtcccagccactgcatctagggggcattggg c.*720
. . . . . . g.95757
cggaagatggtgcatttccatggaccattttacacttaccttttaaagcaaagcctcatt c.*780
. . . . . . g.95817
ttctaaacccctgacttgtgaagcacaattcagcctccgggctgggccacgtggagagag c.*840
. . . . . . g.95877
aggatcttctcagcaaggcgagatcccgggcggcggctgacatcaggagcgccaccctgc c.*900
. . . . . . g.95937
gtcctttgctgctggttccttactggtttgtacggtcagcgctggaaacttctattaaat c.*960
. . g.95963
ggatgcattctggaggcatgaagtta c.*986
(downstream sequence)
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