(used for variant description)
(last modified November 22, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000890.3 in the KCNJ5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering KCNJ5 transcript NM_000890.3.
(upstream sequence)
. g.5014
acacacacacacac c.-301
. . . . . . g.5074
acacacacacagagagagagagagagagagagagagagagagagattgttccagctgctc c.-241
. . . . . . g.5134
tcgctagagaaagggagtgacccaaggggccgcgagtgaagggacaggatggcttaggta c.-181
. . . . . . g.5194
cctctgcccacaggaccccacaacagggagaggttccagctacagctcctccgtggggtc c.-121
. . . . . . g.5254
atggcaggggctggggagtcccctcaaaagccctgagcccccctgcaccgccgctaaggg c.-61
. . . . . | 02 g.24856
acaccccagaagttagcatcagtgggactcggaagctccgatctcaacaa | catcccagct c.-1
. . . . . . g.24916
ATGGCTGGCGATTCTAGGAATGCCATGAACCAGGACATGGAGATTGGAGTCACTCCCTGG c.60
M A G D S R N A M N Q D M E I G V T P W p.20
. . . . . . g.24976
GACCCCAAGAAGATTCCAAAACAGGCCCGCGATTATGTCCCCATTGCCACAGACCGTACG c.120
D P K K I P K Q A R D Y V P I A T D R T p.40
. . . . . . g.25036
CGCCTGCTGGCCGAGGGCAAGAAGCCACGCCAGCGCTACATGGAGAAGAGTGGCAAGTGC c.180
R L L A E G K K P R Q R Y M E K S G K C p.60
. . . . . . g.25096
AACGTGCACCACGGCAACGTCCAGGAGACCTACCGGTACCTGAGTGACCTCTTCACCACC c.240
N V H H G N V Q E T Y R Y L S D L F T T p.80
. . . . . . g.25156
CTGGTGGACCTCAAGTGGCGCTTCAACTTGCTCGTCTTCACCATGGTTTACACTGTCACC c.300
L V D L K W R F N L L V F T M V Y T V T p.100
. . . . . . g.25216
TGGCTGTTCTTCGGCTTCATTTGGTGGCTCATTGCTTATATCCGGGGTGACCTGGACCAT c.360
W L F F G F I W W L I A Y I R G D L D H p.120
. . . . . . g.25276
GTTGGCGACCAAGAGTGGATTCCTTGTGTTGAAAACCTCAGTGGCTTCGTGTCCGCTTTC c.420
V G D Q E W I P C V E N L S G F V S A F p.140
. . . . . . g.25336
CTGTTCTCCATTGAGACCGAAACAACCATTGGGTATGGCTTCCGAGTCATCACAGAGAAG c.480
L F S I E T E T T I G Y G F R V I T E K p.160
. . . . . . g.25396
TGTCCAGAGGGGATTATACTCCTCTTGGTCCAGGCCATCCTGGGCTCCATCGTCAATGCC c.540
C P E G I I L L L V Q A I L G S I V N A p.180
. . . . . . g.25456
TTCATGGTGGGGTGCATGTTTGTCAAGATCAGCCAGCCCAAGAAGAGAGCGGAGACCCTC c.600
F M V G C M F V K I S Q P K K R A E T L p.200
. . . . . . g.25516
ATGTTTTCCAACAACGCAGTCATCTCCATGCGGGACGAGAAGCTGTGCCTCATGTTCCGG c.660
M F S N N A V I S M R D E K L C L M F R p.220
. . . . . . g.25576
GTGGGCGACCTCCGCAACTCCCACATCGTGGAGGCCTCCATCCGGGCCAAGCTCATCAAG c.720
V G D L R N S H I V E A S I R A K L I K p.240
. . . . . . g.25636
TCCCGGCAGACCAAAGAGGGGGAGTTCATCCCCCTGAACCAGACAGACATCAACGTGGGC c.780
S R Q T K E G E F I P L N Q T D I N V G p.260
. . . . . . g.25696
TTTGACACGGGCGACGACCGCCTCTTCCTTGTGTCTCCTCTGATCATCTCCCATGAGATC c.840
F D T G D D R L F L V S P L I I S H E I p.280
. . . . . . g.25756
AACCAGAAGAGCCCTTTCTGGGAGATGTCTCAGGCTCAGCTGCATCAGGAAGAGTTTGAA c.900
N Q K S P F W E M S Q A Q L H Q E E F E p.300
. . . | 03. . . g.30014
GTTGTGGTCATTCTAGAAGGGATGGTGGAAGCCACAG | GCATGACCTGCCAAGCCCGGAGC c.960
V V V I L E G M V E A T G | M T C Q A R S p.320
. . . . . . g.30074
TCCTACATGGATACAGAGGTGCTCTGGGGCCACCGATTCACACCAGTCCTCACCTTGGAA c.1020
S Y M D T E V L W G H R F T P V L T L E p.340
. . . . . . g.30134
AAGGGCTTCTATGAGGTGGACTACAACACCTTCCATGATACCTATGAGACCAACACACCC c.1080
K G F Y E V D Y N T F H D T Y E T N T P p.360
. . . . . . g.30194
AGCTGCTGTGCCAAGGAGCTGGCAGAAATGAAGAGGGAAGGCCGGCTCCTCCAGTACCTC c.1140
S C C A K E L A E M K R E G R L L Q Y L p.380
. . . . . . g.30254
CCCAGCCCCCCACTGCTGGGGGGCTGTGCTGAGGCAGGGCTGGATGCAGAGGCTGAGCAG c.1200
P S P P L L G G C A E A G L D A E A E Q p.400
. . . . . . g.30314
AATGAAGAAGATGAGCCCAAGGGGCTGGGTGGGTCCAGGGAGGCCAGGGGCTCGGTGTGA c.1260
N E E D E P K G L G G S R E A R G S V X p.419
. . . . . . g.30374
ggggtgcagcctccctaagacctcctgtcactggcttcagtgaacacagacactgcagag c.*60
. . . . . . g.30434
cctgggagcaggggaggggaatagttgagtgtgctgtttgggggctcaggagccatcaag c.*120
. . . . . . g.30494
gctgtggggaggaaccataaacccagccctcacagctcccagcacagggcctccctgagc c.*180
. . . . . . g.30554
cagtggcatcctgcctgggccccccatggcagtgctgcctcttgtaggtgctggctaagg c.*240
. . . . . . g.30614
gccaggccaggatgagtttccccatggtgaatgttaccggatggcatctgttctctccat c.*300
. . . . . . g.30674
gccctgggtcacttccttttttgggtctcacagacccctccaggggctgacacctagaga c.*360
. . . . . . g.30734
gaaccatcaccttgtccctcattccttccaccctgaggcttgctgtggactcagagagga c.*420
. . . . . . g.30794
gacttacctgatgagagctcaaacctctagtctgggatgagctcacagagccctcatgag c.*480
. . . . . . g.30854
ttaagatccatccatatcacataggcaattccttttaaatcagataccaacgacccatta c.*540
. . . . . . g.30914
ctgagaggtacagagcgtacagcccttggtgttctctgctgttatctgccaaatgtgtgt c.*600
. . . . . . g.30974
gtttttcctctgctgtgttctgtgtgtccagtgtagcctattggagaatcggtctcatta c.*660
. . . . . . g.31034
gagtgactcttagaaggtggcctgggactagacagcccctctgagcacatgcatagtggc c.*720
. . . . . . g.31094
atcagcagcttcctggcctactcccaatcacactgtgccctgcacctcccaccaaggggg c.*780
. . . . . . g.31154
aaccccagcagctggggcttttcgagtgctttttggcccaagaatctcagagtgcttcta c.*840
. . . . . . g.31214
atcatcacagtagtttttgtgttttgttttgttttgttttgttttgttttgttttgtttt c.*900
. . . . . . g.31274
gtttttttcacaatctcagccagcctgcggtgtgacctggggagaaagttgagtgtcagg c.*960
. . . . . . g.31334
ggacatgatgagccagttggccctgaaacaggaatggggcaaagagaaaggagagccagg c.*1020
. . . . . . g.31394
agcatttaaaaatcagcatctgggccaggcaagatggctcacgcctgtgatcccagcatt c.*1080
. . . . . . g.31454
ttgggaggccgaggcgggtggatcatgaggtcaggagatcgagaccatcctggctaacac c.*1140
. . . . . . g.31514
ggtgaaaccccgtctctactgaaaatacaaaaaattagccaggcatggtggcaggtgcct c.*1200
. . . . . . g.31574
gtagtcccagctactcgggaagctgaggcagaagaatggcatgaacctgggaggtggagg c.*1260
. . . . . . g.31634
ttgcagtgagccaagatcatgccactgcactccagcctgggcgacagagcgagactccat c.*1320
. g.31652
ctcaaaaaaaaaaaaaac c.*1338
(downstream sequence)
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