(used for variant description)
(last modified April 13, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000220.4 in the KCNJ1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering KCNJ1 transcript NM_000220.4.
(upstream sequence)
. . . . . g.29896
acacaaattagcgtcagtccactgactgtcgcctacaataaattaggctgagtctaa c.-61
. . . . . . g.29956
aagaaatcagtctgcatagaaagaccaacaaccagcaccacttccttgctttttccagcc c.-1
. . . | 02 . . . g.32133
ATGAATGCTTCCAGTCGGAATGTGTTTGACACGTTG | ATCAGGGTGTTGACAGAAAGTATG c.60
M N A S S R N V F D T L | I R V L T E S M p.20
. . . . . . g.32193
TTCAAACATCTTCGGAAATGGGTCGTCACTCGCTTTTTTGGGCATTCTCGGCAAAGAGCA c.120
F K H L R K W V V T R F F G H S R Q R A p.40
. . . . . . g.32253
AGGCTAGTCTCCAAAGATGGAAGGTGCAACATAGAATTTGGCAATGTGGAGGCACAGTCA c.180
R L V S K D G R C N I E F G N V E A Q S p.60
. . . . . . g.32313
AGGTTTATATTCTTTGTGGACATCTGGACAACGGTACTTGACCTCAAGTGGAGATACAAA c.240
R F I F F V D I W T T V L D L K W R Y K p.80
. . . . . . g.32373
ATGACCATTTTCATCACAGCCTTCTTGGGGAGTTGGTTTTTCTTTGGTCTCCTGTGGTAT c.300
M T I F I T A F L G S W F F F G L L W Y p.100
. . . . . . g.32433
GCAGTAGCGTACATTCACAAAGACCTCCCGGAATTCCATCCTTCTGCCAATCACACTCCC c.360
A V A Y I H K D L P E F H P S A N H T P p.120
. . . . . . g.32493
TGTGTGGAGAATATTAATGGCTTGACCTCAGCTTTTCTGTTTTCTCTGGAGACTCAAGTG c.420
C V E N I N G L T S A F L F S L E T Q V p.140
. . . . . . g.32553
ACCATTGGATATGGATTCAGGTGTGTGACAGAACAGTGTGCCACTGCCATTTTTCTGCTT c.480
T I G Y G F R C V T E Q C A T A I F L L p.160
. . . . . . g.32613
ATCTTTCAGTCTATACTTGGAGTTATAATCAATTCTTTCATGTGTGGGGCCATCTTAGCC c.540
I F Q S I L G V I I N S F M C G A I L A p.180
. . . . . . g.32673
AAGATCTCCAGGCCCAAAAAACGTGCCAAGACCATTACGTTCAGCAAGAACGCAGTGATC c.600
K I S R P K K R A K T I T F S K N A V I p.200
. . . . . . g.32733
AGCAAACGGGGAGGGAAGCTTTGCCTCCTAATCCGAGTGGCTAATCTCAGGAAGAGCCTT c.660
S K R G G K L C L L I R V A N L R K S L p.220
. . . . . . g.32793
CTTATTGGCAGTCACATTTATGGAAAGCTTCTGAAGACCACAGTCACTCCTGAAGGAGAG c.720
L I G S H I Y G K L L K T T V T P E G E p.240
. . . . . . g.32853
ACCATTATTTTGGACCAGATCAATATCAACTTTGTAGTTGACGCTGGGAATGAAAATTTA c.780
T I I L D Q I N I N F V V D A G N E N L p.260
. . . . . . g.32913
TTCTTCATCTCCCCATTGACAATTTACCATGTCATTGATCACAACAGCCCTTTCTTCCAC c.840
F F I S P L T I Y H V I D H N S P F F H p.280
. . . . . . g.32973
ATGGCAGCGGAGACCCTTCTCCAGCAGGACTTTGAATTAGTGGTGTTTTTAGATGGCACA c.900
M A A E T L L Q Q D F E L V V F L D G T p.300
. . . . . . g.33033
GTGGAGTCCACCAGTGCTACCTGCCAAGTCCGGACATCCTATGTCCCAGAGGAGGTGCTT c.960
V E S T S A T C Q V R T S Y V P E E V L p.320
. . . . . . g.33093
TGGGGCTACCGTTTTGCTCCCATAGTATCCAAGACAAAGGAAGGGAAATACCGAGTGGAT c.1020
W G Y R F A P I V S K T K E G K Y R V D p.340
. . . . . . g.33153
TTCCATAACTTTAGCAAGACAGTGGAAGTGGAGACCCCTCACTGTGCCATGTGCCTTTAT c.1080
F H N F S K T V E V E T P H C A M C L Y p.360
. . . . . . g.33213
AATGAGAAAGATGTTAGAGCCAGGATGAAGAGAGGCTATGACAACCCCAACTTCATCTTG c.1140
N E K D V R A R M K R G Y D N P N F I L p.380
. . . g.33249
TCAGAAGTCAATGAAACAGATGACACCAAAATGTAA c.1176
S E V N E T D D T K M X p.391
. . . . . . g.33309
cagtggcttttcaacgggagtaaagcaaagtctctaaagctcctagtacctagaagcatt c.*60
. . . . . . g.33369
atgaagcagtcaacaatttaggggtacgaaagtaggatgagagccttcaaagtctaccag c.*120
. . . . . . g.33429
cacaaagacccctgagccccgcaattgtgatcccacaagacatgcatctccacaaggcta c.*180
. . . . . . g.33489
ctgtattagaacgtgcaatgcatttatatgaaactggtgtatggaagacataggtgctct c.*240
. . . . . . g.33549
cttgaaatcttaaatatgattatttgagctcatataaggtggattggagcagataaaatt c.*300
. . . . . . g.33609
atcaaaagtttcatgaacaggccaaacaaaatattttttaaagtttccttaaagaagtta c.*360
. . . . . . g.33669
tgaactttagaaaggatcaggggacaataataatctcattttgattctactgataagaat c.*420
. . . . . . g.33729
gactccacttttaatgtggacttttactcatggaaaaattgtctcctaatttggggagat c.*480
. . . . . . g.33789
gaaccaaccaatcaatgacaagaaaacgcttacacaaagaacaatttgaggctctaagct c.*540
. . . . . . g.33849
tctcatgtggtacgtttagacagaggctaaatctgcacactagaatcttgatgatacctt c.*600
. . . . . . g.33909
cctgcaagacagaatgctttagttaaaagtggtgatgatatttctttcaatctgtattgg c.*660
. . . . . . g.33969
atggcttaaagggctataaatctgtttataaagagcatttcctgctcttcgaagacagca c.*720
. . . . . . g.34029
atgaggagttggaaggtgcaaagtcagtagagaagggaatgtatcattaatgcacctgag c.*780
. . . . . . g.34089
aagaaacagtttcatgtgttcctccacctagagtttgtactggaatgctatttctaaaga c.*840
. . . . . . g.34149
agaagtgggaaagagagaggaatgggatggagccccacagtcagaatgttactatgtctt c.*900
. . . . . . g.34209
tctttccctgacagcccatcttcctaaaagggaccagcttatggaaggctcgaccttgag c.*960
. . . . . . g.34269
gggaaagttttactgtgaaagtcttcttcagatccccacctgcatcattccgaatgtgtc c.*1020
. . . . . . g.34329
ctggaaaaaaactggtactcaaagctgcttaggaatcaaaatgttttcagtgtgttgatt c.*1080
. . . g.34360
aatatagtaaatttctgaaactgtgcatgca c.*1111
(downstream sequence)
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