(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the LRRC8A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering LRRC8A transcript NM_019594.3.
(upstream sequence)
. g.1014
acttccggggcgga c.-241
. . . . . . g.1074
ggaggctgagtggtgcagtgagggacaaacaaaaggaggcgccggagcagcgctgcggcc c.-181
. . . . . . g.1134
ggcggcgggacggagcggccggggcctggggctgcctgccgggcggccgggcgcggcgag c.-121
. | 02 . . . . . g.4958
cccag | ggaggcagcgtccatggagcaaaaggaatgccaggatcctgcacaggcagacgcg c.-61
. . . . . . | 03 g.26053
ggccagcctcagcaccgacagccgacgcgcagatagcagagccatccttggg | gttgaacc c.-1
. . . . . . g.26113
ATGATTCCGGTGACAGAGCTCCGCTACTTTGCGGACACGCAGCCAGCATACCGGATCCTG c.60
M I P V T E L R Y F A D T Q P A Y R I L p.20
. . . . . . g.26173
AAGCCGTGGTGGGATGTGTTCACAGACTACATCTCTATCGTCATGCTGATGATTGCCGTC c.120
K P W W D V F T D Y I S I V M L M I A V p.40
. . . . . . g.26233
TTCGGGGGGACGCTGCAGGTCACCCAAGACAAGATGATCTGCCTGCCTTGTAAGTGGGTC c.180
F G G T L Q V T Q D K M I C L P C K W V p.60
. . . . . . g.26293
ACCAAGGACTCCTGCAATGATTCGTTCCGGGGCTGGGCAGCCCCTGGCCCGGAGCCCACC c.240
T K D S C N D S F R G W A A P G P E P T p.80
. . . . . . g.26353
TACCCCAACTCCACCATTCTGCCGACCCCTGACACGGGCCCCACAGGCATCAAGTATGAC c.300
Y P N S T I L P T P D T G P T G I K Y D p.100
. . . . . . g.26413
CTGGACCGGCACCAGTACAACTACGTGGACGCTGTGTGCTATGAGAACCGACTGCACTGG c.360
L D R H Q Y N Y V D A V C Y E N R L H W p.120
. . . . . . g.26473
TTTGCCAAGTACTTCCCCTACCTGGTGCTTCTGCACACGCTCATCTTCCTGGCCTGCAGC c.420
F A K Y F P Y L V L L H T L I F L A C S p.140
. . . . . . g.26533
AACTTCTGGTTCAAATTCCCGCGCACCAGCTCGAAGCTGGAGCACTTTGTGTCTATCCTG c.480
N F W F K F P R T S S K L E H F V S I L p.160
. . . . . . g.26593
CTGAAGTGCTTCGACTCGCCCTGGACCACGAGGGCCCTGTCGGAGACAGTGGTGGAGGAG c.540
L K C F D S P W T T R A L S E T V V E E p.180
. . . . . . g.26653
AGCGACCCCAAGCCGGCCTTCAGCAAGATGAATGGGTCCATGGACAAAAAGTCATCGACC c.600
S D P K P A F S K M N G S M D K K S S T p.200
. . . . . . g.26713
GTCAGTGAGGACGTGGAGGCCACCGTGCCCATGCTGCAGCGGACCAAGTCACGGATCGAG c.660
V S E D V E A T V P M L Q R T K S R I E p.220
. . . . . . g.26773
CAGGGTATCGTGGACCGCTCAGAGACGGGCGTGCTGGACAAGAAGGAGGGGGAGCAAGCC c.720
Q G I V D R S E T G V L D K K E G E Q A p.240
. . . . . . g.26833
AAGGCGCTGTTTGAGAAGGTGAAGAAGTTCCGGACCCATGTGGAGGAGGGGGACATTGTG c.780
K A L F E K V K K F R T H V E E G D I V p.260
. . . . . . g.26893
TACCGCCTCTACATGCGGCAGACCATCATCAAGGTGATCAAGTTCATCCTCATCATCTGC c.840
Y R L Y M R Q T I I K V I K F I L I I C p.280
. . . . . . g.26953
TACACCGTCTACTACGTGCACAACATCAAGTTCGACGTGGACTGCACCGTGGACATTGAG c.900
Y T V Y Y V H N I K F D V D C T V D I E p.300
. . . . . . g.27013
AGCCTGACGGGCTACCGCACCTACCGCTGTGCCCACCCCCTGGCCACACTCTTCAAGATC c.960
S L T G Y R T Y R C A H P L A T L F K I p.320
. . . . . . g.27073
CTGGCGTCCTTCTACATCAGCCTAGTCATCTTCTACGGCCTCATCTGCATGTATACACTG c.1020
L A S F Y I S L V I F Y G L I C M Y T L p.340
. . . . . . g.27133
TGGTGGATGCTACGGCGCTCCCTCAAGAAGTACTCGTTTGAGTCGATCCGTGAGGAGAGC c.1080
W W M L R R S L K K Y S F E S I R E E S p.360
. . . . . . g.27193
AGCTACAGCGACATCCCCGACGTCAAGAACGACTTCGCCTTCATGCTGCACCTCATTGAC c.1140
S Y S D I P D V K N D F A F M L H L I D p.380
. . . . . . g.27253
CAATACGACCCGCTCTACTCCAAGCGCTTCGCCGTCTTCCTGTCGGAGGTGAGTGAGAAC c.1200
Q Y D P L Y S K R F A V F L S E V S E N p.400
. . . . . . g.27313
AAGCTGCGGCAGCTGAACCTCAACAACGAGTGGACGCTGGACAAGCTCCGGCAGCGGCTC c.1260
K L R Q L N L N N E W T L D K L R Q R L p.420
. . . . . . g.27373
ACCAAGAACGCGCAGGACAAGCTGGAGCTGCACCTGTTCATGCTCAGTGGCATCCCTGAC c.1320
T K N A Q D K L E L H L F M L S G I P D p.440
. . . . . . g.27433
ACTGTGTTTGACCTGGTGGAGCTGGAGGTCCTCAAGCTGGAGCTGATCCCCGACGTGACC c.1380
T V F D L V E L E V L K L E L I P D V T p.460
. . . . . . g.27493
ATCCCGCCCAGCATTGCCCAGCTCACGGGCCTCAAGGAGCTGTGGCTCTACCACACAGCG c.1440
I P P S I A Q L T G L K E L W L Y H T A p.480
. . . . . . g.27553
GCCAAGATTGAAGCGCCCGCGCTGGCCTTCCTGCGTGAGAACCTGCGGGCGCTGCACATC c.1500
A K I E A P A L A F L R E N L R A L H I p.500
. . . . . . g.27613
AAGTTCACCGACATCAAGGAGATCCCGCTGTGGATCTATAGCCTGAAGACACTGGAGGAG c.1560
K F T D I K E I P L W I Y S L K T L E E p.520
. . . . . . g.27673
CTGCACCTGACGGGCAACCTGAGCGCGGAGAACAACCGCTACATCGTCATCGACGGGCTG c.1620
L H L T G N L S A E N N R Y I V I D G L p.540
. . . . . . g.27733
CGGGAGCTCAAACGCCTCAAGGTGCTGCGGCTCAAGAGCAACCTAAGCAAGCTGCCACAG c.1680
R E L K R L K V L R L K S N L S K L P Q p.560
. . . . . . g.27793
GTGGTCACAGATGTGGGCGTGCACCTGCAGAAGCTGTCCATCAACAATGAGGGCACCAAG c.1740
V V T D V G V H L Q K L S I N N E G T K p.580
. . . . . . g.27853
CTCATCGTCCTCAACAGCCTCAAGAAGATGGCGAACCTGACTGAGCTGGAGCTGATCCGC c.1800
L I V L N S L K K M A N L T E L E L I R p.600
. . . . . . g.27913
TGTGACCTGGAGCGCATCCCCCACTCCATCTTCAGCCTCCACAACCTGCAGGAGATTGAC c.1860
C D L E R I P H S I F S L H N L Q E I D p.620
. . . . . . g.27973
CTCAAGGACAACAACCTCAAGACCATCGAGGAGATCATCAGCTTCCAGCACCTGCACCGC c.1920
L K D N N L K T I E E I I S F Q H L H R p.640
. . . . . . g.28033
CTCACCTGCCTTAAGCTGTGGTACAACCACATCGCCTACATCCCCATCCAGATCGGCAAC c.1980
L T C L K L W Y N H I A Y I P I Q I G N p.660
. . . . . . g.28093
CTCACCAACCTGGAGCGCCTCTACCTGAACCGCAACAAGATCGAGAAGATCCCCACCCAG c.2040
L T N L E R L Y L N R N K I E K I P T Q p.680
. . . . . . g.28153
CTCTTCTACTGCCGCAAGCTGCGCTACCTGGACCTCAGCCACAACAACCTGACCTTCCTC c.2100
L F Y C R K L R Y L D L S H N N L T F L p.700
. . . . . | 04. g.34987
CCTGCCGACATCGGCCTCCTGCAGAACCTCCAGAACCTAGCCATCACGGCCAACCGG | ATC c.2160
P A D I G L L Q N L Q N L A I T A N R | I p.720
. . . . . . g.35047
GAGACGCTCCCTCCGGAGCTCTTCCAGTGCCGGAAGCTGCGGGCCCTGCACCTGGGCAAC c.2220
E T L P P E L F Q C R K L R A L H L G N p.740
. . . . . . g.35107
AACGTGCTGCAGTCACTGCCCTCCAGGGTGGGCGAGCTGACCAACCTGACGCAGATCGAG c.2280
N V L Q S L P S R V G E L T N L T Q I E p.760
. . . . . . g.35167
CTGCGGGGCAACCGGCTGGAGTGCCTGCCTGTGGAGCTGGGCGAGTGCCCACTGCTCAAG c.2340
L R G N R L E C L P V E L G E C P L L K p.780
. . . . . . g.35227
CGCAGCGGCTTGGTGGTGGAGGAGGACCTGTTCAACACACTGCCACCCGAGGTGAAGGAG c.2400
R S G L V V E E D L F N T L P P E V K E p.800
. . . g.35260
CGGCTGTGGAGGGCTGACAAGGAGCAGGCCTGA c.2433
R L W R A D K E Q A X p.810
. . . . . . g.35320
gcgaggccggcccagcacagcaagcagcaggaccgctgcccagtcctcaggcccggaggg c.*60
. . . . . . g.35380
gcaggcctagcttctcccagaactcccggacagccaggacagcctcgtggctgggcagga c.*120
. . . . . . g.35440
gcctggggccgcttgtgagtcaggccagagcgagaggacagtatctgtggggctggcccc c.*180
. . . . . . g.35500
ttttctccctctgagactcacgtcccccagggcaagtgcttgtggaggagagcaagtctc c.*240
. . . . . . g.35560
aagagcgcagtatttggataatcagggtctcctccctggaggccagctctgccccagggg c.*300
. . . . . . g.35620
ctgagctgccaccagaggtcctgggaccctcactttagttcttggtatttatttttctcc c.*360
. . . . . . g.35680
atctcccacctccttcatccagataacttatacattcccaagaaagttcagcccagatgg c.*420
. . . . . . g.35740
aaggtgttcagggaaaggtgggctgccttttccccttgtccttatttagcgatgccgccg c.*480
. . . . . . g.35800
ggcatttaacacccacctggacttcagcagagtggtccggggcgaaccagccatgggacg c.*540
. . . . . . g.35860
gtcacccagcagtgccgggctgggctctgcggtgcggtccacgggagagcaggcctccag c.*600
. . . . . . g.35920
ctggaaaggccaggcctggagcttgcctcttcagtatttgtggcagttttagttttttgt c.*660
. . . . . . g.35980
ttttttttttttaatcaaaaaacaatttttttaaaaaaaaagctttgaaaatggatggtt c.*720
. . . . . . g.36040
tgggtattaaaaagaaaaaaaaaacttaaaaaaaaaaagacactaacggccagtgagttg c.*780
. . . . . . g.36100
gagtctcagggcagggtggcagtttcccttgagcaaagcagccagacgttgaactgtgtt c.*840
. . . . . . g.36160
tcctttccctgggcgcagggtgcagggtgtcttccggatctggtgtgaccttggtccagg c.*900
. . . . . . g.36220
agttctatttgttcctggggagggaggtttttttgtttgttttttgggtttttttggtgt c.*960
. . . . . . g.36280
cttgttttctttctcctccatgtgtcttggcaggcactcatttctgtggctgtcggccag c.*1020
. . . . . . g.36340
agggaatgttctggagctgccaaggagggaggagactcgggttggctaatccccggatga c.*1080
. . . . . . g.36400
acggtgctccattcgcacctcccctcctcgtgcctgccctgcctctccacgcacagtgtt c.*1140
. . . . . . g.36460
aaggagccaagaggagccacttcgcccagactttgtttccccaccgcctgcggcatgggt c.*1200
. . . . . . g.36520
gtgtccagtgccaccgctggcctccgctgcttccatcagccctgtcaccacctggtcctt c.*1260
. . . . . . g.36580
catgaagagcagacacttagaggctggtcgggaatggggaggtcgcccctgggagggcag c.*1320
. . . . . . g.36640
gcgttggttccaagccggttcccgtccctggcgcctggagtgcacacagcccagtcggca c.*1380
. . . . . . g.36700
cctggtggctggaagccaccctgctttagatcactcgggtccccaccttagaagggtccc c.*1440
. . . . . . g.36760
cgccttagatcaatcacgtggacactaaggcacgttttagagtctcttgtcttaatgatt c.*1500
. . . . . . g.36820
atgtccatccgtctgtccgtccatttgtgttttctgcgtcgtgtcattggatataatcct c.*1560
. . . . . . g.36880
cagaaataatgcacactagcctctgacaaccatgaagcaaaaatccgttacatgtgggtc c.*1620
. . . . g.36928
tgaacttgtagactcggtcacagtatcaaataaaatctataacagaaa c.*1668
(downstream sequence)
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