(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the TMC8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering TMC8 transcript NM_152468.4.
(upstream sequence)
. . g.2376
caccaccctgcctggcttggca c.-361
. . . . . . | 02 g.2865
ggagtcgtctgagaaggggactcctccagggacttggtccctaggtccccag | atggggag c.-301
. . . . . . g.2925
actgaggccgtggctgtgtgtccctctgagagttggagcggggctgggcccgaattcgac c.-241
. . . . . . g.2985
cgcagcaggattctctctcatttctgagccccggaggtggcagagcggcagacccgggca c.-181
. . . . . . g.3045
agtgaaccctagggctgcaggagcccaggccccgacgccggcgcagaggggacggaaggg c.-121
. . . . . . g.3105
cccgcccccagcccagcgtgcacagaggccatagccaaggccttaaggctcatccaaccg c.-61
. . . . . . g.3165
gggactcatatcccccccaccggcagcccggcgccccagcctctacccgtgcccgccgag c.-1
. . . . . . g.3225
ATGCTGCTGCCGCGGTCGGTGTCATCGGAGCGGGCCCCTGGGGTGCCGGAGCCGGAGGAG c.60
M L L P R S V S S E R A P G V P E P E E p.20
. . . . . . g.3285
CTGTGGGAGGCAGAGATGGAGCGGCTGCGCGGCTCTGGGACGCCCGTGCGCGGGCTGCCC c.120
L W E A E M E R L R G S G T P V R G L P p.40
. . | 03 . . . g.3489
TATGCCATGATGGACAAGCGCCTCATCTG | GCAGCTGCGGGAGCCCGCGGGGGTGCAGACC c.180
Y A M M D K R L I W | Q L R E P A G V Q T p.60
. . . . . . g.3549
TTGCGCTGGCAGCGGTGGCAGCGCCGGCGGCAGACGGTGGAAAGGCGCCTGCGGGAGGCA c.240
L R W Q R W Q R R R Q T V E R R L R E A p.80
. . . . . | 04 g.3937
GCGCAGCGGCTGGCCCGGGGCCTTGGGCTCTGGGAGGGGGCGCTCTACGAGATCGGGG | GC c.300
A Q R L A R G L G L W E G A L Y E I G G | p.100
. . . . . . g.3997
CTCTTCGGCACAGGAATTCGGTCCTACTTCACCTTCCTCCGCTTCCTGCTGCTACTCAAC c.360
L F G T G I R S Y F T F L R F L L L L N p.120
. . . . . . g.4057
CTGCTGAGCCTGCTGCTCACCGCAAGCTTCGTGCTGCTGCCCCTGGTCTGGCTCCGCCCC c.420
L L S L L L T A S F V L L P L V W L R P p.140
. . | 05 . . . g.4396
CCTGACCCAGGCCCCACCCTGAACTTGA | CCCTCCAGTGCCCTGGTAGCCGCCAGTCCCCG c.480
P D P G P T L N L T | L Q C P G S R Q S P p.160
. . . . . | 06 . g.4991
CCTGGCGTTTTGAGGTTCCACAATCAACTTTGGCATGTTTTGACTGGCAGG | GCCTTCACC c.540
P G V L R F H N Q L W H V L T G R | A F T p.180
. . . . . . g.5051
AACACCTATCTCTTCTACGGTGCGTACCGAGTGGGGCCGGAGAGCAGCTCCGTGTACAGC c.600
N T Y L F Y G A Y R V G P E S S S V Y S p.200
. . . . . . g.5111
ATCCGCCTGGCCTACCTCCTCAGCCCGCTGGCCTGCCTGCTCCTCTGCTTCTGTGGGACT c.660
I R L A Y L L S P L A C L L L C F C G T p.220
| 07 . . . . . g.5481
CTGCGGCG | GATGGTGAAGGGGCTGCCGCAGAAGACTCTGCTGGGTCAGGGCTATCAGGCG c.720
L R R | M V K G L P Q K T L L G Q G Y Q A p.240
. . . . . . g.5541
CCTCTCAGCGCCAAGGTCTTCTCCTCATGGGACTTCTGCATCCGGGTGCAGGAAGCAGCC c.780
P L S A K V F S S W D F C I R V Q E A A p.260
. . . | 08 . . . g.5994
ACCATCAAGAAGCATGAGATCAGCAACGAGTTCAAG | GTGGAGCTGGAGGAGGGCCGTCGC c.840
T I K K H E I S N E F K | V E L E E G R R p.280
. . . . . . g.6054
TTCCAGCTGATGCAGCAGCAGACCCGGGCCCAGACGGCCTGCCGCCTGCTCTCCTACCTG c.900
F Q L M Q Q Q T R A Q T A C R L L S Y L p.300
. . . . . . g.6114
CGGGTCAACGTACTCAACGGGCTCCTGGTGGTTGGGGCCATCAGCGCCATCTTCTGGGCT c.960
R V N V L N G L L V V G A I S A I F W A p.320
. . | 09. . . . g.6479
ACCAAGTACTCACAGGACAACAAGGAG | GAGTCCCTGTTTCTGCTGCTCCAGTACCTGCCC c.1020
T K Y S Q D N K E | E S L F L L L Q Y L P p.340
. . . . . . g.6539
CCTGGGGTCATCGCCCTGGTCAACTTCCTGGGTCCCCTGCTGTTCACATTTCTGGTCCAG c.1080
P G V I A L V N F L G P L L F T F L V Q p.360
. . . . | 10. . g.8824
CTGGAGAACTACCCTCCCAACACGGAGGTCAACCTCACTCTGATCTG | GTGCGTGGTGCTG c.1140
L E N Y P P N T E V N L T L I W | C V V L p.380
. . . . . . g.8884
AAGCTGGCCAGCTTGGGGATGTTCTCCGTCTCCCTGGGTCAGACCATACTGTGCATTGGC c.1200
K L A S L G M F S V S L G Q T I L C I G p.400
. . . . . | 11 . g.9302
AGAGACAAGAGCAGCTGTGAGTCCTACGGCTACAACGTTTGTGACTATCAG | TGCTGGGAG c.1260
R D K S S C E S Y G Y N V C D Y Q | C W E p.420
. . . . . . g.9362
AACTCCGTGGGGGAGGAGCTGTACAAGCTGAGTATCTTCAACTTCCTCCTCACCGTGGCC c.1320
N S V G E E L Y K L S I F N F L L T V A p.440
. . | 12 . . . g.9612
TTCGCCTTCCTGGTCACCCTGCCTCGGAG | GCTGCTGGTGGACCGGTTCTCAGGCCGGTTC c.1380
F A F L V T L P R R | L L V D R F S G R F p.460
. . . . . . g.9672
TGGGCCTGGCTGGAACGGGAGGAGTTCCTGGTCCCCAAGAATGTGCTGGACATCGTGGCG c.1440
W A W L E R E E F L V P K N V L D I V A p.480
. . . . . . g.9732
GGGCAGACGGTCACCTGGATGGGCCTCTTCTACTGCCCCCTGCTGCCCCTGCTGAATAGC c.1500
G Q T V T W M G L F Y C P L L P L L N S p.500
. . . | 13 . . . g.9952
GTCTTCCTCTTCCTCACCTTCTACATCAAGAAG | TACACCCTCCTGAAGAACTCCAGGGCA c.1560
V F L F L T F Y I K K | Y T L L K N S R A p.520
. . . . . . g.10012
TCTTCGCGGCCCTTCCGTGCCTCCAGCTCCACCTTCTTCTTCCAGCTAGTGCTCCTCCTG c.1620
S S R P F R A S S S T F F F Q L V L L L p.540
. . . . | 14 . . g.10166
GGCCTGCTTCTGGCTGCAGTGCCCCTGGGCTATGTGGTCAGCAG | CATCCACTCCTCCTGG c.1680
G L L L A A V P L G Y V V S S | I H S S W p.560
. . . . . . g.10226
GACTGCGGCCTCTTCACCAACTACTCAGCACCCTGGCAAGTGGTCCCGGAGCTGGTGGCC c.1740
D C G L F T N Y S A P W Q V V P E L V A p.580
. . . . . . g.10286
CTTGGGCTCCCGCCCATTGGCCAGCGTGCCCTCCACTACCTGGGCTCCCACGCCTTCAGC c.1800
L G L P P I G Q R A L H Y L G S H A F S p.600
. . | 15 . . . . g.10775
TTCCCCCTCCTCATCATGCTCAG | CCTTGTCCTGACGGTGTGCGTCTCCCAGACCCAGGCC c.1860
F P L L I M L S | L V L T V C V S Q T Q A p.620
. . . . | 16 . . g.12428
AATGCCAGGGCCATCCACAGGCTCCGGAAGCAGCTGGTGTGG | CAGGTTCAGGAGAAGTGG c.1920
N A R A I H R L R K Q L V W | Q V Q E K W p.640
. . . . . . g.12488
CACCTGGTGGAGGACCTGTCGCGACTGCTGCCGGAGCCAGGCCCGAGCGACTCTCCGGGC c.1980
H L V E D L S R L L P E P G P S D S P G p.660
. . . . . . g.12548
CCCAAGTACCCTGCCTCCCAAGCTTCGCGCCCGCAGTCCTTCTGCCCCGGATGCCCATGC c.2040
P K Y P A S Q A S R P Q S F C P G C P C p.680
. . . . . . g.12608
CCTGGCTCCCCGGGCCACCAGGCCCCGCGGCCGGGCCCCTCCGTCGTGGATGCCGCGGGA c.2100
P G S P G H Q A P R P G P S V V D A A G p.700
. . . . . . g.12668
CTGCGTTCCCCTTGCCCTGGACAGCACGGTGCCCCGGCCTCCGCCCGCAGATTCCGCTTC c.2160
L R S P C P G Q H G A P A S A R R F R F p.720
. . g.12689
CCCAGCGGCGCGGAGCTGTAA c.2181
P S G A E L X p.726
. . . . . . g.12749
cccctacccctgcctccccgaagcctccctggggccccttcaggcctccttactccatct c.*60
. . . . . . g.12809
tccagacccctggcgaccaccgcccctctcagtggctccagggcctccctcagaggtccc c.*120
. . . . . . g.12869
caaagatggacacacaaccccagcggcagcaggaaaaacatatgggaattttctttctat c.*180
. . . . . . g.12929
attttaatctcatccctttaaaatgtctattttttattgtgttttttataatatacataa c.*240
. . . . . . g.12989
tctattagtatagtatctcttgaatgcgattttttctagaatgtgttctgctgatttgtt c.*300
. . . . . . g.13049
ttagagccatgagtgcaatttatacacatacatctattgggaatgctcagaagttgttta c.*360
. . . . . . g.13109
ctgatggaagtgccttcagaagagtccgggaaccacttcctaaggaaggaaagagctggc c.*420
. . . . . . g.13169
cacagttagagcaagcctgcctggggccctgctctgtgttccagctgcaaactgcctgca c.*480
. . . . . . g.13229
tcatcccttcctgttactcttccttcacctgagacagtcgaggccacagcgtcagccagg c.*540
. . . . . . g.13289
gccagagctgggatttgaacccaggcactcgggctccagagccacactgccccagtgtgg c.*600
. . . . . . g.13349
ggcttagtggcggctcctggccctgactgaggggctgactgaagcctggtgagagcgtgc c.*660
. . . . . . g.13409
tgggtcagcctctccctggcgggaatcctctccgtccagtcttctaacctagcagcctca c.*720
. . . . . . g.13469
cgtccacagagctgccttgtgaaactcagcagagccctggcttcctgcagagccgtgttc c.*780
. . . . . . g.13529
tcccagcctgcttcatggctccctggttgagccaagcttgcggatccgtggggtgaaggt c.*840
. . . . . . g.13589
acccgcaccgcctgggccttagtggtatgtacgggcctgcatcgtgagcagcgggcgggg c.*900
. . . . . . g.13649
gcccaggcaggtgaggcagctggccacaagggcagggcccggcccccctcccaaggctgt c.*960
. . . . . . g.13709
gtctgatattcttgagcctgttcgagtttccttttccaagcctcctgttctcccaccccc c.*1020
. . . . . . g.13769
acccctgccatgctgcagtgactaaatctgtggttctcatccttggagaacacctgagta c.*1080
. . . . . . g.13829
gctgctacaagctggccacagcccagcgactctgatgtggttgggctgggtgtggccagc c.*1140
. . . . . . g.13889
agccagggcatcgggacttttcgaagctcccaggtgactcaccggcagctggggatgaga c.*1200
. . . . . . g.13949
actgtcaggagggaaggtcagaagtcccaggatgcacttgaaaagcctctagctccacca c.*1260
. . . . . . g.14009
gtgaccagctcctggctggactcctggtctggactcagcatcagggaggctctggcctct c.*1320
. . . . . . g.14069
cgccctcagggctgggggcttcttcacatggtcatcaaagacttggccagttccgcctct c.*1380
. . . . . . g.14129
cccacggccgtccttgtctcacccagcatcacgacgcatcagttcaccaacaaacacgat c.*1440
. . . . . . g.14189
tcagtgctgctagtgctgggtcctgttctgggggctggtgatgaggccaagagggaaaga c.*1500
. . . . . . g.14249
gggagctctgtgttccatcgagggggcgacaagcctggaccagatgaaagtgactcatgt c.*1560
. . . . . . g.14309
tgttaattagcggcttagggccaaaggtggcccctggaccagtggcctcagcatcacctg c.*1620
. . . . . . g.14369
ggaaaaggttagaaatgaacattcccaggccccacctcagcctcctgaatcagagcatcc c.*1680
. . . . . . g.14429
ctttggcaaaccatactgagaaacaaccacgtgcatcaccaagcgctgtgaagaaggcaa c.*1740
. . . . . . g.14489
gctttgagaccttgaaggaatcatcaaactctgggcctcggtgtgctcacccagggcgag c.*1800
. . . . . g.14545
acaaagacgccatgctcctccaagtggcctccaagattaaatgagcaatgactttt c.*1856
(downstream sequence)
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