(used for variant description)
(last modified April 2, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_173477.2 in the USH1G gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007882.1, covering USH1G transcript NM_173477.2.
(upstream sequence)
g.5003
cag c.-181
. . . . . . g.5063
atgtcttggtagtcgcggctctggcgctccgcaccctccgtctgcggcagcgggggctgg c.-121
. . . . . . g.5123
cggccccggcccctgcccggccccgtcctccaacctcatgcctcagccctaataccgccg c.-61
. . . . . . g.5183
ccctcccctgcggggggcctttctccgtgtcccccgcccgccccgtccacttcgggcgcc c.-1
. . . . . . g.5243
ATGAACGACCAGTACCACCGGGCAGCCCGGGATGGCTACCTGGAGCTCCTCAAGGAGGCC c.60
M N D Q Y H R A A R D G Y L E L L K E A p.20
. . . . . . g.5303
ACCCGAAAGGAGCTGAATGCCCCCGACGAGGATGGCATGACCCCCACTCTCTGGGCTGCC c.120
T R K E L N A P D E D G M T P T L W A A p.40
. . . . | 02 . . g.7601
TACCATGGCAACCTCGAGTCGCTGCGTCTCATTGTGAGCCGCGG | GGGTGACCCGGACAAG c.180
Y H G N L E S L R L I V S R G | G D P D K p.60
. . . . . . g.7661
TGTGACATCTGGGGCAACACACCCCTGCATCTGGCAGCTTCCAATGGCCACTTGCACTGC c.240
C D I W G N T P L H L A A S N G H L H C p.80
. . . . . . g.7721
CTGTCCTTCCTGGTGTCCTTCGGAGCCAACATCTGGTGCCTAGACAACGACTACCACACG c.300
L S F L V S F G A N I W C L D N D Y H T p.100
. . . . . . g.7781
CCGCTGGACATGGCTGCCATGAAGGGCCACATGGAATGCGTGCGCTACCTGGACTCCATC c.360
P L D M A A M K G H M E C V R Y L D S I p.120
. . . . . . g.7841
GCGGCCAAGCAGAGCAGCCTCAACCCCAAGCTGGTGGGTAAGCTGAAGGACAAGGCCTTC c.420
A A K Q S S L N P K L V G K L K D K A F p.140
. . . . . . g.7901
CGCGAGGCGGAGCGGCGCATCCGCGAGTGCGCCAAGCTGCAGCGGAGGCACCACGAACGC c.480
R E A E R R I R E C A K L Q R R H H E R p.160
. . . . . . g.7961
ATGGAGCGGCGATACCGGCGCGAGCTGGCCGAGCGTTCCGACACCCTCAGCTTCTCCAGC c.540
M E R R Y R R E L A E R S D T L S F S S p.180
. . . . . . g.8021
CTCACGTCCAGCACCCTGAGCCGCCGGCTGCAGCATCTGGCGCTGGGCAGCCACCTGCCG c.600
L T S S T L S R R L Q H L A L G S H L P p.200
. . . . . . g.8081
TACTCTCAGGCCACGCTGCACGGCACGGCCAGGGGCAAGACCAAGATGCAGAAGAAGCTG c.660
Y S Q A T L H G T A R G K T K M Q K K L p.220
. . . . . . g.8141
GAGCGGCGCAAGCAGGGCGGCGAAGGCACCTTCAAGGTCTCCGAGGATGGGCGCAAGAGC c.720
E R R K Q G G E G T F K V S E D G R K S p.240
. . . . . . g.8201
GCCCGCTCGCTCTCGGGCCTGCAGCTGGGCAGCGACGTGATGTTCGTGCGCCAGGGCACC c.780
A R S L S G L Q L G S D V M F V R Q G T p.260
. . . . . . g.8261
TACGCCAATCCCAAGGAGTGGGGCCGAGCCCCGCTCCGGGACATGTTCCTCTCGGACGAG c.840
Y A N P K E W G R A P L R D M F L S D E p.280
. . . . . . g.8321
GACAGCGTCTCCCGTGCCACGCTGGCGGCCGAGCCTGCCCACTCGGAGGTCAGCACCGAC c.900
D S V S R A T L A A E P A H S E V S T D p.300
. . . . . . g.8381
TCAGGCCACGACTCCCTGTTTACCCGCCCCGGCCTGGGCACCATGGTGTTCCGCAGAAAT c.960
S G H D S L F T R P G L G T M V F R R N p.320
. . . . . . g.8441
TACTTGAGCAGTGGGCTGCACGGACTGGGCCGCGAGGATGGGGGTCTGGATGGGGTGGGA c.1020
Y L S S G L H G L G R E D G G L D G V G p.340
. . . . . . g.8501
GCGCCGCGGGGTCGGCTGCAGAGCTCCCCCAGCCTGGACGATGACAGCCTGGGCAGTGCC c.1080
A P R G R L Q S S P S L D D D S L G S A p.360
. . . . . . g.8561
AACAGCCTGCAGGACCGCAGCTGTGGGGAGGAGCTGCCCTGGGATGAGCTCGATTTAGGC c.1140
N S L Q D R S C G E E L P W D E L D L G p.380
. . . . . . g.8621
TTGGACGAGGACCTGGAGCCCGAGACTAGCCCGCTGGAGACCTTCCTGGCCTCTCTGCAC c.1200
L D E D L E P E T S P L E T F L A S L H p.400
. . . . . . g.8681
ATGGAGGACTTTGCCGCCCTCCTGCGGCAGGAGAAGATCGACCTCGAGGCTTTGATGCTG c.1260
M E D F A A L L R Q E K I D L E A L M L p.420
. . . . . . g.8741
TGCTCTGACCTCGACCTCCGCAGCATCAGCGTCCCACTGGGGCCCCGAAAGAAGATCTTG c.1320
C S D L D L R S I S V P L G P R K K I L p.440
. . . . . . g.8801
GGGGCCGTGAGGAGGCGGCGGCAGGCGATGGAGCGCCCGCCGGCCCTGGAGGACACAGAG c.1380
G A V R R R R Q A M E R P P A L E D T E p.460
| 03 g.10238
CT | ATAA c.1386
L | X p.461
. . . . . . g.10298
ccgggggctcctctccccagaccaaaatgaattgcaagttgccacaacctatggtggggt c.*60
. . . . . . g.10358
ctcgaggtcctcacagttgccagccctgcagcccccttccccaggagcaaggaccagttg c.*120
. . . . . . g.10418
gggcgactcctttgaaagtctgtctgcaccttgaagctgagggtgtggcctggaggcacc c.*180
. . . . . . g.10478
agaggggcaagagaatgttccggaactccagttctgaggggtcttgaaggccctgagcca c.*240
. . . . . . g.10538
cccattctgagcagccgtaaaggacatgtagacttgggggaggcctgccccagagggagg c.*300
. . . . . . g.10598
gcaggggcatcggaactggatgagagtgtgggaggtggatgcgggagggtgcacctgtcc c.*360
. . . . . . g.10658
cgggcgccgtaggcctctcccacccctcccctgatggtcttgttctcttgtgctcaggcc c.*420
. . . . . . g.10718
agagacttgctcacttcctgcattgttgtgaagggaagagtttgggctgcctcccctcct c.*480
. . . . . . g.10778
cccgtccaccccagaggggaagttcctcagccagactcttcagccaaatgccccaacttt c.*540
. . . . . . g.10838
cagtctgtaccccatcccaagcatagccagctccccctccttcacctagtggtcaaggcc c.*600
. . . . . . g.10898
cggagctggaaagccgggttggggtggggtgggggtactgacgcccttcccagctcatcc c.*660
. . . . . . g.10958
aggggtggagcctggcctgtcttcctccaacctccccctttttcgttgtgcagcctggcc c.*720
. . . . . . g.11018
ccccagggaccccagagggccagggcgctagatgcaaggtgctagaccaatgggctgcag c.*780
. . . . . . g.11078
tattatagcccccaggcctggcaggcatgcgctgggctagagaaaggtgtccgccaacct c.*840
. . . . . . g.11138
cctcagtctcccaggcctgggacaggcagaacagggtgtggctgggtgtcaggcctgggg c.*900
. . . . . . g.11198
tgggtaagtcctgcgatgtggacactggagaaagtggatcctctaaactgcagattgtcc c.*960
. . . . . . g.11258
ccaggtcaccagggctgtgtgcgtgtgcatgtttgtgtgcatgtatgcgtgtgtgcatgc c.*1020
. . . . . . g.11318
atgtgtgtgtaagtatgtggtatgtgtgagcacgggtgtgtgcttgggtgtgtgtgtgtt c.*1080
. . . . . . g.11378
cttgcatacatgtgtacgtgtgtgtgcacgtgaacgcgtgcgtgtttgtgtgtgtgcatg c.*1140
. . . . . . g.11438
catgtgtgtgcatgtgtgtgtgtgcatgcatgtgtgtgtgtgtgcatgtgtgcgtgtgtg c.*1200
. . . . . . g.11498
cacactcacgttgggtggtgtttggtaggtttccctccaggtctggtagggactgggctg c.*1260
. . . . . . g.11558
ttgcgtgattctgcgtggatcgggggtaagagagctcacctgtgtcccagccctctgatg c.*1320
. . . . . . g.11618
gtggtgagaccaggggaaaggccagctcagagggtggtcacagcatgtgtcctctgacgt c.*1380
. . . . . . g.11678
atgcccccaaagctctccagccagactgaggtcacagatgtgggagagtccctgatgagc c.*1440
. . . . . . g.11738
ccgctgacacgtgtgcgcccctttgcaccccatgcagaggtgctctcctcctttctcagc c.*1500
. . . . . . g.11798
catggccccccatccctgacctcagcttgggaagcagctcctgctgggagcatggcctca c.*1560
. . . . . . g.11858
gcccccagcatctcctggggcccccatggctggggcaggggaaagagagccctcaaaggc c.*1620
. . . . . . g.11918
ctctttctggtctgtctgggggttcccattcccacacatgtgcccagagtagggggcatg c.*1680
. . . . . . g.11978
gaggagatggtccctgtcctactgcaggacactgagggcttggctgcctgccaccgccat c.*1740
. . . . . . g.12038
ctggagcccaccacagctcttctccctgttctctgggcctgagcctggggccacccccaa c.*1800
. . . . . . g.12098
gtgccgacttgtttctcccagagccccaggtgctgccccttctctcctgttcctcgtccg c.*1860
. . . . . . g.12158
tttactgccgcagcccctcctggttcttctggtgctggggtggagcaggctctgtgctcc c.*1920
. . . . . . g.12218
caccactgtaccccgaatccctcctgcaggctcattgccacttttgtagagaatgttctc c.*1980
. g.12230
tatcagtatcgt c.*1992
(downstream sequence)
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