(used for variant description)
(last modified April 26, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_153676.3 in the USH1C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering USH1C transcript NM_153676.3.
(upstream sequence)
. . . . g.5049
agctccgagggcggctggcccggtcgcggtcgcggctctttccagctcc c.-61
. . . . . . g.5109
tggcagccgggcacccgaaggaacgggtcgtgcaacgacgcagctggacctggcccagcc c.-1
. . . | 02 . . . g.16118
ATGGACCGAAAAGTGGCCCGAGAATTCCGGCATAAG | GTGGATTTTCTGATTGAAAATGAT c.60
M D R K V A R E F R H K | V D F L I E N D p.20
. . . . | 03 . . g.17890
GCAGAGAAGGACTATCTCTATGATGTGCTGCGAATGTACCACCA | GACCATGGACGTGGCC c.120
A E K D Y L Y D V L R M Y H Q | T M D V A p.40
. . . . . . g.17950
GTGCTCGTGGGAGACCTGAAGCTGGTCATCAATGAACCCAGCCGTCTGCCTCTGTTTGAT c.180
V L V G D L K L V I N E P S R L P L F D p.60
. . . . . . g.18010
GCCATTCGGCCGCTGATCCCACTGAAGCACCAGGTGGAATATGATCAGCTGACCCCCCGG c.240
A I R P L I P L K H Q V E Y D Q L T P R p.80
| 04 . . . . . g.18176
CGCTCCAG | GAAGCTGAAGGAGGTGCGTCTGGACCGTCTGCACCCCGAAGGCCTCGGCCTG c.300
R S R | K L K E V R L D R L H P E G L G L p.100
. . . . . . g.18236
AGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTTCATCTCCCACCTCATCAAAGGC c.360
S V R G G L E F G C G L F I S H L I K G p.120
. . | 05. . . . g.22118
GGTCAGGCAGACAGCGTCGGGCTCCAG | GTAGGGGACGAGATCGTCCGGATCAATGGATAT c.420
G Q A D S V G L Q | V G D E I V R I N G Y p.140
. . . . . . g.22178
TCCATCTCCTCCTGTACCCATGAGGAGGTCATCAACCTCATTCGAACCAAGAAAACTGTG c.480
S I S S C T H E E V I N L I R T K K T V p.160
. | 06 . . . | 07 . . g.22625
TCCATCAAAGTGAGAC | ACATCGGCCTGATCCCCGTGAAAAG | CTCTCCTGATGAGCCCCTC c.540
S I K V R H | I G L I P V K S | S P D E P L p.180
. . . | 08 . . g.22996
ACTTGGCAGTATGTGGATCAGTTTGTGTCGGAATCTGGG | GGCGTGCGAGGCAGCCTGGGC c.600
T W Q Y V D Q F V S E S G | G V R G S L G p.200
. . . . . . g.23056
TCCCCTGGAAATCGGGAAAACAAGGAGAAGAAGGTCTTCATCAGCCTGGTAGGCTCCCGA c.660
S P G N R E N K E K K V F I S L V G S R p.220
. | 09 . . . . . g.24927
GGCCTTGGCTGCAG | CATTTCCAGCGGCCCCATCCAGAAGCCTGGCATCTTTATCAGCCAT c.720
G L G C S | I S S G P I Q K P G I F I S H p.240
. . . | 10 . . g.25959
GTGAAACCTGGCTCCCTGTCTGCTGAGGTGGGATTGGAG | ATAGGGGACCAGATTGTCGAA c.780
V K P G S L S A E V G L E | I G D Q I V E p.260
. . . | 11 . . g.26170
GTCAATGGCGTCGACTTCTCTAACCTGGATCACAAGGAG | GCTGTAAATGTGCTGAAGAGT c.840
V N G V D F S N L D H K E | A V N V L K S p.280
. . . | 12 . . . g.26514
AGCCGCAGCCTGACCATCTCCATTGTAGCTGCAGCT | GGCCGGGAGCTGTTCATGACAGAC c.900
S R S L T I S I V A A A | G R E L F M T D p.300
. . . . . . g.26574
CGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTCATGCAG c.960
R E R L A E A R Q R E L Q R Q E L L M Q p.320
. . . . . | 13 g.28006
AAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCA | A c.1020
K R L A M E S N K I L Q E Q Q E M E R Q | p.340
. . . . . . g.28066
AGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGAGAGATACCGGAAGGAGATG c.1080
R R K E I A Q K A A E E N E R Y R K E M p.360
| 14 . . . . . . g.28477
GAACA | GATTGTAGAGGAGGAAGAGAAGTTTAAGAAGCAATGGGAAGAAGACTGGGGCTCA c.1140
E Q | I V E E E E K F K K Q W E E D W G S p.380
. . . . . . g.28537
AAGGAACAGCTACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTCGC c.1200
K E Q L L L P K T I T A E V H P V P L R p.400
. | 15 . . . . . g.33176
AAGCCAAAGT | CTTTTGGATGGTTTTATCGTTACGATGGCAAATTCCCAACCATCCGGAAG c.1260
K P K S | F G W F Y R Y D G K F P T I R K p.420
| 16 . . . . . . g.37422
| AAAGGAAAAGATAAGAAGAAAGCCAAGTATGGCAGCCTGCAGGACTTGAGAAAGAATAAG c.1320
| K G K D K K K A K Y G S L Q D L R K N K p.440
. . . . . . g.37482
AAAGAACTGGAGTTTGAGCAAAAGCTTTACAAAGAGAAAGAGGAAATGCTGGAGAAGGAA c.1380
K E L E F E Q K L Y K E K E E M L E K E p.460
. . . | 17 . . . g.38922
AAGCAGCTAAAGATCAACCGGCTGGCCCAGGAG | GTGTCTGAGACAGAGCGGGAAGACCTT c.1440
K Q L K I N R L A Q E | V S E T E R E D L p.480
. . . . . . g.38982
GAAGAATCGGAAAAGATTCAATATTGGGTGGAGAGGCTCTGTCAAACGCGCCTCGAGCAG c.1500
E E S E K I Q Y W V E R L C Q T R L E Q p.500
. . . | 18 . . . g.39608
ATTTCCTCTGCTGATAATGAGATTTCAGAG | ATGACCACAGGGCCCCCGCCTCCCCCGCCT c.1560
I S S A D N E I S E | M T T G P P P P P P p.520
. . . . . . g.39668
TCTGTGTCTCCCCTGGCCCCACCCTTGAGACGCTTCGCAGGCGGACTGCACCTGCACACC c.1620
S V S P L A P P L R R F A G G L H L H T p.540
. . . . . . g.39728
ACTGACCTGGACGACATCCCTTTGGACATGTTCTACTATCCCCCCAAGACTCCCTCTGCC c.1680
T D L D D I P L D M F Y Y P P K T P S A p.560
. . . . . . g.39788
TTGCCTGTGATGCCCCACCCTCCACCCTCCAACCCACCCCACAAGGTCCCGGCGCCCCCT c.1740
L P V M P H P P P S N P P H K V P A P P p.580
. . . . . . g.39848
GTCCTTCCCTTATCTGGCCATGTGAGCGCCTCATCCTCTCCATGGGTGCAGCGCACTCCA c.1800
V L P L S G H V S A S S S P W V Q R T P p.600
. . . . . . g.39908
CCCCCCATTCCCATCCCTCCCCCGCCATCCGTTCCCACCCAAGACCTCACTCCCACCCGC c.1860
P P I P I P P P P S V P T Q D L T P T R p.620
. . . . . . g.39968
CCACTGCCCTCGGCGCTGGAAGAAGCACTGAGCAACCATCCCTTCCGCACTGGGGACACA c.1920
P L P S A L E E A L S N H P F R T G D T p.640
. . . . . . g.40028
GGCAATCCAGTGGAGGACTGGGAGGCAAAGAACCACAGTGGGAAGCCCACTAACTCCCCT c.1980
G N P V E D W E A K N H S G K P T N S P p.660
. . . | 19 . . . g.43494
GTCCCTGAACAGAGCTTCCCACCCACCCCAAAG | ACATTTTGCCCAAGCCCACAGCCTCCA c.2040
V P E Q S F P P T P K | T F C P S P Q P P p.680
. . . . . . g.43554
CGAGGCCCTGGCGTGTCCACCATCTCCAAACCTGTCATGGTCCACCAGGAGCCCAATTTC c.2100
R G P G V S T I S K P V M V H Q E P N F p.700
. . . | 20 . . . g.44746
ATCTACAGGCCAGCTGTGAAATCTGAAGTTCTG | CCACAGGAGATGTTGAAGAGGATGGTG c.2160
I Y R P A V K S E V L | P Q E M L K R M V p.720
. . | 21 . . . . g.47472
GTTTATCAGACAGCATTCAGACAA | GATTTCCGGAAATATGAGGAAGGCTTTGACCCCTAC c.2220
V Y Q T A F R Q | D F R K Y E E G F D P Y p.740
| 22 . . . . . . g.47935
TCTATG | TTCACCCCAGAGCAGATCATGGGGAAGGATGTCCGGCTCCTACGCATCAAGAAG c.2280
S M | F T P E Q I M G K D V R L L R I K K p.760
| 23 . . . . . . g.48326
| GAGGGATCCTTAGACCTGGCCCTGGAAGGCGGTGTGGACTCCCCCATTGGGAAGGTGGTC c.2340
| E G S L D L A L E G G V D S P I G K V V p.780
. . . . | 24 . . g.51165
GTTTCTGCTGTGTATGAGCGGGGAGCTGCTGAGCGGCATG | GTGGCATTGTGAAAGGGGAC c.2400
V S A V Y E R G A A E R H G | G I V K G D p.800
. . . . . . g.51225
GAGATCATGGCAATCAACGGCAAGATTGTGACAGACTACACCCTGGCTGAGGCTGAGGCT c.2460
E I M A I N G K I V T D Y T L A E A E A p.820
. . . | 25 . . . g.52633
GCCCTGCAGAAGGCCTGGAATCAGGGCGGG | GACTGGATCGACCTTGTGGTTGCCGTCTGC c.2520
A L Q K A W N Q G G | D W I D L V V A V C p.840
. . | 26 . . . . g.53773
CCCCCAAAGGAGTATGACGATGAGCT | AGCTTCTCTTCCCTCCTCCGTAGCTGAAAGCCCC c.2580
P P K E Y D D E L | A S L P S S V A E S P p.860
. . . . . . g.53833
CAACCGGTCCGAAAGCTCCTTGAAGACCGTGCTGCCGTGCACAGACACGGGTTCCTCCTG c.2640
Q P V R K L L E D R A A V H R H G F L L p.880
. | 27 . . . . . g.55085
CAGCTGGAGCCCACG | GACCTTCTTCTGAAGTCCAAAAGGGGAAACCAAATTCACCGTTAG c.2700
Q L E P T | D L L L K S K R G N Q I H R X p.899
. . . . . . g.55145
gaaacagtgagctccggccccacctcgtgaacacaaagcctcggatcagccttgagagag c.*60
. . . . . . g.55205
gccacactacacacaccagatggcatccttgggacctgaatctatcacccaggaatctca c.*120
. . . . . . g.55265
aactccctttggccctgaaccagggccagataaggaacagctcgggccactcttctgaag c.*180
. . . . . . g.55325
gccaacgtggaggaaagggagcagccagccatttgggagaagatctcaaggatccagact c.*240
. . . . . . g.55385
ctcattcctttcctctggcccagtgaatttggtctctcccagctctgggggactccttcc c.*300
. . . . . . g.55445
ttgaaccctaataagaccccactggagtctctctctctccatccctctcctctgccctct c.*360
. . . . . . g.55505
gctctaattgctgccaggattgtcactccaaaccttactctgagctcattaataaaatag c.*420
. g.55522
atttattttccagctta c.*437
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26
©2004-2021 Leiden University Medical Center