(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000539.3 in the RHO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009115.1, covering RHO transcript NM_000539.3.
(upstream sequence)
. . . g.5035
agagtcatccagctggagccctgagtggctgagct c.-61
. . . . . . g.5095
caggccttcgcagcattcttgggtgggagcagccacgggtcagccacaagggccacagcc c.-1
. . . . . . g.5155
ATGAATGGCACAGAAGGCCCTAACTTCTACGTGCCCTTCTCCAATGCGACGGGTGTGGTA c.60
M N G T E G P N F Y V P F S N A T G V V p.20
. . . . . . g.5215
CGCAGCCCCTTCGAGTACCCACAGTACTACCTGGCTGAGCCATGGCAGTTCTCCATGCTG c.120
R S P F E Y P Q Y Y L A E P W Q F S M L p.40
. . . . . . g.5275
GCCGCCTACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTAC c.180
A A Y M F L L I V L G F P I N F L T L Y p.60
. . . . . . g.5335
GTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCC c.240
V T V Q H K K L R T P L N Y I L L N L A p.80
. . . . . . g.5395
GTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCAT c.300
V A D L F M V L G G F T S T L Y T S L H p.100
. . . . . . g.5455
GGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGC c.360
G Y F V F G P T G C N L E G F F A T L G p.120
| 02 . . . . . . g.7296
G | GTGAAATTGCCCTGTGGTCCTTGGTGGTCCTGGCCATCGAGCGGTACGTGGTGGTGTGT c.420
G | E I A L W S L V V L A I E R Y V V V C p.140
. . . . . . g.7356
AAGCCCATGAGCAACTTCCGCTTCGGGGAGAACCATGCCATCATGGGCGTTGCCTTCACC c.480
K P M S N F R F G E N H A I M G V A F T p.160
. . . . . | 03 . g.8622
TGGGTCATGGCGCTGGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAG | GTACATCCCC c.540
W V M A L A C A A P P L A G W S R | Y I P p.180
. . . . . . g.8682
GAGGGCCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAAC c.600
E G L Q C S C G I D Y Y T L K P E V N N p.200
. . . . . . g.8742
GAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCACCATCCCCATGATTATCATCTTT c.660
E S F V I Y M F V V H F T I P M I I I F p.220
. . . | 04 . . . g.8918
TTCTGCTATGGGCAGCTCGTCTTCACCGTCAAGGAG | GCCGCTGCCCAGCAGCAGGAGTCA c.720
F C Y G Q L V F T V K E | A A A Q Q Q E S p.240
. . . . . . g.8978
GCCACCACACAGAAGGCAGAGAAGGAGGTCACCCGCATGGTCATCATCATGGTCATCGCT c.780
A T T Q K A E K E V T R M V I I M V I A p.260
. . . . . . g.9038
TTCCTGATCTGCTGGGTGCCCTACGCCAGCGTGGCATTCTACATCTTCACCCACCAGGGC c.840
F L I C W V P Y A S V A F Y I F T H Q G p.280
. . . . . . g.9098
TCCAACTTCGGTCCCATCTTCATGACCATCCCAGCGTTCTTTGCCAAGAGCGCCGCCATC c.900
S N F G P I F M T I P A F F A K S A A I p.300
. . . | 05 . . . g.9993
TACAACCCTGTCATCTATATCATGATGAACAAGCAG | TTCCGGAACTGCATGCTCACCACC c.960
Y N P V I Y I M M N K Q | F R N C M L T T p.320
. . . . . . g.10053
ATCTGCTGCGGCAAGAACCCACTGGGTGACGATGAGGCCTCTGCTACCGTGTCCAAGACG c.1020
I C C G K N P L G D D E A S A T V S K T p.340
. . g.10080
GAGACGAGCCAGGTGGCCCCGGCCTAA c.1047
E T S Q V A P A X p.348
. . . . . . g.10140
gacctgcctaggactctgtggccgactataggcgtctcccatcccctacaccttccccca c.*60
. . . . . . g.10200
gccacagccatcccaccaggagcagcgcctgtgcagaatgaacgaagtcacataggctcc c.*120
. . . . . . g.10260
ttaattttttttttttttttaagaaataattaatgaggctcctcactcacctgggacagc c.*180
. . . . . . g.10320
ctgagaagggacatccaccaagacctactgatctggagtcccacgttccccaaggccagc c.*240
. . . . . . g.10380
gggatgtgtgcccctcctcctcccaactcatctttcaggaacacgaggattcttgctttc c.*300
. . . . . . g.10440
tggaaaagtgtcccagcttagggataagtgtctagcacagaatggggcacacagtaggtg c.*360
. . . . . . g.10500
cttaataaatgctggatggatgcaggaaggaatggaggaatgaatgggaagggagaacat c.*420
. . . . . . g.10560
atctatcctctcagaccctcgcagcagcagcaactcatacttggctaatgatatggagca c.*480
. . . . . . g.10620
gttgtttttccctccctgggcctcactttcttctcctataaaatggaaatcccagatccc c.*540
. . . . . . g.10680
tggtcctgccgacacgcagctactgagaagaccaaaagaggtgtgtgtgtgtctatgtgt c.*600
. . . . . . g.10740
gtgtttcagcactttgtaaatagcaagaagctgtacagattctagttaatgttgtgaata c.*660
. . . . . . g.10800
acatcaattaatgtaactagttaattactatgattatcacctcctgatagtgaacatttt c.*720
. . . . . . g.10860
gagattgggcattcagatgatggggtttcacccaaccttggggcaggtttttaaaaatta c.*780
. . . . . . g.10920
gctaggcatcaaggccagaccagggctgggggttgggctgtaggcagggacagtcacagg c.*840
. . . . . . g.10980
aatgcagaatgcagtcatcagacctgaaaaaacaacactgggggagggggacggtgaagg c.*900
. . . . . . g.11040
ccaagttcccaatgagggtgagattgggcctggggtctcacccctagtgtggggccccag c.*960
. . . . . . g.11100
gtcccgtgcctccccttcccaatgtggcctatggagagacaggcctttctctcagcctct c.*1020
. . . . . . g.11160
ggaagccacctgctcttttgctctagcacctgggtcccagcatctagagcatggagcctc c.*1080
. . . . . . g.11220
tagaagccatgctcacccgcccacatttaattaacagctgagtccctgatgtcatcctta c.*1140
. . . . . . g.11280
tctcgaagagcttagaaacaaagagtgggaaattccactgggcctaccttccttggggat c.*1200
. . . . . . g.11340
gttcatgggccccagtttccagtttcccttgccagacaagcccatcttcagcagttgcta c.*1260
. . . . . . g.11400
gtccattctccattctggagaatctgctccaaaaagctggccacatctctgaggtgtcag c.*1320
. . . . . . g.11460
aattaagctgcctcagtaactgctcccccttctccatataagcaaagccagaagctctag c.*1380
. . . . . . g.11520
ctttacccagctctgcctggagactaaggcaaattgggccattaaaagctcagctcctat c.*1440
. . . . . . g.11580
gttggtattaacggtggtgggttttgttgctttcacactctatccacaggatagattgaa c.*1500
. . . . . . g.11640
actgccagcttccacctgatccctgaccctgggatggctggattgagcaatgagcagagc c.*1560
. . . . . . g.11700
caagcagcacagagtcccctggggctagaggtggaggaggcagtcctgggaatgggaaaa c.*1620
g.11706
acccca c.*1626
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center