(used for variant description)
(last modified December 31, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_017909.3 in the RMND1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033031.1, covering RMND1 transcript NM_017909.3.
(upstream sequence)
. . . . . . g.5060
ggaccagagttcagtgcggctgcgcagtagcgggggtgggcgggagcgcccttccaggag c.-121
. . . . . . g.5120
atgggttggctgcagtagtgagaggctgggggtgcggctctttccctgcagtcctgccga c.-61
. . . . . | 02 . g.11370
ggaagcgtgcgtccctggcgcttccttcttctcttccggcggagag | cttgggatgtggta c.-1
. . . . . . g.11430
ATGCCAGCCACACTCCTCAGAGCCGTGGCCAGATCTCATCATATATTATCAAAAGCACAT c.60
M P A T L L R A V A R S H H I L S K A H p.20
. . . . . . g.11490
CAGTGCCGAAGAATCGGTCATCTAATGTTAAAACCACTTAAGGAATTTGAAAATACAACA c.120
Q C R R I G H L M L K P L K E F E N T T p.40
. . . . . . g.11550
TGCAGCACACTGACAATACGTCAAAGCTTGGATTTGTTCCTTCCTGATAAAACAGCTAGT c.180
C S T L T I R Q S L D L F L P D K T A S p.60
. . . . . . g.11610
GGTTTGAATAAGTCTCAGATCCTGGAAATGAACCAAAAAAAGTCAGATACCAGCATGCTG c.240
G L N K S Q I L E M N Q K K S D T S M L p.80
. . . . . . g.11670
TCTCCATTAAATGCTGCTCGTTGCCAAGATGAAAAGGCACACCTTCCAACCATGAAATCC c.300
S P L N A A R C Q D E K A H L P T M K S p.100
. . . . . . g.11730
TTTGGTACTCACAGGAGAGTGACCCACAAACCAAATCTGTTGGGTTCTAAATGGTTTATA c.360
F G T H R R V T H K P N L L G S K W F I p.120
. . . . . . g.11790
AAAATATTAAAGAGGCATTTCTCATCTGTATCAACGGAAACATTTGTTCCAAAACAAGAC c.420
K I L K R H F S S V S T E T F V P K Q D p.140
. . . . . . g.11850
TTCCCACAGGTGAAGAGACCACTAAAAGCATCCAGGACCAGACAGCCATCCAGGACCAAC c.480
F P Q V K R P L K A S R T R Q P S R T N p.160
. . | 03 . . . . g.20663
CTTCCAGTTCTGTCTGTGAACGAG | GACCTAATGCACTGCACAGCATTTGCAACGGCAGAT c.540
L P V L S V N E | D L M H C T A F A T A D p.180
. . . . . . g.20723
GAGTATCATCTGGGAAATCTGTCTCAAGATCTGGCCTCCCACGGATATGTTGAAGTAACA c.600
E Y H L G N L S Q D L A S H G Y V E V T p.200
. | 04 . . . . . g.23998
AGCTTGCCTAGAG | ATGCAGCAAATATTTTGGTGATGGGTGTGGAAAATTCTGCAAAAGAA c.660
S L P R D | A A N I L V M G V E N S A K E p.220
. . | 05 . . . g.27035
GGTGATCCTGGAACAATATTCTTCTTCAG | GGAAGGAGCTGCTGTGTTTTGGAATGTGAAA c.720
G D P G T I F F F R | E G A A V F W N V K p.240
| 06 . . . . . g.29650
GACAAAACT | ATGAAGCATGTGATGAAAGTTCTAGAAAAACATGAAATTCAGCCCTATGAA c.780
D K T | M K H V M K V L E K H E I Q P Y E p.260
. . . . . | 07 . g.33560
ATCGCACTGGTACACTGGGAAAATGAAGAACTTAACTACATAAAAATAGA | GGGACAGTCA c.840
I A L V H W E N E E L N Y I K I E | G Q S p.280
. . . . . . g.33620
AAACTTCACAGGGGGGAAATCAAGTTAAATTCAGAGCTGGATTTAGATGATGCCATTCTA c.900
K L H R G E I K L N S E L D L D D A I L p.300
. . . | 08. . . g.34599
GAGAAGTTTGCTTTCTCCAATGCTCTATGCCTTTCTG | TAAAACTGGCAATTTGGGAAGCA c.960
E K F A F S N A L C L S V | K L A I W E A p.320
. . . . | 09 . . g.35878
TCACTGGATAAATTTATTGAATCTATTCAGTCAATTCCTGAG | GCTTTAAAAGCTGGGAAG c.1020
S L D K F I E S I Q S I P E | A L K A G K p.340
. . . . . | 10 g.39783
AAAGTGAAACTATCTCATGAAGAAGTTATGCAGAAAATCGGTGAACTCTTTGCTCTAAG | G c.1080
K V K L S H E E V M Q K I G E L F A L R | p.360
. . . . . . g.39843
CACCGTATAAACTTGAGTTCAGACTTCCTGATTACTCCTGATTTCTACTGGGACAGAGAA c.1140
H R I N L S S D F L I T P D F Y W D R E p.380
. . . . . . g.39903
AACCTGGAAGGACTTTACGATAAAACGTGTCAATTCCTTAGCATTGGCCGAAGAGTTAAG c.1200
N L E G L Y D K T C Q F L S I G R R V K p.400
| 11 . . . . . . g.51405
| GTCATGAATGAAAAACTTCAGCACTGCATGGAACTAACAGATCTAATGCGGAATCACCTG c.1260
| V M N E K L Q H C M E L T D L M R N H L p.420
. . . . . | 12. g.51917
AATGAGAAGAGGGCACTCCGCTTGGAGTGGATGATTGTCATCCTCATTACCATAGAG | GTA c.1320
N E K R A L R L E W M I V I L I T I E | V p.440
. . . g.51947
ATGTTTGAGCTGGGACGAGTATTTTTCTGA c.1350
M F E L G R V F F X p.449
. . . . . . g.52007
tcaagtgataaccaaagtgtcactgcaagagatattcaagttctacaatcaaaaattaaa c.*60
. . . . . . g.52067
tgttcggcccggcgcggtgcctcatgcctgtaatcccagcactttcggaggccaagaagg c.*120
. . . . . . g.52127
gtggcttgagatgagatcaggagctcaagacaagcctggccaacatggtgaaaccccatc c.*180
. . . . . . g.52187
tctactaaaaataccaaaattagccaggtgtgttggcacacgcccgtcatctcagctact c.*240
. . . . . . g.52247
caggaggctgaggcaggagaatctcttgaacttgggaggcggaggttgcagtgagctaag c.*300
. . . . . . g.52307
atcacaccactgcactccagccagggcaacagtgagactcagtctcaaaaataaacaata c.*360
. . . . . . g.52367
aaataaataaataaatgttcactactgggtgatcatttaataggtgtttttttaatcaag c.*420
. . . . . g.52420
aaattatctttttcagcccagtatatcgtgtgaataaaattatgaagaatcta c.*473
(downstream sequence)
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