(used for variant description)
(last modified October 16, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_152285.2 in the ARRDC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering ARRDC1 transcript NM_152285.2.
(upstream sequence)
. g.5014
gccgggcctcggag c.-61
. . . . . . g.5074
ccgggactcgcgggcggcgggcgggggcgtcgctgcgcggctggccggtgaggccgcggc c.-1
. . . . . . g.5134
ATGGGGCGAGTGCAGCTCTTCGAGATCAGCCTGAGCCACGGCCGCGTCGTCTACAGCCCC c.60
M G R V Q L F E I S L S H G R V V Y S P p.20
. . . . . | 02 g.12254
GGGGAGCCGTTGGCTGGGACCGTGCGCGTGCGCCTGGGGGCACCGCTGCCGTTCCGAG | CC c.120
G E P L A G T V R V R L G A P L P F R A | p.40
. . . . . . g.12314
ATCCGGGTGACCTGCATAGGTTCCTGCGGGGTCTCCAACAAGGCTAATGACACAGCGTGG c.180
I R V T C I G S C G V S N K A N D T A W p.60
. . . . | 03 . g.12827
GTAGTGGAGGAGGGTTACTTCAACAGTTCCCTGTCGCTGGCAGACAAGG | GGAGCCTGCCC c.240
V V E E G Y F N S S L S L A D K G | S L P p.80
. . . . | 04 . . g.12991
GCTGGAGAGCACAGCTTCCCCTTCCAGTTCCTGCTTCCTG | CCACTGCACCCACGTCCTTT c.300
A G E H S F P F Q F L L P A | T A P T S F p.100
. . . . . . g.13051
GAGGGTCCTTTCGGGAAGATCGTGCACCAGGTGAGGGCCGCCATCCACACGCCACGGTTT c.360
E G P F G K I V H Q V R A A I H T P R F p.120
. . . . . . g.13111
TCCAAGGATCACAAGTGCAGCCTCGTGTTCTATATCTTGAGCCCCTTGAACCTGAACAGC c.420
S K D H K C S L V F Y I L S P L N L N S p.140
. | 05 . . . . . g.13433
ATCCCAGACATTGAG | CAACCCAACGTGGCCTCTGCCACCAAGAAGTTCTCCTACAAGCTG c.480
I P D I E | Q P N V A S A T K K F S Y K L p.160
. . . . . . g.13493
GTGAAGACGGGCAGCGTGGTCCTCACAGCCAGCACTGATCTCCGCGGCTATGTGGTGGGG c.540
V K T G S V V L T A S T D L R G Y V V G p.180
. . . . . . g.13553
CAGGCACTGCAGCTGCATGCCGACGTTGAGAACCAGTCAGGCAAGGACACCAGCCCTGTG c.600
Q A L Q L H A D V E N Q S G K D T S P V p.200
. | 06 . . . . g.13697
GTGGCCAGTCTGCTGCAG | AAAGTGTCCTATAAGGCCAAGCGCTGGATCCACGACGTACGG c.660
V A S L L Q | K V S Y K A K R W I H D V R p.220
. . . . . . g.13757
ACCATTGCGGAGGTGGAGGGTGCGGGCGTCAAGGCCTGGCGGCGGGCGCAGTGGCACGAG c.720
T I A E V E G A G V K A W R R A Q W H E p.240
. . . . . . g.13817
CAGATCCTGGTGCCTGCCTTGCCCCAGTCGGCCCTGCCGGGCTGCAGCCTCATCCACATC c.780
Q I L V P A L P Q S A L P G C S L I H I p.260
. | 07 . . . . . g.13960
GACTACTACTTACAG | GTCTCTCTGAAGGCGCCGGAAGCTACTGTGACCCTCCCGGTCTTC c.840
D Y Y L Q | V S L K A P E A T V T L P V F p.280
. . . . . . g.14020
ATTGGCAATATTGCTGTGAACCATGCCCCAGTGAGCCCCCGGCCAGGCCTGGGGCTGCCT c.900
I G N I A V N H A P V S P R P G L G L P p.300
. . . . . . g.14080
CCTGGGGCCCCACCCCTGGTGGTGCCTTCCGCACCACCCCAGGAGGAGGCTGAGGCTGAG c.960
P G A P P L V V P S A P P Q E E A E A E p.320
. . . . . . g.14140
GCTGCGGCTGGCGGCCCCCACTTCTTGGACCCCGTCTTCCTCTCCACCAAGAGCCATTCG c.1020
A A A G G P H F L D P V F L S T K S H S p.340
. . . . . . g.14200
CAGCGGCAGCCCCTGCTGGCCACCTTGAGTTCTGTGCCTGGTGCGCCGGAGCCCTGCCCT c.1080
Q R Q P L L A T L S S V P G A P E P C P p.360
. . . . . . g.14260
CAGGATGGCAGCCCTGCCTCACACCCGCTGCACCCTCCCTTGTGCATTTCAACAGGTGCC c.1140
Q D G S P A S H P L H P P L C I S T G A p.380
. . . . . . g.14320
ACTGTCCCCTACTTTGCAGAGGGCTCCGGGGGGCCAGTGCCCACTACCAGCACCTTGATT c.1200
T V P Y F A E G S G G P V P T T S T L I p.400
. . . | 08. . . g.14453
CTTCCTCCAGAGTACAGTTCTTGGGGCTACCCCTATG | AGGCCCCACCGTCTTATGAGCAG c.1260
L P P E Y S S W G Y P Y E | A P P S Y E Q p.420
. . . . g.14495
AGCTGCGGCGGCGTGGAACCCAGCCTGACCCCTGAGAGCTGA c.1302
S C G G V E P S L T P E S X p.433
. . . . . . g.14555
ccccgtgctgccttctccaggcaggcctggcctctgccctgggactggggcgcccagggc c.*60
. . . . . . g.14615
ctcgtgccttctctcttggcctagcctggcccactcaggacctgcccagcctctgccagc c.*120
. . . . . . g.14675
tcctctggcatccgccctcttctccctggggctggggtgggggtggcagggagctgggac c.*180
. . . . g.14717
ctggagagacaactcctgtaaataaaacactttatttgtaga c.*222
(downstream sequence)
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