(used for variant description)
(last modified November 16, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005861.2 in the STUB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034141.1, covering STUB1 transcript NM_005861.2.
(upstream sequence)
. . . . . g.5051
gctgttgcgggagcgcgccctcagcgaagcaagtgaggcatctcactggga c.-361
. . . . . . g.5111
aagtcgaatgtgtgtggcggccgccgccgaggcgggttccgaagagacctcagcagggca c.-301
. . . . . . g.5171
ggccagggcctacgcgaacgcccacccttaagagcgcggggacagggaactggagcgttc c.-241
. . . . . . g.5231
ctcccagcccccgacgtcgcgggcccagtgtccccgtccaggctggttgggcgcacgcgc c.-181
. . . . . . g.5291
ggccccactcgcccccacgcgtgcgtccccgctggtcccgcccccggccggaagttccgg c.-121
. . . . . . g.5351
cggcggagctgggccgggcccgagcggatcgcgggctcgggctgcggggctccggctgcg c.-61
. . . . . . g.5411
ggcgctgggccgcgaggcgcggagcttgggagcggagcccaggccgtgccgcgcggcgcc c.-1
. . . . . . g.5471
ATGAAGGGCAAGGAGGAGAAGGAGGGCGGCGCACGGCTGGGCGCTGGCGGCGGAAGCCCC c.60
M K G K E E K E G G A R L G A G G G S P p.20
. . . . . . g.5531
GAGAAGAGCCCGAGCGCGCAGGAGCTCAAGGAGCAGGGCAATCGTCTGTTCGTGGGCCGA c.120
E K S P S A Q E L K E Q G N R L F V G R p.40
. . . | 02 . . g.6058
AAGTACCCGGAGGCGGCGGCCTGCTACGGCCGCGCGATC | ACCCGGAACCCGCTGGTGGCC c.180
K Y P E A A A C Y G R A I | T R N P L V A p.60
. . . . . . g.6118
GTGTATTACACCAACCGGGCCTTGTGCTACCTGAAGATGCAGCAGCACGAGCAGGCCCTG c.240
V Y Y T N R A L C Y L K M Q Q H E Q A L p.80
. . . . . . g.6178
GCCGACTGCCGGCGCGCCCTGGAGCTGGACGGGCAGTCTGTGAAGGCGCACTTCTTCCTG c.300
A D C R R A L E L D G Q S V K A H F F L p.100
. . . . . | 03 g.6325
GGGCAGTGCCAGCTGGAGATGGAGAGCTATGATGAGGCCATCGCCAATCTGCAGCGAG | CT c.360
G Q C Q L E M E S Y D E A I A N L Q R A | p.120
. . . . . . g.6385
TACAGCCTGGCCAAGGAGCAGCGGCTGAACTTCGGGGACGACATCCCCAGCGCTCTTCGA c.420
Y S L A K E Q R L N F G D D I P S A L R p.140
. . . . . . g.6445
ATCGCGAAGAAGAAGCGCTGGAACAGCATTGAGGAGCGGCGCATCCACCAGGAGAGCGAG c.480
I A K K K R W N S I E E R R I H Q E S E p.160
. . . . | 04 . . g.6694
CTGCACTCCTACCTCTCCAGGCTCATTGCCGCGGAGCGTGAGAG | GGAGCTGGAAGAGTGC c.540
L H S Y L S R L I A A E R E R | E L E E C p.180
. . . . . . g.6754
CAGCGAAACCACGAGGGTGATGAGGACGACAGCCACGTCCGGGCCCAGCAGGCCTGCATT c.600
Q R N H E G D E D D S H V R A Q Q A C I p.200
. | 05 . . . . . g.6953
GAGGCCAAGCAC | GACAAGTACATGGCGGACATGGACGAGCTTTTTTCTCAGGTGGATGAG c.660
E A K H | D K Y M A D M D E L F S Q V D E p.220
| 06 . . . . . g.7101
AAGAGGAAG | AAGCGAGACATCCCCGACTACCTGTGTGGCAAGATCAGCTTTGAGCTGATG c.720
K R K | K R D I P D Y L C G K I S F E L M p.240
. . . . . . g.7161
CGGGAGCCGTGCATCACGCCCAGTGGCATCACCTACGACCGCAAGGACATCGAGGAGCAC c.780
R E P C I T P S G I T Y D R K D I E E H p.260
| 07 . . . . . . g.7303
CTGCAG | CGTGTGGGTCATTTTGACCCCGTGACCCGGAGCCCCCTGACCCAGGAACAGCTC c.840
L Q | R V G H F D P V T R S P L T Q E Q L p.280
. . . . . . g.7363
ATCCCCAACTTGGCTATGAAGGAGGTTATTGACGCATTCATCTCTGAGAATGGCTGGGTG c.900
I P N L A M K E V I D A F I S E N G W V p.300
. g.7375
GAGGACTACTGA c.912
E D Y X p.303
. . . . . . g.7435
ggttccctgccctacctggcgtcctggtccaggggagccctgggcagaagcccccggccc c.*60
. . . . . . g.7495
ctatacatagtttatgttcctggccaccccgaccgcttcccccaagttctgctgttggac c.*120
. . . . . . g.7555
tctggactgtttcccctctcagcatcgcttttgctgggccgtgatcgtccccctttgtgg c.*180
. . . . . . g.7615
gctggaaaagcaggtgagggtgggctgggctgaggccattgccgccactatctgtgtaat c.*240
. . . g.7654
aaaatccgtgagcacgaggtgggacgtgctggtgtgtga c.*279
(downstream sequence)
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