(used for variant description)
(last modified January 17, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001077416.2 in the TMEM231 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033109.1, covering TMEM231 transcript NM_001077416.2.
(upstream sequence)
. g.5015
gtggagaccgaggcg c.-1
. . . . . . g.5075
ATGGCAACCAGGAGAAGCCAAACTTGGTCCCCCGGCTCGCGGAGTGCCTGCGAGCGGTGC c.60
M A T R R S Q T W S P G S R S A C E R C p.20
. . . . . . g.5135
TCATGGCGCTCTATGAGCTCTTCTCTCACCCGGTCGAGCGCAGTTACCGCGCGGGGCTCT c.120
S W R S M S S S L T R S S A V T A R G S p.40
. . . . . . g.5195
GCTCCAAAGCCGCGCTGTTCCTGCTGCTGGCCGCTGCGCTCACGTACATCCCGCCGCTGC c.180
A P K P R C S C C W P L R S R T S R R C p.60
. . . . . . g.5255
TGGTGGCCTTCCGGAGCCACGGTGAGCCTGCCCCGGCCGCTGTGCCACGAGGCTCCCCGG c.240
W W P S G A T V S L P R P L C H E A P R p.80
. . . . . . g.5315
GCGCGCTCGGCCAGGGCCGGCCTCCCTAACCGCCTCCCTACCGCCCTCTTTAACTCAGGG c.300
A R S A R A G L P N R L P T A L F N S G p.100
. . . . . . g.5375
TTTTGGCTGAAGCGGAGCAGCTACGAGGAGCAGCCGACCGTGCGCTTCCAACACCAGGTG c.360
F W L K R S S Y E E Q P T V R F Q H Q V p.120
. . . . . . g.5435
CTGCTCGTGGCCCTGCTCGGACCCGAAAGCGACGGGTTCCTCGCCTGGAGCACGTTCCCC c.420
L L V A L L G P E S D G F L A W S T F P p.140
. . . . | 02 . g.15344
GCCTTCAACCGGCTGCAAGGGGATCGCCTGCGCGTCCCGCTCGTTTCG | ACTAGAGAAGAA c.480
A F N R L Q G D R L R V P L V S | T R E E p.160
. . . . . . g.15404
GACAGGAACCAGGATGGGAAGACGGACATGTTACATTTTAAGCTGGAGCTTCCCCTGCAG c.540
D R N Q D G K T D M L H F K L E L P L Q p.180
. . . . . | 03. g.15794
TCCACGGAGCACGTTCTCGGTGTGCAGCTCATCCTGACTTTCTCCTATCGATTACAC | AGG c.600
S T E H V L G V Q L I L T F S Y R L H | R p.200
. . . . . . g.15854
ATGGCGACCCTCGTGATGCAGAGCATGGCGTTTCTCCAGTCCTCCTTTCCTGTCCCGGGA c.660
M A T L V M Q S M A F L Q S S F P V P G p.220
. . . . . . g.15914
TCCCAGTTATACGTGAACGGAGACCTGAGGCTGCAGCAGAAGCAGCCGCTGAGCTGTGGT c.720
S Q L Y V N G D L R L Q Q K Q P L S C G p.240
. . | 04 . . . . g.18642
GGCCTAGATGCCCGATACAAC | ATATCCGTGATCAACGGGACCAGCCCCTTTGCCTATGAC c.780
G L D A R Y N | I S V I N G T S P F A Y D p.260
. . . . | 05 . . g.19848
TACGACCTCACCCATATTGTTGCTGCCTACCAGGAGAGGAACG | TTACCACCGTCCTGAAT c.840
Y D L T H I V A A Y Q E R N V | T T V L N p.280
. . . . . . g.19908
GATCCCAACCCCATCTGGCTGGTGGGCAGGGCCGCAGATGCTCCATTTGTGATTAATGCT c.900
D P N P I W L V G R A A D A P F V I N A p.300
. . | 06 . . . g.21143
ATCATCCGATACCCTGTGGAAGTCATTTC | TTATCAGCCAGGATTCTGGGAGATGGTAAAG c.960
I I R Y P V E V I S | Y Q P G F W E M V K p.320
. . . . . . g.21203
TTCGCCTGGGTGCAGTATGTCAGCATCCTGCTTATCTTCCTCTGGGTGTTTGAAAGAATC c.1020
F A W V Q Y V S I L L I F L W V F E R I p.340
. . . . . . g.21263
AAGATCTTCGTGTTTCAGAATCAGGTGGTGACCACCATTCCTGTGACAGTGACGCCCCGG c.1080
K I F V F Q N Q V V T T I P V T V T P R p.360
. . . g.21293
GGAGACTTGTGTAAGGAGCACTTATCCTAG c.1110
G D L C K E H L S X p.369
. . . . . . g.21353
aaaggccatttctgaagactcagcaggaccgtggctgcctcattgtcatcttctgggaac c.*60
. . . . . . g.21413
atcttaggaccttttgaaagagcccagcggacacctgcgggcttgtgtgcttttccctca c.*120
. . . . . . g.21473
gagacaacggttctttccggttttgctctacacagttccgtatcttcagagctcctgcag c.*180
. . . . . . g.21533
aattgtcagggactagtttgtggaaaggtctgagagttcctggaggctataattagcttt c.*240
. . . . . . g.21593
ttgggttttccttctttgccttagcgttgaatttcaggagaaaattgcagtcagttcaga c.*300
. . . . . . g.21653
catcttggaaagagtcccatctctggtcaagcagagacttttcctctgttgaactgagga c.*360
. . . . . . g.21713
acacactgtgcatttctaccttctgttgtgagccactcttactcttttcagggctctctt c.*420
. . . . . . g.21773
gtgacaaacatgccaatcactagcactttgcacccctgggcttctccatttcccattcac c.*480
. . . . . . g.21833
agctttgatttccagagctgaggcctttaactggagacctggaggggcagggcccaaggg c.*540
. . . . . . g.21893
caagggccgcattagcacaggcaatcagggagggccgctgaaggacacttggaccgtcca c.*600
. . . . . . g.21953
cctgccccagcccaacagtcagtcatctgtcatcagctcagctgagcagccctggatctt c.*660
. . . . . . g.22013
tgccgtactgtgactgggctctttgccctatttttccctctgtctgtgcccctggatggc c.*720
. . . . . . g.22073
aggctgaagtcagaggggctgtttcattctcagccccctcagcagcactgggggaagaaa c.*780
. . . . . . g.22133
gcattgtcacaacaggttctttctggccctcacccaacagcctgggcacttggccctcct c.*840
. . . . . . g.22193
cctccttgacagccctcccccttcctgcaaaggacaggggcgacaggggttggtgttggg c.*900
. . . . . . g.22253
attggctcccgctgcctgacaaccacaagtttatttggaaggctagcgggaagcccagcg c.*960
. . . . . . g.22313
gctggcgtttcccttgactaaggaacagggtgcccatcagagtggggcgggcagctttgg c.*1020
. . . . . . g.22373
gaaggacacaagaagcagtaagagtgtaaagaggatgctggcctgggcaggccagtccag c.*1080
. . . . . . g.22433
cctggccactagcagaataccaagcagtccagtggattaccctcgtggctaagcaagtgt c.*1140
. . . . . . g.22493
ctgcaggagcagagatggctggaaggggcctctgcacacggaagatggcttgttcagccc c.*1200
. . . . . . g.22553
attcacctcctgaggatgtgggcagtctcctccaagaacacatggagctgcttcctgatc c.*1260
. . . . . . g.22613
ccaagcaggtcattgccactggaaggacatggccccggtgatccatgcttcatgcccacc c.*1320
. . . . . . g.22673
cagaaacacacccctcagtgtgtgcctcagtttactttggagatcagttgtcgtttttag c.*1380
. . . . . . g.22733
tgctcctttaggcttactaaaacagttttggaaacaaagctattttgaagtattcaagca c.*1440
. . . . . . g.22793
gaggaattccctaacactgacccccttgtctttttttaatattcaggctgttttatatgc c.*1500
. . . . . . g.22853
ctaaatttttttcttaagatctaaacgaaaaatagtttcttgtttaaattcacataaggc c.*1560
. . . . . . g.22913
aatgagatatggaaagatgacaagatacgtataaacattggtttgcattttattaaatta c.*1620
. . . . . . g.22973
ttctaatgcaaatcttgtataaagaacccatgatgttttgtaactttctaattaaaatgt c.*1680
. . . . . . g.23033
tcaaaatgaggccgagcatggtggttcattcctgtaatctcaacactttgggaggccaag c.*1740
. . . . . . g.23093
gtgggaggatcacttgagcccaggagcttgaggctgcagtgtgctatgattgcaccactg c.*1800
. . . . . . g.23153
tactgtagcctgggtgacagagtgagaccctatctgttaaaataaataaataaataaata c.*1860
. g.23170
aaaaagtcaaaatggaa c.*1877
(downstream sequence)
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