(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the VPS45 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering VPS45 transcript NM_007259.4.
(upstream sequence)
. . g.1025
gggaagacgaatctcgaccactgtt c.-541
. . . . . . g.1085
tcgcaaataccgcgtgtgatttattaaatgccgtctctccgagtcccaagcggccgggag c.-481
. . . . . . g.1145
cattatgccacctcccttgccctcatctctcactgccatgcaagaaagcgttaatggcaa c.-421
. . . . . . g.1205
atagggcacgtagccacactccgtcgttcctgcttccaagcaaaccttgtgccaggttcc c.-361
. . . . . . g.1265
tcatttcgcgaggctccactctcttgggcttcaggctgccgctgggcctccagcaccaaa c.-301
. . . . . . g.1325
gggcaataggggtctgagagtccgggcctcaggcatcttcaggccgcaggtgggtggaga c.-241
. . . . . . g.1385
atagcgcccgcgcgtggcagcggcccaggccgtctcagccggatttttccatccccgggg c.-181
. . . . . . g.1445
taggcttggtcccctgtacactccagcggaactacaactcccagcaccgtggctgcccgg c.-121
. . . . . . g.1505
actcccggaagccgaatcccggctgggaggaagcagctgagacccggccaacagactggg c.-61
. . . . . . g.1565
ggttaatttagccagaaaagggggcgggaagggctgtagggtacttgtcaattcgccgcc c.-1
. . . . . . g.1625
ATGAACGTGGTTTTTGCTGTGAAGCAGTACATTTCCAAAATGATAGAGGACAGCGGGCCT c.60
M N V V F A V K Q Y I S K M I E D S G P p.20
. . . | 02 . . . g.2364
GGTATGAAAGTACTTCTCATGGATAAAGAGACG | ACTGGCATAGTGAGTATGGTATACACA c.120
G M K V L L M D K E T | T G I V S M V Y T p.40
. . . . . . g.2424
CAATCGGAGATTCTACAGAAGGAAGTGTACCTCTTTGAACGCATTGATTCTCAAAATCGA c.180
Q S E I L Q K E V Y L F E R I D S Q N R p.60
. . . . | 03 . g.5895
GAGATCATGAAACACCTGAAGGCAATTTGTTTTCTTCGACCTACAAAG | GAGAATGTGGAT c.240
E I M K H L K A I C F L R P T K | E N V D p.80
. . . . | 04 . g.9972
TATATTATTCAGGAGCTCCGAAGACCCAAATACACTATATATTTCATTT | ATTTCAGTAAT c.300
Y I I Q E L R R P K Y T I Y F I Y | F S N p.100
. . . . . . g.10032
GTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCT c.360
V I S K S D V K S L A E A D E Q E V V A p.120
| 05 . . . . . g.10695
GAGGTTCAG | GAATTTTATGGTGATTACATTGCTGTGAACCCACATTTGTTTTCCCTCAAT c.420
E V Q | E F Y G D Y I A V N P H L F S L N p.140
. | 06 . . . . g.10864
ATTTTGGGTTGCTGCCAG | GGTCGAAATTGGGATCCAGCCCAGCTATCTAGAACAACTCAA c.480
I L G C C Q | G R N W D P A Q L S R T T Q p.160
. . . . . . g.10924
GGGCTTACAGCTCTCCTTTTATCTCTGAAGAAGTGTCCCATGATTCGTTATCAGCTCTCA c.540
G L T A L L L S L K K C P M I R Y Q L S p.180
. . . | 07 . . . g.11421
TCAGAGGCAGCAAAGAGACTTGCAGAGTGCGTTAAG | CAAGTGATAACTAAAGAATATGAA c.600
S E A A K R L A E C V K | Q V I T K E Y E p.200
. . . . . . g.11481
CTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGAT c.660
L F E F R R T E V P P L L L I L D R C D p.220
. . | 08. . . . g.15107
GATGCCATCACCCCATTGCTAAACCAG | TGGACATATCAGGCCATGGTCCACGAACTACTA c.720
D A I T P L L N Q | W T Y Q A M V H E L L p.240
. . . . . . g.15167
GGCATAAACAACAATCGGATTGATCTTTCCAGAGTGCCGGGAATCAGTAAAGACTTAAGA c.780
G I N N N R I D L S R V P G I S K D L R p.260
. . . . | 09 . . g.15634
GAAGTGGTCCTATCTGCTGAAAATGATGAATTCTATGCTAAT | AATATGTACCTGAACTTT c.840
E V V L S A E N D E F Y A N | N M Y L N F p.280
. . . . . . g.15694
GCTGAGATTGGTAGCAATATAAAGAATCTCATGGAAGATTTTCAGAAGAAGAAACCAAAA c.900
A E I G S N I K N L M E D F Q K K K P K p.300
. . . | 10 . . . g.16474
GAACAGCAAAAACTAGAATCAATAGCAGACATGAAG | GCGTTTGTTGAGAATTATCCACAG c.960
E Q Q K L E S I A D M K | A F V E N Y P Q p.320
. . . . . . g.16534
TTCAAGAAAATGTCTGGGACTGTTTCAAAGCATGTGACAGTGGTTGGAGAACTGTCTCGA c.1020
F K K M S G T V S K H V T V V G E L S R p.340
. . . . . . g.16594
TTGGTCAGTGAACGGAATCTGCTGGAGGTTTCAGAGGTTGAGCAAGAACTGGCCTGTCAA c.1080
L V S E R N L L E V S E V E Q E L A C Q p.360
. . | 11 . . . . g.25717
AATGACCATTCTAGTGCTCTCCAG | AATATAAAAAGGCTTCTGCAGAACCCCAAAGTGACA c.1140
N D H S S A L Q | N I K R L L Q N P K V T p.380
. . . . . . g.25777
GAGTTTGATGCTGCCCGCCTGGTGATGCTTTATGCTTTACATTATGAGCGACACAGCAGC c.1200
E F D A A R L V M L Y A L H Y E R H S S p.400
. . . . . . g.25837
AATAGCCTGCCAGGACTAATGATGGACCTCAGGAATAAAGGTGTTTCTGAGAAGTATCGA c.1260
N S L P G L M M D L R N K G V S E K Y R p.420
| 12 . . . . . . g.26103
AAG | CTCGTGTCTGCAGTTGTTGAATATGGTGGTAAACGAGTCAGAGGAAGTGACCTCTTC c.1320
K | L V S A V V E Y G G K R V R G S D L F p.440
. . . . . | 13 . g.27282
AGCCCCAAAGATGCTGTGGCTATCACCAAACAATTCCTCAAAGGACTGAAG | GGAGTAGAA c.1380
S P K D A V A I T K Q F L K G L K | G V E p.460
. . . . . . g.27342
AATGTATATACACAGCATCAACCTTTCCTACATGAAACCCTGGATCATCTCATCAAAGGA c.1440
N V Y T Q H Q P F L H E T L D H L I K G p.480
. . . . . | 14 . g.44268
AGGCTTAAGGAAAACCTATATCCTTATTTAGGCCCCAGCACACTCAGAGACAG | ACCTCAG c.1500
R L K E N L Y P Y L G P S T L R D R | P Q p.500
. . . . . . g.44328
GATATCATTGTGTTTGTAATTGGAGGAGCCACCTATGAAGAGGCTCTAACAGTTTATAAC c.1560
D I I V F V I G G A T Y E E A L T V Y N p.520
. . . . . . g.44388
CTGAACCGCACCACTCCTGGAGTGAGGATTGTCCTGGGAGGCACCACAGTGCACAACACG c.1620
L N R T T P G V R I V L G G T T V H N T p.540
| 15 . . . . . . g.78592
AAAAG | TTTCCTAGAGGAAGTTCTGGCTTCTGGACTGCACAGCCGAAGCAAGGAGAGCTCT c.1680
K S | F L E E V L A S G L H S R S K E S S p.560
. . . g.78625
CAAGTCACATCAAGGTCAGCGAGCAGAAGATGA c.1713
Q V T S R S A S R R X p.570
. . . . . . g.78685
aacggtggttgggggaagggcacagcttcctctcttgtccccactacaggttttccctac c.*60
. . . . . . g.78745
taaacaaaggtgttggagagcagctttgggttctgtgctggttgttagaactcatctcca c.*120
. . . . . . g.78805
ggtagcccacggatacgtggttggcacagacacaagactcccagagttgtcctaacaata c.*180
. . . . . . g.78865
agtctgagcccatctcaacccacttttctccggtagtctttatgtatctgttagcacaat c.*240
. . . . . . g.78925
cacttcagttactgatgaattttgttgggatctgacttggggaaagggttatcagagcct c.*300
. . . . . . g.78985
agaggggcttaaaaagtaatcatttgatgtacataccacactccttggcttcctttctct c.*360
. . . . . . g.79045
tcccttaaccctttctgcttttcattaaccacattcctgcacaactcatttctgaaaacc c.*420
. . . . . . g.79105
taccatgtttctttacagagccatccaaaaattttttgtccctacatagcaattttctgt c.*480
. . . . . g.79156
ggcactgagaaaccatgtatgaccacaataaaaatccattttgtgaaagga c.*531
(downstream sequence)
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