(used for variant description)
(last modified November 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_018668.3 in the VPS33B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012162.1, covering VPS33B transcript NM_018668.3.
(upstream sequence)
. . . . . g.5054
gagatctaggaagtcgcttctttttctggtagaaggcggggttctcctcgtacg c.-301
. . . . . . g.5114
ctgcggagtctctgcggggtgtagaccggaatcctgctgacgggcagagtggatcaggga c.-241
. . . . . . g.5174
gggagggtcgagacacggtggctgcaggtctgagacaaggctgctccgaggtagtagctc c.-181
. . . . . . g.5234
tcttgcctggaggtggccattcattcctggagtgctgctgaggagcgagggcccatctgg c.-121
. . . . . . g.5294
ggtctctggaagtcggtgcccaggcctgaaggatagccccccttgcgcttccctgggctg c.-61
. . . . . . g.5354
cggccggccttctcagaacgaagggcgtccttccaccccgcggcgcaggtgaccgctgcc c.-1
. . . . . . g.5414
ATGGCTTTTCCCCATCGGCCGGACGCCCCTGAGCTGCCTGACTTCTCCATGCTGAAGAGG c.60
M A F P H R P D A P E L P D F S M L K R p.20
. . . | 02 . . . g.9742
CTGGCTCGAGACCAGCTCATCTATCTGCTGGAGCAG | CTTCCTGGAAAAAAGGATTTATTC c.120
L A R D Q L I Y L L E Q | L P G K K D L F p.40
. . . . . | 03. g.10582
ATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAG | CAA c.180
I E A D L M S P L D R I A N V S I L K | Q p.60
. . . . . | 04 g.13171
CACGAAGTAGACAAGCTATACAAGGTGGAGAACAAGCCAGCCCTCAGCTCCAATGAACA | A c.240
H E V D K L Y K V E N K P A L S S N E Q | p.80
. . . . | 05 . g.13743
TTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCA | GTCTTGTCAAT c.300
L C F L V R P R I K N M R Y I A S | L V N p.100
. . . . . | 06. g.17760
GCTGACAAATTGGCTGGCCGAACTCGCAAATACAAAGTGATCTTCAGCCCTCAAAAG | TTC c.360
A D K L A G R T R K Y K V I F S P Q K | F p.120
. . . . | 07 . . g.19656
TATGCGTGTGAGATGGTGCTTGAGGAAGAGGGAATCTATGGAG | ATGTGAGCTGTGATGAA c.420
Y A C E M V L E E E G I Y G D | V S C D E p.140
. . . . . . g.19716
TGGGCCTTCTCTTTGCTGCCTCTTGATGTGGATCTGCTGAGCATGGAACTACCAGAATTT c.480
W A F S L L P L D V D L L S M E L P E F p.160
. | 08 . . . . g.20072
TTCAGGGATTACTTTCTG | GAAGGAGATCAGCGTTGGATCAACACTGTAGCTCAGGCCTTA c.540
F R D Y F L | E G D Q R W I N T V A Q A L p.180
. . . . . . g.20132
CACCTTCTCAGCACTCTCTATGGACCCTTTCCAAACTGCTATGGAATTGGCAGGTGCGCC c.600
H L L S T L Y G P F P N C Y G I G R C A p.200
| 09 . . . . . . g.20614
AAG | ATGGCATATGAATTGTGGAGGAACCTGGAGGAGGAGGAGGATGGCGAAACCAAGGGC c.660
K | M A Y E L W R N L E E E E D G E T K G p.220
. . . . | 10 . . g.20894
CGAAGGCCAGAGATTGGACATATCTTTCTCTTGGACAGAG | ATGTGGACTTTGTGACAGCA c.720
R R P E I G H I F L L D R D | V D F V T A p.240
. . . . . | 11 g.21160
CTTTGCTCCCAAGTGGTTTATGAGGGCCTAGTAGATGACACCTTCCGCATCAAGTGTG | GG c.780
L C S Q V V Y E G L V D D T F R I K C G | p.260
. . . . . . g.21220
AGTGTCGACTTTGGCCCAGAAGTCACATCCTCTGACAAGAGCCTGAAGGTGCTACTCAAT c.840
S V D F G P E V T S S D K S L K V L L N p.280
. | 12 . . . . . g.21592
GCCGAGGACAAG | GTGTTTAATGAGATTCGGAACGAGCACTTCTCCAATGTCTTTGGCTTC c.900
A E D K | V F N E I R N E H F S N V F G F p.300
. . . | 13 . . g.21840
TTGAGCCAGAAGGCCCGGAACTTGCAGGCCCAGTATGAT | CGCCGGAGAGGCATGGACATT c.960
L S Q K A R N L Q A Q Y D | R R R G M D I p.320
. . . . . . g.21900
AAGCAGATGAAGAATTTCGTGTCCCAGGAGCTCAAGGGCCTGAAACAGGAGCACCGCCTG c.1020
K Q M K N F V S Q E L K G L K Q E H R L p.340
. | 14 . . . . . g.22199
CTGAGTCTCC | ATATTGGGGCCTGTGAATCCATCATGAAGAAGAAAACCAAGCAGGATTTC c.1080
L S L H | I G A C E S I M K K K T K Q D F p.360
. . | 15 . . . . g.22519
CAGGAGCTAATCAAGACTGAGCATG | CACTGCTAGAGGGGTTCAACATCCGGGAGAGCACC c.1140
Q E L I K T E H A | L L E G F N I R E S T p.380
. . . | 16 . . . g.22702
AGCTACATTGAGGAACACATAGACCGGCAG | GTGTCGCCTATAGAAAGCCTGCGCCTCATG c.1200
S Y I E E H I D R Q | V S P I E S L R L M p.400
. . | 17 . . . . g.24507
TGCCTTTTGTCCATCACTGAGAATG | GTTTGATCCCCAAGGATTACCGATCTCTGAAAACA c.1260
C L L S I T E N G | L I P K D Y R S L K T p.420
. | 18 . . . . . g.25469
CAGTATCTGCAG | AGCTATGGCCCTGAGCACCTGCTAACCTTCTCCAATCTGCGAAGAGCT c.1320
Q Y L Q | S Y G P E H L L T F S N L R R A p.440
. . . . . . g.25529
GGGCTCCTAACGGAGCAGGCCCCCGGGGACACCCTCACAGCCGTGGAGAGTAAAGTGAGC c.1380
G L L T E Q A P G D T L T A V E S K V S p.460
. . | 19 . . . . g.26176
AAGCTGGTGACCGACAAGGCTGCAG | GAAAGATTACTGATGCCTTCAGTTCTCTGGCCAAG c.1440
K L V T D K A A G | K I T D A F S S L A K p.480
. . . | 20 . . g.27033
AGGAGCAATTTTCGTGCCATCAGCAAAAAGCTGAATTTG | ATCCCACGTGTGGACGGCGAG c.1500
R S N F R A I S K K L N L | I P R V D G E p.500
. . . . . . g.27093
TATGATCTGAAAGTGCCCCGAGACATGGCTTACGTCTTCGGTGGTGCTTATGTGCCCCTG c.1560
Y D L K V P R D M A Y V F G G A Y V P L p.520
. . | 21 . . . . g.27667
AGCTGCCGAATCATTGAGCAG | GTGCTAGAGCGGCGAAGCTGGCAGGGCCTTGATGAGGTG c.1620
S C R I I E Q | V L E R R S W Q G L D E V p.540
. . . | 22. . . g.27833
GTACGGCTGCTCAACTGCAGTGACTTTGCATTCACAG | ATATGACTAAGGAAGACAAGGCT c.1680
V R L L N C S D F A F T D | M T K E D K A p.560
. . . . . . g.27893
TCCAGTGAGTCCCTGCGCCTCATCTTGGTGGTGTTCTTGGGTGGTTGTACATTCTCTGAG c.1740
S S E S L R L I L V V F L G G C T F S E p.580
. . . | 23 . . . g.28575
ATCTCAGCCCTCCGGTTCCTGGGCAGAGAGAAAG | GCTACAGGTTCATTTTCCTGACGACA c.1800
I S A L R F L G R E K G | Y R F I F L T T p.600
. . . . . g.28629
GCAGTCACAAACAGCGCTCGCCTTATGGAGGCCATGAGTGAGGTGAAAGCCTGA c.1854
A V T N S A R L M E A M S E V K A X p.617
. . . . . . g.28689
tgtttttcccggccagtgttgacatcttccctgaacacattcctcagtgagatgcaggca c.*60
. . . . . . g.28749
tctggcacccagctgctataaccaagtgtccaccaactacctgctaagagccgggagcat c.*120
. . . . . . g.28809
ggaacgtgttgggatttagagaacattatctgagaaaagagttcacttcctgctcccagg c.*180
. . . . . . g.28869
atatttctcttttctgtttatgaagtacaacccatgctgctaagatgcgagcaggaagag c.*240
. . . . . . g.28929
gcatcctttgctaaatcctgtttgaatgtcattgtaaataaagcctctgctctcagatgt c.*300
. . . . . . g.28989
aatacgttggtcgttctggacacgcacttccatctttattagtgaaagcccattggagct c.*360
. . . . . . g.29049
tgctacaggggcttcctgtgcttcttggcctggactttgtagtggctccaggcctggtct c.*420
. g.29060
ggttcttccct c.*431
(downstream sequence)
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