(used for variant description)
(last modified January 15, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003383.3 in the VLDLR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012741.1, covering VLDLR transcript NM_003383.3.
(upstream sequence)
. . . g.5037
ctctccggccgccgccggtgcgggtgctccgctaccg c.-361
. . . . . . g.5097
gctcctctccgttctgtgctctcttctgctctcggctccccaccccctctcccttccctc c.-301
. . . . . . g.5157
ctctccccttgcctcccctcctctgcagcgcctgcattattttctgcccgcaggctcggc c.-241
. . . . . . g.5217
ttgcactgctgctgcagcccggggaggtggctgggtgggtggggaggagactgtgcaagt c.-181
. . . . . . g.5277
tgtaggggagggggtgccctcttcttccccgctcccttcccccgccaactccttcccctc c.-121
. . . . . . g.5337
cttctccccctttcccctccccgcccccaccttcttcctcctttcggaaggactggtaac c.-61
. . . . . . g.5397
ttgtcgtgcggagcgaacggcggcggcggcggcggcggcggcaccatccaggcgggcacc c.-1
. . . . . . g.5457
ATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCCCCGG c.60
M G T S A L W A L W L L L A L C W A P R p.20
. . | 02 . . . . g.18698
GAGAGCGGCGCCACCGGAACCG | GGAGAAAAGCCAAATGTGAACCCTCCCAATTCCAGTGC c.120
E S G A T G T G | R K A K C E P S Q F Q C p.40
. . . . . . g.18758
ACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGTGTTGAC c.180
T N G R C I T L L W K C D G D E D C V D p.60
. . | 03 . . . . g.23104
GGCAGTGATGAAAAGAACTGTG | TAAAGAAGACGTGTGCTGAATCTGACTTCGTGTGCAAC c.240
G S D E K N C V | K K T C A E S D F V C N p.80
. . . . . . g.23164
AATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGATGGAGATCCTGACTGCGAAGATGGT c.300
N G Q C V P S R W K C D G D P D C E D G p.100
. . | 04 . . . . g.24619
TCAGATGAAAGCCCAGAACAGTGCC | ATATGAGAACATGCCGCATACATGAAATCAGCTGT c.360
S D E S P E Q C H | M R T C R I H E I S C p.120
. . . . . . g.24679
GGCGCCCATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGT c.420
G A H S T Q C I P V S W R C D G E N D C p.140
. . | 05 . . . g.26399
GACAGTGGAGAAGATGAAGAAAACTGTG | GCAATATAACATGTAGTCCCGACGAGTTCACC c.480
D S G E D E E N C G | N I T C S P D E F T p.160
. . . . . . g.26459
TGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGCCAGGATGACTGCAGC c.540
C S S G R C I S R N F V C N G Q D D C S p.180
. . . . . . g.26519
GATGGCAGTGATGAGCTGGACTGTGCCCCGCCAACCTGTGGCGCCCATGAGTTCCAGTGC c.600
D G S D E L D C A P P T C G A H E F Q C p.200
. . . . . . g.26579
AGCACCTCCTCCTGCATCCCCATCAGCTGGGTATGCGACGATGATGCAGACTGCTCCGAC c.660
S T S S C I P I S W V C D D D A D C S D p.220
. . . . . . g.26639
CAATCTGATGAGTCCCTGGAGCAGTGTGGCCGTCAGCCAGTCATACACACCAAGTGTCCA c.720
Q S D E S L E Q C G R Q P V I H T K C P p.240
. . . . . . g.26699
GCCAGCGAAATCCAGTGCGGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGG c.780
A S E I Q C G S G E C I H K K W R C D G p.260
. . . . | 06 . . g.26855
GACCCTGACTGCAAGGATGGCAGTGATGAGGTCAACTGTC | CCTCTCGAACTTGCCGACCT c.840
D P D C K D G S D E V N C P | S R T C R P p.280
. . . . . . g.26915
GACCAATTTGAATGTGAGGATGGCAGCTGCATCCATGGCAGCAGGCAGTGTAATGGTATC c.900
D Q F E C E D G S C I H G S R Q C N G I p.300
. . . . | 07 . . g.27061
CGAGACTGTGTCGATGGTTCCGATGAAGTCAACTGCAAAAATG | TCAATCAGTGCTTGGGC c.960
R D C V D G S D E V N C K N V | N Q C L G p.320
. . . . . . g.27121
CCTGGAAAATTCAAGTGCAGAAGTGGAGAATGCATAGATATCAGCAAAGTATGTAACCAG c.1020
P G K F K C R S G E C I D I S K V C N Q p.340
. . . . | 08 . . g.27955
GAGCAGGACTGCAGGGACTGGAGTGATGAGCCCCTGAAAGAGTGTC | ATATAAACGAATGC c.1080
E Q D C R D W S D E P L K E C H | I N E C p.360
. . . . . . g.28015
TTGGTAAATAATGGTGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTACGAGTGT c.1140
L V N N G G C S H I C K D L V I G Y E C p.380
. . . . | 09 . . g.28178
GACTGTGCAGCTGGGTTTGAACTGATAGATAGGAAAACCTGTGGAG | ATATTGATGAATGC c.1200
D C A A G F E L I D R K T C G D | I D E C p.400
. . . . . . g.28238
CAAAATCCAGGAATCTGCAGTCAAATTTGTATCAACTTAAAAGGCGGTTACAAGTGTGAA c.1260
Q N P G I C S Q I C I N L K G G Y K C E p.420
. . . . . | 10 . g.28789
TGTAGTCGTGGCTATCAAATGGATCTTGCTACTGGCGTGTGCAAGGCAGTAG | GCAAAGAG c.1320
C S R G Y Q M D L A T G V C K A V G | K E p.440
. . . . . . g.28849
CCAAGTCTGATCTTCACTAATCGAAGAGACATCAGGAAGATTGGCTTAGAGAGGAAAGAA c.1380
P S L I F T N R R D I R K I G L E R K E p.460
. . . . . . g.28909
TATATCCAACTAGTTGAACAGCTAAGAAACACTGTGGCTCTCGATGCTGACATTGCTGCC c.1440
Y I Q L V E Q L R N T V A L D A D I A A p.480
. . . . | 11 . . g.29557
CAGAAACTATTCTGGGCCGATCTAAGCCAAAAGGCTATCTTCAG | TGCCTCAATTGATGAC c.1500
Q K L F W A D L S Q K A I F S | A S I D D p.500
. . . . . . g.29617
AAGGTTGGTAGACATGTTAAAATGATCGACAATGTCTATAATCCTGCAGCCATTGCTGTT c.1560
K V G R H V K M I D N V Y N P A A I A V p.520
. . . . . . g.29677
GATTGGGTGTACAAGACCATCTACTGGACTGATGCGGCTTCTAAGACTATTTCAGTAGCT c.1620
D W V Y K T I Y W T D A A S K T I S V A p.540
. . . . . . g.29737
ACCCTAGATGGAACCAAGAGGAAGTTCCTGTTTAACTCTGACTTGCGAGAGCCTGCCTCC c.1680
T L D G T K R K F L F N S D L R E P A S p.560
. . | 12 . . . . g.30718
ATAGCTGTGGACCCACTGTCTGG | CTTTGTTTACTGGTCAGACTGGGGTGAACCAGCTAAA c.1740
I A V D P L S G | F V Y W S D W G E P A K p.580
. . . . . . g.30778
ATAGAAAAAGCAGGAATGAATGGATTCGATAGACGTCCACTGGTGACAGCGGATATCCAG c.1800
I E K A G M N G F D R R P L V T A D I Q p.600
. . | 13 . . . . g.31453
TGGCCTAACGGAATTACACTTG | ACCTTATAAAAAGTCGCCTCTATTGGCTTGATTCTAAG c.1860
W P N G I T L D | L I K S R L Y W L D S K p.620
. . . . . . g.31513
TTGCACATGTTATCCAGCGTGGACTTGAATGGCCAAGATCGTAGGATAGTACTAAAGTCT c.1920
L H M L S S V D L N G Q D R R I V L K S p.640
. . . . | 14 . . g.31894
CTGGAGTTCCTAGCTCATCCTCTTGCACTAACAATATTTGAG | GATCGTGTCTACTGGATA c.1980
L E F L A H P L A L T I F E | D R V Y W I p.660
. . . . . . g.31954
GATGGGGAAAATGAAGCAGTCTATGGTGCCAATAAATTCACTGGATCAGAGCTAGCCACT c.2040
D G E N E A V Y G A N K F T G S E L A T p.680
. . . . . . g.32014
CTAGTCAACAACCTGAATGATGCCCAAGACATCATTGTCTATCATGAACTTGTACAGCCA c.2100
L V N N L N D A Q D I I V Y H E L V Q P p.700
| 15 . . . . . . g.33633
TCAG | GTAAAAATTGGTGTGAAGAAGACATGGAGAATGGAGGATGTGAATACCTATGCCTG c.2160
S G | K N W C E E D M E N G G C E Y L C L p.720
. . . . . . g.33693
CCAGCACCACAGATTAATGATCACTCTCCAAAATATACCTGTTCCTGTCCCAGTGGGTAC c.2220
P A P Q I N D H S P K Y T C S C P S G Y p.740
. . . | 16 . . . g.34651
AATGTAGAGGAAAATGGCCGAGACTGTCAAA | GTACTGCAACTACTGTGACTTACAGTGAG c.2280
N V E E N G R D C Q S | T A T T V T Y S E p.760
. . . . . | 17 . g.35086
ACAAAAGATACGAACACAACAGAAATTTCAGCAACTAGTGGACTAGTTCCTGGAG | GGATC c.2340
T K D T N T T E I S A T S G L V P G G | I p.780
. . . . . . g.35146
AATGTGACCACAGCAGTATCAGAGGTCAGTGTTCCCCCAAAAGGGACTTCTGCCGCATGG c.2400
N V T T A V S E V S V P P K G T S A A W p.800
. | 18 . . . . . g.36031
GCCATTCTTCCTCTCT | TGCTCTTAGTGATGGCAGCAGTAGGTGGCTACTTGATGTGGCGG c.2460
A I L P L L | L L V M A A V G G Y L M W R p.820
. . . . . . g.36091
AATTGGCAACACAAGAACATGAAAAGCATGAACTTTGACAATCCTGTGTACTTGAAAACC c.2520
N W Q H K N M K S M N F D N P V Y L K T p.840
. . . . . . g.36151
ACTGAAGAGGACCTCTCCATAGACATTGGTAGACACAGTGCTTCTGTTGGACACACGTAC c.2580
T E E D L S I D I G R H S A S V G H T Y p.860
| 19 . . . . g.37094
CCAGCA | ATATCAGTTGTAAGCACAGATGATGATCTAGCTTGA c.2622
P A | I S V V S T D D D L A X p.873
. . . . . . g.37154
cttctgtgacaaatgttgacctttgaggtctaaacaaataatacccccgtcggaatggta c.*60
. . . . . . g.37214
accgagccagcagctgaagtctctttttcttcctctcggctggaagaacatcaagatacc c.*120
. . . . . . g.37274
tttgcgtggatcaagcttgtgtacttgaccgtttttatattacttttgtaaatattcttg c.*180
. . . . . . g.37334
tccacattctacttcagctttggatgtggttaccgagtatctgtaacccttgaatttcta c.*240
. . . . . . g.37394
gacagtattgccacctctggccaaatatgcactttccctagaaagccatattccagcagt c.*300
. . . . . . g.37454
gaaacttgtgctatagtgtataccacctgtacatacattgtataggccatctgtaaatat c.*360
. . . . . . g.37514
cccagagaacaatcactattcttaagcactttgaaaatatttctatgtaaattattgtaa c.*420
. . . . . . g.37574
actttttcaatggttgggacaatggcaataggacaaaacgggttactaagatgaaattgc c.*480
. . . . . . g.37634
caaaaaaatttataaactaattttgtacgtatgaatgatatctttgacctcaatggaggt c.*540
. . . . . . g.37694
ttgcaaagactgagtgttcaaactactgtacattttttttcaagtgctaaaaaattaaac c.*600
. g.37711
caagcagcttaaccatg c.*617
(downstream sequence)
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