(used for variant description)
(last modified December 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_152683.2 in the PRIMPOL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.12, covering PRIMPOL transcript NM_152683.2.
(upstream sequence)
. g.5013
gcgccccgccccc c.-421
. . . . . . g.5073
gcgccccgcgtcctcacgccctggtcccgccctcgcgtcccgcgccagtcctcccgcttt c.-361
. . . . . . g.5133
ggtcccgccctgaggctcggcccggctcccccgccccggatttgaaatctaggtcttcct c.-301
. . . . . . g.5193
gagagtccgcgggcttccgctcccagcgcgggattctggagggaaattgagggagacttg c.-241
. . . . . . g.5253
gaaaccgcgccaggcccaacgggtacctagaagggagacaaagccaggcctgctgcccag c.-181
. . . . . | 02 . g.7427
tttgagctctgggaagaagaggagcaggccgggacgcccaccg | aggtatcccagaggtga c.-121
. . . . . . g.7487
cagaacttgatctgggcctggaaggggaagaattcgggaaaagcaacgtggggcattcca c.-61
. | 03 . . . . . g.12528
g | tagtaattgatagaaatattacgtgggataggatttattctctccacacttctgaacca c.-1
. . . . . . g.12588
ATGAATAGAAAATGGGAAGCAAAACTGAAGCAAATTGAAGAACGAGCATCTCATTATGAG c.60
M N R K W E A K L K Q I E E R A S H Y E p.20
. . . . . . g.12648
AGGAAACCGTTGTCCTCAGTGTATAGACCAAGATTGTCCAAGCCAGAAGAACCACCCTCC c.120
R K P L S S V Y R P R L S K P E E P P S p.40
. . . . . . g.12708
ATCTGGAGACTATTTCATCGACAAGCTCAAGCTTTTAATTTTGTTAAAAGCTGTAAAGAA c.180
I W R L F H R Q A Q A F N F V K S C K E p.60
| 04 . . . . . . g.14787
| GACGTTCATGTATTTGCTTTGGAATGCAAAGTAGGAGATGGACAACGTATTTACCTTGTG c.240
| D V H V F A L E C K V G D G Q R I Y L V p.80
. . . | 05 . . g.17183
ACAACCTATGCTGAATTTTGGTTTTACTATAAATCCAG | AAAAAATCTCTTACACTGCTAT c.300
T T Y A E F W F Y Y K S R | K N L L H C Y p.100
. . . . . . g.17243
GAAGTTATTCCTGAAAATGCTGTGTGCAAGCTTTATTTTGATTTGGAATTTAACAAACCT c.360
E V I P E N A V C K L Y F D L E F N K P p.120
. . . . | 06 . g.21316
GCCAACCCAGGAGCTGATGGGAAAAAGATGGTTGCATTACTCATTGAG | TATGTGTGTAAA c.420
A N P G A D G K K M V A L L I E | Y V C K p.140
. . . . . . g.21376
GCACTTCAAGAGTTATACGGTGTTAATTGCTCAGCTGAAGATGTTTTGAACTTGGATTCT c.480
A L Q E L Y G V N C S A E D V L N L D S p.160
. . . . . . g.21436
AGCACTGATGAAAAATTCAGCCGGCATTTAATATTTCAGCTCCATGATGTGGCATTTAAA c.540
S T D E K F S R H L I F Q L H D V A F K p.180
. | 07 . . . . . g.27604
GATAATATTCATGTTG | GTAATTTTTTGAGAAAAATTTTGCAGCCTGCTCTTGACTTGCTT c.600
D N I H V G | N F L R K I L Q P A L D L L p.200
. . . . . . g.27664
GGCAGTGAAGATGATGATAGCGCTCCAGAGACAACAGGCCATGGATTTCCCCATTTTTCA c.660
G S E D D D S A P E T T G H G F P H F S p.220
. . . . . . g.27724
GAAGCACCTGCAAGACAAGGATTTTCTTTCAATAAAATGTTCACAGAAAAGGCTACAGAG c.720
E A P A R Q G F S F N K M F T E K A T E p.240
. . . . . . g.27784
GAAAGCTGGACATCGAATTCAAAGAAACTGGAGAGGCTGGGGTCAGCTGAGCAAAGCAGT c.780
E S W T S N S K K L E R L G S A E Q S S p.260
. . . . . . g.27844
CCTGACCTTTCATTTCTAGTTGTGAAGAATAACATGGGAGAGAAGCATCTTTTTGTAGAT c.840
P D L S F L V V K N N M G E K H L F V D p.280
| 08 . . . . . . g.33675
CTCG | GAGTTTATACAAGAAATAGAAACTTTCGGCTATATAAATCATCAAAAATTGGAAAG c.900
L G | V Y T R N R N F R L Y K S S K I G K p.300
. . . . . . g.33735
CGTGTGGCTTTGGAGGTTACTGAAGATAACAAATTTTTTCCTATACAGTCAAAAGATGTT c.960
R V A L E V T E D N K F F P I Q S K D V p.320
. . . . | 09. . g.37648
TCTGACGAATATCAATATTTTCTCTCTTCTTTGGTCAGCAATGTCAG | GTTCTCAGATACT c.1020
S D E Y Q Y F L S S L V S N V R | F S D T p.340
. . . . . . g.37708
TTACGAATTCTTACATGTGAGCCATCTCAGAATAAACAAAAAGGAGTTGGATATTTTAAC c.1080
L R I L T C E P S Q N K Q K G V G Y F N p.360
. | 10 . . . . . g.40840
AGTATCGGCACTTCAG | TAGAAACCATTGAAGGTTTTCAGTGTTCTCCCTATCCTGAAGTT c.1140
S I G T S V | E T I E G F Q C S P Y P E V p.380
. . . . | 11 . . g.40977
GATCATTTTGTTCTTTCTTTGGTGAATAAAGATGGCATTAAAGGAG | GAATTCGGCGTTGG c.1200
D H F V L S L V N K D G I K G G | I R R W p.400
. . . . . . g.41037
AACTACTTTTTCCCAGAAGAATTACTGGTTTATGATATTTGTAAATATCGGTGGTGTGAA c.1260
N Y F F P E E L L V Y D I C K Y R W C E p.420
. . . | 12 . . . g.46911
AACATTGGAAGAGCCCATAAGAGTAATAATATAAT | GATTCTGGTTGATCTGAAAAATGAA c.1320
N I G R A H K S N N I M | I L V D L K N E p.440
. . . . . | 13 g.47055
GTTTGGTATCAAAAATGTCATGACCCTGTATGTAAAGCAGAAAACTTCAAATCTGACT | GT c.1380
V W Y Q K C H D P V C K A E N F K S D C | p.460
. . . . | 14 . . g.49924
TTCCCATTACCTGCTGAAGTATGTCTCCTGTTTCTTTTCAAAGAG | GAAGAAGAGTTTACA c.1440
F P L P A E V C L L F L F K E | E E E F T p.480
. . . . . . g.49984
ACAGATGAAGCAGATGAAACTAGGAGCAATGAAACCCAGAATCCTCATAAACCATCACCT c.1500
T D E A D E T R S N E T Q N P H K P S P p.500
. . . . . . g.50044
AGCAGGCTGTCAACAGGTGCATCTGCTGATGCTGTCTGGGATAATGGCATTGATGATGCT c.1560
S R L S T G A S A D A V W D N G I D D A p.520
. . . . . . g.50104
TATTTTTTAGAAGCTACTGAAGATGCTGAATTAGCTGAAGCTGCAGAGAACAGTCTTCTC c.1620
Y F L E A T E D A E L A E A A E N S L L p.540
. . . . . . g.50164
AGTTATAACAGTGAAGTGGATGAAATTCCTGATGAACTAATTATAGAAGTATTACAAGAG c.1680
S Y N S E V D E I P D E L I I E V L Q E p.560
g.50167
TAA c.1683
X p.560
. . . . . . g.50227
ctaattcactatgaacacttttgtcaccaggctataatttgcctgatgtctgtgagattt c.*60
. . . . . . g.50287
gataaatatatcattcaacctgtttatataaactaagttttattactttgctttccaatt c.*120
. . . . . g.50346
tttgttttttacttctgtaaaccaatttcattaaaaattagctttggtgtaaattcagg c.*179
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2014 Leiden University Medical Center