(used for variant description)
(last modified October 2, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_032409.2 in the PINK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008164.1, covering PINK1 transcript NM_032409.2.
(upstream sequence)
. . . g.5034
cgcagaggcaccgccccaagtttgttgtgaccgg c.-61
. . . . . . g.5094
cgggggacgccggtggtggcggcagcggcggctgcgggggcaccgggccgcggcgccacc c.-1
. . . . . . g.5154
ATGGCGGTGCGACAGGCGCTGGGCCGCGGCCTGCAGCTGGGTCGAGCGCTGCTGCTGCGC c.60
M A V R Q A L G R G L Q L G R A L L L R p.20
. . . . . . g.5214
TTCACGGGCAAGCCCGGCCGGGCCTACGGCTTGGGGCGGCCGGGCCCGGCGGCGGGCTGT c.120
F T G K P G R A Y G L G R P G P A A G C p.40
. . . . . . g.5274
GTCCGCGGGGAGCGTCCAGGCTGGGCCGCAGGACCGGGCGCGGAGCCTCGCAGGGTCGGG c.180
V R G E R P G W A A G P G A E P R R V G p.60
. . . . . . g.5334
CTCGGGCTCCCTAACCGTCTCCGCTTCTTCCGCCAGTCGGTGGCCGGGCTGGCGGCGCGG c.240
L G L P N R L R F F R Q S V A G L A A R p.80
. . . . . . g.5394
TTGCAGCGGCAGTTCGTGGTGCGGGCCTGGGGCTGCGCGGGCCCTTGCGGCCGGGCAGTC c.300
L Q R Q F V V R A W G C A G P C G R A V p.100
. . . . . . g.5454
TTTCTGGCCTTCGGGCTAGGGCTGGGCCTCATCGAGGAAAAACAGGCGGAGAGCCGGCGG c.360
F L A F G L G L G L I E E K Q A E S R R p.120
. . | 02. . . . g.9420
GCGGTCTCGGCCTGTCAGGAGATCCAG | GCAATTTTTACCCAGAAAAGCAAGCCGGGGCCT c.420
A V S A C Q E I Q | A I F T Q K S K P G P p.140
. . . . . . g.9480
GACCCGTTGGACACGAGACGCTTGCAGGGCTTTCGGCTGGAGGAGTATCTGATAGGGCAG c.480
D P L D T R R L Q G F R L E E Y L I G Q p.160
. . . . . . g.9540
TCCATTGGTAAGGGCTGCAGTGCTGCTGTGTATGAAGCCACCATGCCTACATTGCCCCAG c.540
S I G K G C S A A V Y E A T M P T L P Q p.180
. . . . . . g.9600
AACCTGGAGGTGACAAAGAGCACCGGGTTGCTTCCAGGGAGAGGCCCAGGTACCAGTGCA c.600
N L E V T K S T G L L P G R G P G T S A p.200
. . . . . . g.9660
CCAGGAGAAGGGCAGGAGCGAGCTCCGGGGGCCCCTGCCTTCCCCTTGGCCATCAAGATG c.660
P G E G Q E R A P G A P A F P L A I K M p.220
. | 03 . . . . . g.11482
ATGTGGAACATCTCG | GCAGGTTCCTCCAGCGAAGCCATCTTGAACACAATGAGCCAGGAG c.720
M W N I S | A G S S S E A I L N T M S Q E p.240
. . . . . | 04 . g.16039
CTGGTCCCAGCGAGCCGAGTGGCCTTGGCTGGGGAGTATGGAGCAGTCACTTACAG | AAAA c.780
L V P A S R V A L A G E Y G A V T Y R | K p.260
. . . . . . g.16099
TCCAAGAGAGGTCCCAAGCAACTAGCCCCTCACCCCAACATCATCCGGGTTCTCCGCGCC c.840
S K R G P K Q L A P H P N I I R V L R A p.280
. . . . . . g.16159
TTCACCTCTTCCGTGCCGCTGCTGCCAGGGGCCCTGGTCGACTACCCTGATGTGCTGCCC c.900
F T S S V P L L P G A L V D Y P D V L P p.300
. . . . . | 05 g.17106
TCACGCCTCCACCCTGAAGGCCTGGGCCATGGCCGGACGCTGTTCCTCGTTATGAAGAA | C c.960
S R L H P E G L G H G R T L F L V M K N | p.320
. . . . . . g.17166
TATCCCTGTACCCTGCGCCAGTACCTTTGTGTGAACACACCCAGCCCCCGCCTCGCCGCC c.1020
Y P C T L R Q Y L C V N T P S P R L A A p.340
. . . . . . g.17226
ATGATGCTGCTGCAGCTGCTGGAAGGCGTGGACCATCTGGTTCAACAGGGCATCGCGCAC c.1080
M M L L Q L L E G V D H L V Q Q G I A H p.360
. . . . | 06 . . g.20067
AGAGACCTGAAATCCGACAACATCCTTGTGGAGCTGGACCCAG | ACGGCTGCCCCTGGCTG c.1140
R D L K S D N I L V E L D P D | G C P W L p.380
. . . . . . g.20127
GTGATCGCAGATTTTGGCTGCTGCCTGGCTGATGAGAGCATCGGCCTGCAGTTGCCCTTC c.1200
V I A D F G C C L A D E S I G L Q L P F p.400
. . . . . | 07 . g.20549
AGCAGCTGGTACGTGGATCGGGGCGGAAACGGCTGTCTGATGGCCCCAGAG | GTGTCCACG c.1260
S S W Y V D R G G N G C L M A P E | V S T p.420
. . . . . . g.20609
GCCCGTCCTGGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGA c.1320
A R P G P R A V I D Y S K A D A W A V G p.440
. . . . . . g.20669
GCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCAC c.1380
A I A Y E I F G L V N P F Y G Q G K A H p.460
. . . . . . g.20729
CTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCA c.1440
L E S R S Y Q E A Q L P A L P E S V P P p.480
. . . . | 08 . g.21991
GACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAG | AGACCATCTGCC c.1500
D V R Q L V R A L L Q R E A S K | R P S A p.500
. . . . . . g.22051
CGAGTAGCCGCAAATGTGCTTCATCTAAGCCTCTGGGGTGAACATATTCTAGCCCTGAAG c.1560
R V A A N V L H L S L W G E H I L A L K p.520
. . . . . . g.22111
AATCTGAAGTTAGACAAGATGGTTGGCTGGCTCCTCCAACAATCGGCCGCCACTTTGTTG c.1620
N L K L D K M V G W L L Q Q S A A T L L p.540
. . . . . . g.22171
GCCAACAGGCTCACAGAGAAGTGTTGTGTGGAAACAAAAATGAAGATGCTCTTTCTGGCT c.1680
A N R L T E K C C V E T K M K M L F L A p.560
. . . . . . g.22231
AACCTGGAGTGTGAAACGCTCTGCCAGGCAGCCCTCCTCCTCTGCTCATGGAGGGCAGCC c.1740
N L E C E T L C Q A A L L L C S W R A A p.580
g.22237
CTGTGA c.1746
L X p.581
. . . . . . g.22297
tgtccctgcatggagctggtgaattactaaaagaacatggcatcctctgtgtcgtgatgg c.*60
. . . . . . g.22357
tctgtgaatggtgagggtgggagtcaggagacaagacagcgcagagagggctggttagcc c.*120
. . . . . . g.22417
ggaaaaggcctcgggcttggcaaatggaagaacttgagtgagagttcagtctgcagtcct c.*180
. . . . . . g.22477
ctgctcacagacatctgaaaagtgaatggccaagctggtctagtagatgaggctggactg c.*240
. . . . . . g.22537
aggaggggtaggcctgcatccacagagaggatccaggccaaggcactggctgtcagtggc c.*300
. . . . . . g.22597
agagtttggctgtgacctttgcccctaacacgaggaactcgtttgaagggggcagcgtag c.*360
. . . . . . g.22657
catgtctgatttgccacctggatgaaggcagacatcaacatgggtcagcacgttcagtta c.*420
. . . . . . g.22717
cgggagtgggaaattacatgaggcctgggcctctgcgttcccaagctgtgcgttctggac c.*480
. . . . . . g.22777
cagctactgaattattaatctcacttagcgaaagtgacggatgagcagtaagtaagtaag c.*540
. . . . . . g.22837
tgtggggatttaaacttgagggtttccctcctgactagcctctcttacaggaattgtgaa c.*600
. . . . . . g.22897
atattaaatgcaaatttacaactgcagatgacgtatgtgccttgaactgaatatttggct c.*660
. . . . . . g.22957
ttaagaatgattcttatactctgaaggtgagaatattttgtgggcaggtatcaacattgg c.*720
. . . . . . g.23017
ggaagagatttcatgtctaactaactaactttatacatgatttttaggaagctattgcct c.*780
. . . . g.23057
aaatcagcgtcaacatgcagtaaaggttgtcttcaactga c.*820
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 24b
©2004-2020 Leiden University Medical Center