(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_153638.2 in the PANK2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008131.3, covering PANK2 transcript NM_153638.2.
(upstream sequence)
g.5262
gggtgg c.-1
. . . . . . g.5322
ATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCT c.60
M R R L G P F H P R V H W A A P P S L S p.20
. . . . . . g.5382
TCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTC c.120
S G L H R L L F L R G T R I P S S T T L p.40
. . . . . . g.5442
TCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTT c.180
S P P R H D S L S L D G G T V N P P R V p.60
. . . . . . g.5502
AGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCT c.240
R E P T G R E A F G P S P A S S D W L P p.80
. . . . . . g.5562
GCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACT c.300
A R W R N G R G G R P R A R L C S G W T p.100
. . . . . . g.5622
GCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTG c.360
A A E E A R R N P T L G G L L G R Q R L p.120
. . . . . . g.5682
CTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCC c.420
L L R M G G G R L G A P M E R H G R A S p.140
. . . . . . g.5742
GCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAG c.480
A T S V S S A G E Q A A G D P E G R R Q p.160
. . . . . . g.5802
GAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAG c.540
E P L R R R A S S A S V P A V G A S A E p.180
. . . . . . g.5862
GGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGC c.600
G T R R D R L G S Y S G P T S V S R Q R p.200
. . | 02 . . . g.24119
GTCGAAAGCCTGAGGAAAAAGCGGCCGC | TTTTTCCATGGTTTGGACTGGATATCGGTGGA c.660
V E S L R K K R P L | F P W F G L D I G G p.220
. . . . . . g.24179
ACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAA c.720
T L V K L V Y F E P K D I T A E E E E E p.240
. . . . . . g.24239
GAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCT c.780
E V E S L K S I R K Y L T S N V A Y G S p.260
. . . . . . g.24299
ACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGC c.840
T G I R D V H L E L K D L T L C G R K G p.280
. . . . . . g.24359
AATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGA c.900
N L H F I R F P T H D M P A F I Q M G R p.300
. . . . . . g.24419
GATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAA c.960
D K N F S S L H T V F C A T G G G A Y K p.320
. . | 03 . . . . g.26777
TTTGAGCAGGATTTTCTCACA | ATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGAT c.1020
F E Q D F L T | I G D L Q L C K L D E L D p.340
. . . . . . g.26837
TGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGC c.1080
C L I K G I L Y I D S V G F N G R S Q C p.360
. . . . . . g.26897
TATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAA c.1140
Y Y F E N P A D S E K C Q K L P F D L K p.380
. . . . . . g.26957
AATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATAT c.1200
N P Y P L L L V N I G S G V S I L A V Y p.400
. . . | 04 . . . g.28644
TCCAAAGATAATTACAAACGGGTCACAGGTACTAG | TCTTGGAGGAGGAACTTTTTTTGGT c.1260
S K D N Y K R V T G T S | L G G G T F F G p.420
. . . . . . g.28704
CTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGT c.1320
L C C L L T G C T T F E E A L E M A S R p.440
. . . . . . g.28764
GGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGG c.1380
G D S T K V D K L V R D I Y G G D Y E R p.460
. . . | 05 . . . g.33116
TTTGGACTGCCAGGCTGGGCTGTGGCTTCAAG | CTTTGGAAACATGATGAGCAAGGAGAAG c.1440
F G L P G W A V A S S | F G N M M S K E K p.480
. . . . . . g.33176
CGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAAC c.1500
R E A V S K E D L A R A T L I T I T N N p.500
. . . | 06 . . . g.34856
ATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAA | AACATTAACCAGGTGGTATTTGTT c.1560
I G S I A R M C A L N E | N I N Q V V F V p.520
. . . . . . g.34916
GGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTAT c.1620
G N F L R I N T I A M R L L A Y A L D Y p.540
. . . . | 07 . . g.39423
TGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAG | GGTTATTTTGGAGCTGTT c.1680
W S K G Q L K A L F S E H E | G Y F G A V p.560
. . . g.39456
GGAGCACTCCTTGAGCTGTTGAAGATCCCGTGA c.1713
G A L L E L L K I P X p.570
. . . . . . g.39516
tcattacctggggaggggttcctgaaaccttccacaatgggatctgtggactttcatttt c.*60
. . . . . . g.39576
tttaagagacttactcaatttcatgactgtactacctgaaacaaagtgagaaaggacagg c.*120
. . . . . . g.39636
tgtatttttctaagtcatcaagataaatccttaagaattcagtctaaattagcaaccagg c.*180
. . . . . . g.39696
aaggaaaaatatattaaaaacaacaaaaaagtggcacatgtccaggcagtgtgaggattt c.*240
. . . . . . g.39756
gctgtatataagttgcctgctttgtatttttgaaatctctgcatcactcattggaagtgc c.*300
. . . . . . g.39816
ttctgaagagagctgctctgtgttcagttgactggttttgtgtcctgtttgaacttgctg c.*360
. . . . . . g.39876
aatgtaaggcaggctactatgcgttataatctaatcacaatttgtcaatatggtcttggc c.*420
. . . . . . g.39936
aatcatctgtgcattactctggtttgcattaagcctgtgtgtgaacttactgtaaaacat c.*480
. . . . . . g.39996
gttttatttcaaggttctgcaaaattaattgggcaggttaattgtgtacctgaaacttaa c.*540
. . g.40017
caagcagtttttggaagggca c.*561
(downstream sequence)
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