(used for variant description)
(last modified November 20, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018216.1 in the PANK4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PANK4 transcript NM_018216.1.
(upstream sequence)
g.5009
actttcaaa c.-1
. . . . . . g.5069
ATGGCGGAGTGTGGAGCGAGCGGCAGCGGGAGCAGCGGGGACAGTCTGGACAAGAGCATC c.60
M A E C G A S G S G S S G D S L D K S I p.20
. . . . . . g.5129
ACGCTGCCCCCCGACGAGATCTTCCGCAACCTGGAGAACGCCAAGCGCTTCGCCATCGAC c.120
T L P P D E I F R N L E N A K R F A I D p.40
| 02 . . . . . . g.9852
ATAG | GCGGGTCGTTAACCAAGCTGGCCTACTATTCAACGGTACAGCACAAAGTCGCCAAG c.180
I G | G S L T K L A Y Y S T V Q H K V A K p.60
. . | 03. . . . g.10314
GTGCGGTCTTTCGACCACTCCGGAAAG | GACACAGAACGTGAACATGAGCCGCCCTATGAG c.240
V R S F D H S G K | D T E R E H E P P Y E p.80
. . . . . . g.10374
ATTTCAGTTCAAGAAGAGATCACTGCTCGACTGCACTTCATTAAGTTTGAGAATACCTAC c.300
I S V Q E E I T A R L H F I K F E N T Y p.100
. . . . . . g.10434
ATCGAAGCCTGCCTGGACTTCATCAAAGACCATCTCGTCAACACAGAGACCAAGGTCATC c.360
I E A C L D F I K D H L V N T E T K V I p.120
. . . . . . g.10494
CAGGCGACCGGGGGCGGGGCCTACAAGTTCAAAGACCTCATCGAAGAGAAGCTGCGGCTG c.420
Q A T G G G A Y K F K D L I E E K L R L p.140
| 04 . . . . . . g.10748
AA | AGTCGACAAGGAGGACGTGATGACGTGCCTGATTAAGGGGTGCAACTTCGTGCTCAAG c.480
K | V D K E D V M T C L I K G C N F V L K p.160
. . . . . . g.10808
AACATCCCCCATGAGGCCTTCGTGTACCAGAAGGATTCCGACCCTGAGTTCCGGTTCCAG c.540
N I P H E A F V Y Q K D S D P E F R F Q p.180
. . . . . . g.10868
ACCAACCACCCCCACATTTTCCCCTATCTTCTTGTCAATATCGGCTCTGGAGTCTCCATC c.600
T N H P H I F P Y L L V N I G S G V S I p.200
| 05 . . . . . . g.11236
GTGAAG | GTGGAGACGGAGGACAGGTTCGAGTGGGTCGGCGGCAGCTCCATTGGAGGCGGC c.660
V K | V E T E D R F E W V G G S S I G G G p.220
. . . | 06 . . g.11663
ACCTTCTGGGGGCTTGGCGCTCTGCTCACCAAAACGAAG | AAGTTTGACGAGCTCCTGCAC c.720
T F W G L G A L L T K T K | K F D E L L H p.240
. . . . . . g.11723
CTGGCCTCGAGGGGCCAGCACAGCAATGTGGACATGCTGGTGCGGGACGTCTACGGCGGC c.780
L A S R G Q H S N V D M L V R D V Y G G p.260
. . . . . . g.11783
GCCCACCAGACTCTCGGGCTGAGCGGGAACCTCATCGCCAGCAGCTTCGGGAAGTCGGCC c.840
A H Q T L G L S G N L I A S S F G K S A p.280
. | 07 . . . . . g.12319
ACCGCCGACCAAG | AGTTCTCCAAAGAAGACATGGCGAAGAGCCTGCTGCACATGATCAGC c.900
T A D Q E | F S K E D M A K S L L H M I S p.300
. . . . . . g.12379
AACGACATTGGGCAGCTGGCCTGCCTCCACGCACGGCTGCACAGCCTGGACCGCGTGTAC c.960
N D I G Q L A C L H A R L H S L D R V Y p.320
. . . . . . g.12439
TTTGGAGGCTTCTTTATCCGGGGCCACCCCGTGACCATGCGCACCATCACCTATAGCATC c.1020
F G G F F I R G H P V T M R T I T Y S I p.340
. | 08 . . . . . g.13044
AACTTCTTCTCCAAG | GGGGAAGTGCAGGCGCTGTTTCTGAGGCACGAAGGCTACCTGGGA c.1080
N F F S K | G E V Q A L F L R H E G Y L G p.360
. . . | 09. . . g.13355
GCCATCGGAGCGTTCCTGAAAGGAGCTGAGCAGGACA | ATCCTAACCAGTACAGCTGGGGA c.1140
A I G A F L K G A E Q D N | P N Q Y S W G p.380
. . . . . . g.13415
GAGAACTATGCAGGCAGCTCCGGGCTGATGAGTGCATCACCCGAGCTCGGCCCGGCGCAG c.1200
E N Y A G S S G L M S A S P E L G P A Q p.400
. | 10 . . . . g.15921
CGGGCGCGGAGTGGCACT | TTTGACTTGCTGGAAATGGACCGGCTGGAGAGGCCACTGGTT c.1260
R A R S G T | F D L L E M D R L E R P L V p.420
. . . . . . g.15981
GACCTGCCGCTCCTCCTGGACCCGCCCTCCTACGTGCCCGACACGGTGGACCTCACCGAT c.1320
D L P L L L D P P S Y V P D T V D L T D p.440
. . . . . | 11 . g.17136
GACGCTCTGGCCCGAAAATACTGGCTCACCTGCTTTGAGGAGGCCCTGGACGGG | GTAGTG c.1380
D A L A R K Y W L T C F E E A L D G | V V p.460
. . . . . . g.17196
AAGCGCGCAGTGGCGAGCCAGCCAGACTCTGTGGATGCAGCCGAGAGGGCGGAGAAGTTC c.1440
K R A V A S Q P D S V D A A E R A E K F p.480
. . . . | 12. . g.17520
CGGCAGAAGTACTGGAACAAGCTTCAGACCCTGAGGCAGCAGCCCTT | CGCCTATGGGACC c.1500
R Q K Y W N K L Q T L R Q Q P F | A Y G T p.500
. . . . . . g.17580
CTGACCGTGCGCAGCCTGCTGGACACCAGGGAGCACTGTCTGAACGAGTTCAACTTCCCG c.1560
L T V R S L L D T R E H C L N E F N F P p.520
. | 13 . . . . . g.18602
GATCCCTACTCCAAA | GTGAAGCAGCGGGAGAATGGCGTGGCGCTGAGGTGCTTCCCCGGG c.1620
D P Y S K | V K Q R E N G V A L R C F P G p.540
. . . . . . g.18662
GTCGTGCGCTCCCTGGACGCGCTGGGCTGGGAGGAACGGCAGCTGGCGCTGGTGAAAGGC c.1680
V V R S L D A L G W E E R Q L A L V K G p.560
. . . . | 14. . g.19926
CTCCTGGCGGGGAATGTCTTCGACTGGGGGGCCAAAGCCGTGTCTGC | TGTCCTTGAATCC c.1740
L L A G N V F D W G A K A V S A | V L E S p.580
. . . . | 15 . . g.20226
GACCCCTACTTTGGGTTTGAAGAAGCAAAGAGGAAGTTACAAG | AAAGACCCTGGCTCGTG c.1800
D P Y F G F E E A K R K L Q E | R P W L V p.600
. . . | 16 . . . g.20841
GATTCCTACAGCGAGTGGCTTCAGAGATTAAAG | GGGCCCCCTCATAAATGTGCCTTAATT c.1860
D S Y S E W L Q R L K | G P P H K C A L I p.620
. . . . . . g.20901
TTCGCAGATAACAGTGGAATAGACATCATTTTGGGAGTCTTCCCCTTTGTCAGGGAGCTA c.1920
F A D N S G I D I I L G V F P F V R E L p.640
. | 17 . . . . g.21481
CTCCTTAGAGGGACAGAG | GTCATCCTGGCGTGCAACTCAGGCCCCGCCCTGAACGACGTG c.1980
L L R G T E | V I L A C N S G P A L N D V p.660
. . . . . | 18 g.21667
ACCCACAGCGAGTCCCTCATCGTGGCAGAGCGTATTGCGGGCATGGACCCTGTCGTGCA | C c.2040
T H S E S L I V A E R I A G M D P V V H | p.680
. . . . . . g.21727
TCTGCGCTCCAGGAAGAGAGGCTGCTGCTGGTGCAGACGGGCTCCAGCTCCCCGTGCCTC c.2100
S A L Q E E R L L L V Q T G S S S P C L p.700
| 19 . . . . . g.22588
GACCTCAG | CCGCCTGGATAAGGGGCTGGCCGCACTGGTGCGGGAGCGTGGCGCGGATCTG c.2160
D L S | R L D K G L A A L V R E R G A D L p.720
. . . . . . g.22648
GTGGTCATCGAGGGCATGGGCCGTGCTGTCCACACAAACTACCACGCAGCCCTGCGCTGC c.2220
V V I E G M G R A V H T N Y H A A L R C p.740
. . . . . . g.22708
GAGAGCCTCAAGCTGGCCGTCATCAAGAACGCGTGGCTGGCCGAGCGGCTGGGCGGCCGG c.2280
E S L K L A V I K N A W L A E R L G G R p.760
. . . . g.22750
CTCTTCAGCGTCATCTTCAAGTACGAGGTCCCAGCCGAGTGA c.2322
L F S V I F K Y E V P A E X p.773
. . . . . . g.22810
ggcgctgcagctgccggactcttctgcttgtcacttgtcaggaatgtgtttttaccacca c.*60
. . . . . . g.22870
cagggaaactgcgttcaaatcaacgtatttatatggtactgctgtgacgcggcacataca c.*120
. . . . . . g.22930
ccccagccgcacagatgcgtgtgacccagaggcgagacgcagctttgtcctgggagacgt c.*180
. . . . . . g.22990
tcatattggaatctatttaactgctaaagaaccttttatatatatatatatataaataga c.*240
. . . . . . g.23050
gagatctatacaggtatgtctgacgggacgcagcaccgtgggcacgcaccaaatagagtt c.*300
. g.23061
tttaaaagagg c.*311
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center