(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_007059.2 in the KPTN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering KPTN transcript NM_007059.2.
(upstream sequence)
. . . . g.5044
cgcgcaacggccgggcacccggcggttcaggtcgcttagagagt c.-61
. . . . . . g.5104
cgtaggttgggtagtgcgggttggggcgggggctgcggagagggtgcttaactgaggggc c.-1
. . . . . . g.5164
ATGATGGGGGAGGCGGCCGTGGCCGCGGGGCCTTGTCCGTTGCGCGAGGACAGCTTCACG c.60
M M G E A A V A A G P C P L R E D S F T p.20
. . . . . . g.5224
CGCTTCTCGTCGCAGAGCAATGTGTACGGGCTGGCAGGCGGCGCCGGCGGGCGCGGGGAG c.120
R F S S Q S N V Y G L A G G A G G R G E p.40
. . . . . . g.5284
CTGCTGGCCGCCACCCTTAAAGGCAAGGTGCTCGGCTTCCGCTACCAAGACCTCCGACAG c.180
L L A A T L K G K V L G F R Y Q D L R Q p.60
. . . . | 02 . . g.5694
AAAATCCGGCCAGTGGCCAAGGAGCTGCAGTTCAACTACATTCCCG | TGGATGCGGAGATT c.240
K I R P V A K E L Q F N Y I P V | D A E I p.80
. . . . . . g.5754
GTCTCCATCGACACTTTCAACAAGTCACCCCCCAAGCGGGGTCTGGTTGTGGGGATCACG c.300
V S I D T F N K S P P K R G L V V G I T p.100
| 03 . . . . . g.5936
TTCATCAAG | GATTCAGGGGACAAGGGCAGCCCCTTCCTGAACATTTACTGCGACTACGAG c.360
F I K | D S G D K G S P F L N I Y C D Y E p.120
. . . | 04 . . . g.6075
CCCGGCTCTGAGTACAACCTTGACTCTATTGCCC | AGAGCTGCCTGAACCTGGAGCTCCAG c.420
P G S E Y N L D S I A Q | S C L N L E L Q p.140
. . | 05 . . . g.8262
TTCACTCCGTTCCAGCTGTGCCATGCGGA | GGTCCAGGTCGGGGATCAACTTGAGACTGTG c.480
F T P F Q L C H A E | V Q V G D Q L E T V p.160
. . . . | 06 . . g.8446
TTTCTCTTGAGTGGGAACGACCCGGCCATTCATCTCTACAAGGAG | AACGAGGGGCTGCAT c.540
F L L S G N D P A I H L Y K E | N E G L H p.180
. . . . . | 07 g.8858
CAGTTTGAGGAACAGCCCGTGGAAAACCTCTTCCCAGAGCTGACGAACCTGACCAGTAG | C c.600
Q F E E Q P V E N L F P E L T N L T S S | p.200
. . . . . . g.8918
GTCCTCTGGCTGGACGTCCACAACTTCCCCGGCACGTCCCGGCGCCTCTCAGCTCTGGGC c.660
V L W L D V H N F P G T S R R L S A L G p.220
. . . . | 08 . g.9335
TGTCAGAGTGGTTATGTCCGTGTCGCCCACGTGGACCAGCGGAGTCGAG | AGGTTCTGCAG c.720
C Q S G Y V R V A H V D Q R S R E | V L Q p.240
. . . . . . g.9395
ATGTGGTCGGTCCTGCAGGACGGTCCCATCTCCCGAGTGATTGTGTTCAGCCTCTCGGCC c.780
M W S V L Q D G P I S R V I V F S L S A p.260
| 09. . . . . . g.11536
GCCAAGG | AGACCAAGGACAGGCCACTACAAGATGAGTACAGCGTGCTCGTGGCCAGCATG c.840
A K E | T K D R P L Q D E Y S V L V A S M p.280
. . | 10 . . . . g.12363
TTGGAGCCAGCAGTGGTGTATCG | GGACCTGCTGAACCGGGGTCTTGAAGACCAGCTTCTC c.900
L E P A V V Y R | D L L N R G L E D Q L L p.300
. . . . . . g.12423
CTGCCCGGCAGTGACCAGTTTGACAGCGTCCTCTGCAGCCTGGTCACCGATGTGGATTTG c.960
L P G S D Q F D S V L C S L V T D V D L p.320
. . . | 11 . . g.12571
GATGGGCGGCCAGAAGTCCTGGTGGCCACCTATGGACAG | GAACTGCTGTGTTATAAGTAC c.1020
D G R P E V L V A T Y G Q | E L L C Y K Y p.340
. . . . . . g.12631
CGGGGCCCAGAGTCGGGGCTTCCTGAGGCCCAGCACGGGTTCCATCTGCTGTGGCAGCGG c.1080
R G P E S G L P E A Q H G F H L L W Q R p.360
. . . . . . g.12691
AGCTTCTCCAGTCCCCTGCTGGCCATGGCTCACGTGGACCTGACCGGGGATGGGCTGCAG c.1140
S F S S P L L A M A H V D L T G D G L Q p.380
. . . . | 12 . . g.13738
GAGCTTGCCGTGGTCTCCCTGAAGGGCGTGCACATCCTGCAG | CACAGCCTGATTCAGGCC c.1200
E L A V V S L K G V H I L Q | H S L I Q A p.400
. . . . . . g.13798
TCAGAGCTGGTCTTGACCCGGCTTCGACATCAAGTGGAGCAGAGGAGACGTCGGCTACAG c.1260
S E L V L T R L R H Q V E Q R R R R L Q p.420
. . . . . g.13849
GGGTTGGAGGACGGGGCAGGTGCAGGGCCTGCTGAGAATGCAGCCTCTTAA c.1311
G L E D G A G A G P A E N A A S X p.436
. . . . . . g.13909
gcacccatgcacccactcttcccagacctggggcgactcatggcgtgctcacctccagcc c.*60
. . . . . . g.13969
gctggtggggggtgtcctgaaggacaggatgctctccccagacctccccagggtggtgaa c.*120
. . . . . . g.14029
gctgtgccctggggccccagctaacccactcctctctctgtacgtcaatgtccctatttg c.*180
. . . . . . g.14089
aaagcagggatgatcccattccaccctgtccactctggatgagaattggccacctgatgg c.*240
. . . g.14122
ttatttatacgtccagaagaacatcatttccca c.*273
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center