(used for variant description)
(last modified March 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001080413.3 in the NOBOX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028979.1, covering NOBOX transcript NM_001080413.3.
(upstream sequence)
. . . . . . g.60
ATGGCTCTCCTTTTGACACTAACATCACCAGACCTGGAGGGTACCTGGGACACCAGAGAC c.60
M A L L L T L T S P D L E G T W D T R D p.20
. . | 02 . . . . g.5582
AAGGATGGCTTCAAAGCCCAGGAGG | GGCCGCCCCTGGCTGTACCTGAATTTCCTGTGTGT c.120
K D G F K A Q E G | P P L A V P E F P V C p.40
. . . . . . g.5642
GGACTGTACCGGATCTACGGAGTCTGTGGCTCTTTCAGCTCCTTCTTCATCATCCGGTGC c.180
G L Y R I Y G V C G S F S S F F I I R C p.60
. . . | 03 . . . g.8307
AGCCTTTGTGCTCTGGAGACCCTCAAATCA | CCCCAACATGATCCCTTAGAGATACCTGAA c.240
S L C A L E T L K S | P Q H D P L E I P E p.80
. . . . . | 04 . g.8638
CAGTCCCTCAAACTCATACCCCTGGTGTCTGGGAAAAGGGAACTCACAAGGG | GCCAGAAA c.300
Q S L K L I P L V S G K R E L T R G | Q K p.100
. . . . . . g.8698
GCTGGAGAGAAGCCCCTGGCTGCAGGACCCGGGGAGGAGGAACTGCTCCGGGGCTCAGCC c.360
A G E K P L A A G P G E E E L L R G S A p.120
. . . . . . g.8758
CCTCATGCTCAGGACACTCAGAGTGAGGAACTGCCACCCTCCTGCACCATCTCAGGAGAG c.420
P H A Q D T Q S E E L P P S C T I S G E p.140
. . . . . . g.8818
AAGAAGCCGCCAGCAGTCTCTGGAGAAGCCACCGGGGCTGATGCTGGGAGACTGTGCCCG c.480
K K P P A V S G E A T G A D A G R L C P p.160
. . . . . . g.8878
CCCCCCCGCTCCAGGGCTCCCCACAAAGACAGAACTCTAGCCCGCTCCAGGCCCCAGACT c.540
P P R S R A P H K D R T L A R S R P Q T p.180
. . . . . . g.8938
CAGGGGGAAGATTGTTCCCTCCCAGTGGGAGAGGTGAAGATAGGAAAGAGGTCCTATTCT c.600
Q G E D C S L P V G E V K I G K R S Y S p.200
. . . . . . g.8998
CCAGCCCCCGGGAAGCAGAAAAAGCCTAATGCCATGGGTCTGGCCCCAACATCATCTCCG c.660
P A P G K Q K K P N A M G L A P T S S P p.220
. . . . . . g.9058
GGTGCCCCTAACTCAGCCCGTGCCACACACAACCCAGTGCCCTGTGGGTCAGGCCGGGGG c.720
G A P N S A R A T H N P V P C G S G R G p.240
. . . . . . g.9118
CCCTGCCACCTGGCCAATCTCCTCAGTACATTGGCGCAGAGCAACCAAAACAGAGACCAC c.780
P C H L A N L L S T L A Q S N Q N R D H p.260
. . . . . . g.9178
AAGCAGGGGCCCCCGGAAGTGACCTGCCAAATTAGGAAAAAGACACGAACCCTATACCGC c.840
K Q G P P E V T C Q I R K K T R T L Y R p.280
| 05 . . . . . . g.9971
TCAG | ATCAGCTGGAGGAGCTAGAGAAGATATTCCAAGAAGACCACTATCCTGACAGTGAT c.900
S D | Q L E E L E K I F Q E D H Y P D S D p.300
. . . . . . g.10031
AAACGCCGAGAGATTGCCCAGACGGTGGGGGTGACCCCCCAGCGCATCATGGTAAAGGGG c.960
K R R E I A Q T V G V T P Q R I M V K G p.320
. . . . . . g.10091
GCCGGCTCACTGGTGGCAGGGTGGAGTGGCGGAGGGCCCACCATTGAAACACTCGAATTG c.1020
A G S L V A G W S G G G P T I E T L E L p.340
. . | 06. . . . g.10397
CAGAGTGAGCGCTCAGCGGTAGCCTGG | GTGTGGTTCCAGAATCGCCGGGCCAAGTGGCGA c.1080
Q S E R S A V A W | V W F Q N R R A K W R p.360
. . . . . . g.10457
AAAATGGAGAAACTGAATGGGAAAGAAAGCAAGGACAATCCTGCAGCCCCTGGCCCTGCC c.1140
K M E K L N G K E S K D N P A A P G P A p.380
. | 07 . . . . . g.10791
AGCAGTCAATGCAG | CTCTGCAGCTGAGATCCTACCTGCTGTGCCCATGGAGCCAAAGCCT c.1200
S S Q C S | S A A E I L P A V P M E P K P p.400
. . . . | 08 . . g.11069
GACCCTTTCCCTCAGGAGTCCCCTCTGGATACCTTTCCAG | AGCCCCCCATGCTGCTGACT c.1260
D P F P Q E S P L D T F P E | P P M L L T p.420
. . . . . . g.11129
TCTGACCAGACTTTGGCCCCCACCCAACCCAGTGAGGGTGCTCAGAGGGTGGTGACCCCC c.1320
S D Q T L A P T Q P S E G A Q R V V T P p.440
. . . . . . g.11189
CCACTCTTCAGCCCCCCACCTGTGCGAAGGGCCGATCTTCCTTTCCCCCTTGGCCCTGTC c.1380
P L F S P P P V R R A D L P F P L G P V p.460
. . . . . . g.11249
CACACCCCCCAACTGATGCCACTGCTGATGGATGTTGCTGGCAGTGACAGCAGCCACAAG c.1440
H T P Q L M P L L M D V A G S D S S H K p.480
. . | 09 . . . g.11672
GACGGCCCCTGTGGGTCCTGGGGGACAAG | CATCACCCTGCCACCCCCCTGTTCATATTTG c.1500
D G P C G S W G T S | I T L P P P C S Y L p.500
. . . . . . g.11732
GAGGAGCTGGAGCCCCAGGATTACCAACAGAGCAACCAGCCAGGACCCTTCCAGTTCTCC c.1560
E E L E P Q D Y Q Q S N Q P G P F Q F S p.520
. . . . . . g.11792
CAGGCTCCACAGCCCCCGCTTTTCCAGTCCCCTCAGCCCAAGTTGCCCTACCTCCCCACT c.1620
Q A P Q P P L F Q S P Q P K L P Y L P T p.540
. . . . . . g.11852
TTCCCCTTCTCCATGCCCAGTTCACTGACGCTTCCACCGCCCGAAGACTCTCTCTTTATG c.1680
F P F S M P S S L T L P P P E D S L F M p.560
. . . . . . g.11912
TTTCCCTGTGGCCCCAGCGGGGGCACATCGCAGGGCTATTGCCCAGGTGCCTCCTCAGGA c.1740
F P C G P S G G T S Q G Y C P G A S S G p.580
. . . | 10 . . . g.12712
CAGATCCTGATGCAACCACCTGCTGGGAATATAG | GTACAGCCTCCTGGAGTGACCCCTGT c.1800
Q I L M Q P P A G N I G | T A S W S D P C p.600
. . . . . . g.12772
TTGCCAGAGCTGCCCTTCCCTGGTCCGTTCTGCCCACAAGCTCTGGGGCATCCCCCAGGA c.1860
L P E L P F P G P F C P Q A L G H P P G p.620
. . . . . . g.12832
GGGGATGGCTACTTTCCTGATCTATTTCCAACTCCCTGCCCCCAGGCTCTGGGCAGGCAG c.1920
G D G Y F P D L F P T P C P Q A L G R Q p.640
. . . . . . g.12892
CCTTCGTCAGCTCTCTCATGGATGCCTGAAGGGGCCAGACCAGGGACTGGGCCCTTACTC c.1980
P S S A L S W M P E G A R P G T G P L L p.660
. . . . . . g.12952
AGCAAGGCAAAAGAGGAACCACCAGCTGCTTCCCTGGATCAGCCCTCAGCACTGGAGGAG c.2040
S K A K E E P P A A S L D Q P S A L E E p.680
. . . g.12988
GCCAGAGGGGATGACAAGAATAGCCATGTCCCCTAG c.2076
A R G D D K N S H V P X p.691
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center