(used for variant description)
(last modified October 21, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001130969.1 in the NSMF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021362.1, covering NSMF transcript NM_001130969.1.
(upstream sequence)
. . . . . g.5074
ggttcgggcagcgctctcccgggagcggcggcacgcgcggagcgccgggtgc c.-181
. . . . . . g.5134
ggccatgcggggaccgggcccgaccccgagcccgaccccgagcccaagcccgagccggag c.-121
. . . . . . g.5194
cccgagcgagaccccgagcccgagcccgagcgcgacccccggtgcggcgcggctaccccg c.-61
. . . . . . g.5254
gcggaggcggcgggcgcggggcgcgctctgaggcccgggggatgcgccgccgcctcgacc c.-1
. . . . . . g.5314
ATGGGCGCCGCCGCCTCCAGGAGGAGGGCGCTGAGGAGCGAGGCCATGTCCTCGGTGGCG c.60
M G A A A S R R R A L R S E A M S S V A p.20
. | 02 . . . . . g.5856
GCCAAAGTGCG | AGCAGCCCGAGCGTTTGGAGAGTACCTGTCCCAGAGTCACCCTGAGAAC c.120
A K V R | A A R A F G E Y L S Q S H P E N p.40
. | 03 . . . . . g.6502
CGCAACGGCGCAG | ATCACCTGCTGGCTGATGCCTACTCTGGCCACGACGGGTCCCCCGAG c.180
R N G A D | H L L A D A Y S G H D G S P E p.60
. . . . . . g.6562
ATGCAGCCGGCCCCCCAGAACAAGCGCCGCCTGTCCCTCGTCTCCAACGGCTGCTACGAG c.240
M Q P A P Q N K R R L S L V S N G C Y E p.80
. . . . . . g.6622
GGCAGCCTCTCAGAGGAGCCCAGCATTAGGAAGCCCGCAGGCGAGGGCCCTCAGCCTCGA c.300
G S L S E E P S I R K P A G E G P Q P R p.100
. . . . . . g.6682
GTGTACACCATCTCTGGGGAGCCTGCCCTGCTGCCCAGCCCTGAGGCGGAGGCCATTGAG c.360
V Y T I S G E P A L L P S P E A E A I E p.120
. . . . . . g.6742
CTGGCGGTGGTGAAGGGGCGGCGGCAGCGGCACCCTCACCATCACAGCCAGCCCCTGCGC c.420
L A V V K G R R Q R H P H H H S Q P L R p.140
. . . . . . g.6802
GCCAGCCCTGGTGGCAGCCGGGAGGACGTCAGCAGGCCCTGCCAGAGCTGGGCGGGCAGC c.480
A S P G G S R E D V S R P C Q S W A G S p.160
. . . . . . g.6862
CGCCAGGGCTCCAAGGAGTGCCCCGGATGTGCCCAGCTGGCTCCTGGCCCCACCCCTCGG c.540
R Q G S K E C P G C A Q L A P G P T P R p.180
. . . . . . g.6922
GCCTTTGGGCTGGACCAGCCACCTCTGCCTGAGACCTCCGGTCGCCGCAAGAAGCTGGAG c.600
A F G L D Q P P L P E T S G R R K K L E p.200
. . | 04 . . . g.7902
AGGATGTACAGCGTTGACCGTGTGTCTG | ACGACATCCCTATTCGTACCTGGTTCCCCAAG c.660
R M Y S V D R V S D | D I P I R T W F P K p.220
. . . . | 05 . | 06 . g.9059
GAAAATCTTTTCAGCTTCCAGACAGCAACCACAACTATGCAAGC | CATCTC | GGTGTTCAGG c.720
E N L F S F Q T A T T T M Q A | I S | V F R p.240
. . . . . | 07 g.9914
GGCTACGCGGAGAGGAAGCGCCGGAAACGGGAGAATGATTCCGCGTCTGTAATCCAGAG | G c.780
G Y A E R K R R K R E N D S A S V I Q R | p.260
. . . . . | 08 . g.10544
AACTTCCGCAAACACCTGCGCATGGTCGGCAGCCGGAGGGTGAAGGCCCAGA | CGTTCGCT c.840
N F R K H L R M V G S R R V K A Q T | F A p.280
. . . . . . g.10604
GAGCGGCGCGAGCGGAGCTTCAGCCGGTCCTGGAGCGACCCCACCCCCATGAAAGCCGAC c.900
E R R E R S F S R S W S D P T P M K A D p.300
. . | 09 . . . . g.11214
ACTTCCCACGACTCCCGAGACA | GCAGTGACCTGCAGAGCTCCCACTGCACGCTGGACGAG c.960
T S H D S R D S | S D L Q S S H C T L D E p.320
. . . . . . g.11274
GCCTTCGAGGACCTGGACTGGGACACTGAGAAGGGCCTGGAGGCTGTGGCCTGCGACACC c.1020
A F E D L D W D T E K G L E A V A C D T p.340
. . | 10. . . . g.11570
GAAGGCTTCGTGCCACCAAAGGTCATG | CTCATTTCCTCCAAGGTGCCCAAGGCTGAGTAC c.1080
E G F V P P K V M | L I S S K V P K A E Y p.360
. . . . . | 11 . g.11779
ATCCCCACTATCATCCGCCGGGATGACCCCTCCATCATCCCCATCCTCTAC | GACCATGAG c.1140
I P T I I R R D D P S I I P I L Y | D H E p.380
. . | 12 . . . . g.11956
CACGCAACCTTCGAGGACATCCTTG | AGGAGATAGAGAGGAAGCTGAACGTCTACCACAAG c.1200
H A T F E D I L E | E I E R K L N V Y H K p.400
. . . | 13 . . . g.14125
GGAGCCAAGATCTGGAAAATGCTGATTTTCTGCCAG | GGAGGTCCTGGACACCTCTATCTC c.1260
G A K I W K M L I F C Q | G G P G H L Y L p.420
. . . . . | 14 . g.14335
CTCAAGAACAAGGTGGCCACCTTTGCCAAAGTGGAGAAGGAAGAGGACATGATTCA | CTTC c.1320
L K N K V A T F A K V E K E E D M I H | F p.440
. . . . . . g.14395
TGGAAGCGGCTGAGCCGCCTGATGAGCAAAGTGAACCCAGAGCCGAACGTCATCCACATC c.1380
W K R L S R L M S K V N P E P N V I H I p.460
. . . | 15 . . g.14703
ATGGGCTGCTACATTCTGGGGAACCCCAATGGAGAGAAG | CTGTTCCAGAACCTCAGGACC c.1440
M G C Y I L G N P N G E K | L F Q N L R T p.480
. . . . . | 16 . g.14870
CTCATGACTCCTTATAGGGTCACCTTCGAGTCACCCCTGGAGCTCTCAGCCCAAG | GGAAG c.1500
L M T P Y R V T F E S P L E L S A Q G | K p.500
. . . . . . g.14930
CAGATGATCGAGACGTACTTTGACTTCCGGTTGTATCGCCTGTGGAAGAGCCGCCAGCAC c.1560
Q M I E T Y F D F R L Y R L W K S R Q H p.520
. . . g.14963
TCGAAGCTGCTGGACTTTGACGACGTCCTGTGA c.1593
S K L L D F D D V L X p.530
. . . . . . g.15023
ggggcagaggcctccgcccagtcaccatcaggccactccctctgcaccgggacctggggc c.*60
. . . . . . g.15083
tgggccgcctcgtgctccccgggactgtgtggctccggtctcgcctggagccacttcagg c.*120
. . . . . . g.15143
gcacctcagacgttgctcaggttccccctgtgggttccggtcctcgctgcacccgtggcc c.*180
. . . . . . g.15203
gcagaggctgcagtccctgggggccgggaggatcccgccctgtggcccgtggatgctcag c.*240
. . . . . . g.15263
cggccaggcactgacctgccatgcctcgcctggaggctcagctgtgggcatccctccatg c.*300
. . . . . . g.15323
gggttcatagaaataagtgcaatttctacacccccgaaacaattcaaagggaagcagcat c.*360
. . . . . . g.15383
ttcttgttaactagttaagcactatgctgctagttacagtgtaggcaccccggcccagca c.*420
. . . . . . g.15443
gcccagcagcccacatgtgttcaggaccctccctgcccaccccctccctgccgtatcgat c.*480
. . . . . . g.15503
caccagcaccagggtggcccgtgtgcgtggggccagcgtcgccgggctgcccagcctggc c.*540
. . . . . . g.15563
tctgtctacactggccgagtctctgggtctgtctacactggccgagtctccgactgtctg c.*600
. . . . . . g.15623
tgctttcacttacactcctcttgccaccccccatccctgcttacttagacctcagccggc c.*660
. . . . . . g.15683
gccggacccggtaggggcagtctgggcagcaggaaggaagggcgcagcgtcccctccttc c.*720
. . . . . . g.15743
agaggaggctctgggtggggcctgctccccatccccccaagcccacccagcactctcatt c.*780
. . . . . . g.15803
gctgctgttgagttcagcttttaccagcctcagtgtggaggctccatcccagcacacagg c.*840
. . . . . . g.15863
cctggggcttggcaggggcccagctggggctgggccctgggttttgagaaactcgctggc c.*900
. . . . . . g.15923
accacagtgggcccctggacccggccgcgcagctggtggactgtaggggctcctgactgg c.*960
. . . . . . g.15983
gcacaggagctcccagcttttgtccacggccagcaggatgggctgtcgtgtatatagctg c.*1020
. . . . . . g.16043
gggcgagggggcaggccccccttgtgcagagccaggggtctgagggcacctggctgtgtt c.*1080
. . . . . . g.16103
cccagctgagggagggctggggcgggggccgggcttggaacgatgtacgataccctcata c.*1140
. . . . . . g.16163
gtgaccattaaacctgatcctccaccgcggccgccgcgtgggtctgtcctctcagtgctt c.*1200
. . . . . . g.16223
tccaggggccttcctgtgcccagcttctgggcccactcctgtgaggtcactgctgcaggg c.*1260
. . . . . . g.16283
ccttcctgcctggacagagttggagctaggccactagaccaccccacagggcatagccag c.*1320
. . . . . . g.16343
ggggaccagcacaggaggggacggagaggagctgcaggagggctggggggaggctgcagt c.*1380
. . . . . . g.16403
ctcggaggggggcctcgccgggtctggaggggacagcagagacagcccgttccccctgcc c.*1440
. . . . . . g.16463
gcctgagggcaccagggagagggctgtatgtccctcacgccacactgtgtgtgcagtcag c.*1500
. . . . . . g.16523
cagtgtggccacagatgggggccactctctcaacctcaggtgtcctcagggcccagaccg c.*1560
. . . . . . g.16583
ctgctgggcacagccaggctggctgccagctggttccctgccccgtggctgggggacaga c.*1620
. . . . . . g.16643
gcagcacgtatcagctgggctagggtcagggggccactggtgcgcagcctggcacagcct c.*1680
. . . . . . g.16703
ggcaggcttgaggcccagtgtgctgggggtggtcacacagccgtcagccacctccagctc c.*1740
. . . . . . g.16763
ttccagggcattctagatggggtcccgggagggggcaggttttggtgccaatttgagtgt c.*1800
. . g.16787
ataaagttttaggtaaataccaaa c.*1824
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 24c
©2004-2020 Leiden University Medical Center