(used for variant description)
(last modified April 6, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_004713.3 in the NEMF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering NEMF transcript NM_004713.3.
(upstream sequence)
g.5008
gaggagaa c.-61
. . . . . . g.5068
gtggcgtcgagtccggccgggcagtagaggaacttgcggtagtgaccctcgggcctcgcc c.-1
. . . . . | 02 g.5947
ATGAAGAGCCGCTTTAGCACCATTGACCTCCGCGCCGTACTCGCGGAGCTGAATGCTAG | C c.60
M K S R F S T I D L R A V L A E L N A S | p.20
. . . . . . g.6007
TTGCTAGGAATGAGAGTAAACAATGTTTATGATGTGGATAATAAGACATACCTTATTCGT c.120
L L G M R V N N V Y D V D N K T Y L I R p.40
| 03 . . . . . g.6208
CTTCAAAA | ACCGGACTTTAAAGCTACACTTTTACTTGAATCTGGCATACGAATTCATACA c.180
L Q K | P D F K A T L L L E S G I R I H T p.60
. . . . . | 04 . g.11565
ACAGAATTTGAGTGGCCTAAGAATATGATGCCGTCTAGTTTTGCCATGAAG | TGCCGAAAA c.240
T E F E W P K N M M P S S F A M K | C R K p.80
. . . . . . g.11625
CATTTGAAGAGTCGGAGATTAGTCAGTGCAAAACAGCTTGGTGTGGATAGAATTGTAGAT c.300
H L K S R R L V S A K Q L G V D R I V D p.100
. . . . . | 05. g.16958
TTTCAATTTGGAAGTGATGAAGCTGCTTACCATTTAATCATTGAGCTCTATGATAGG | GGG c.360
F Q F G S D E A A Y H L I I E L Y D R | G p.120
. . . . . . g.17018
AACATTGTTCTTACAGATTATGAGTACGTAATTTTAAATATTCTAAGGTTTCGAACTGAT c.420
N I V L T D Y E Y V I L N I L R F R T D p.140
. . . . . . g.17078
GAGGCAGATGATGTTAAATTTGCTGTTCGTGAACGCTATCCACTTGATCATGCTAGAGCT c.480
E A D D V K F A V R E R Y P L D H A R A p.160
. . | 06 . . . . g.19649
GCTGAACCTTTGCTTACTTTGGAAAG | GTTGACTGAAATAGTAGCCAGCGCACCTAAGGGT c.540
A E P L L T L E R | L T E I V A S A P K G p.180
. . . | 07 . . . g.23398
GAACTACTGAAGAGGGTGCTTAACCCATTACTTC | CCTATGGACCAGCTCTCATTGAACAC c.600
E L L K R V L N P L L P | Y G P A L I E H p.200
. . . . . . g.23458
TGTCTTTTAGAAAATGGATTCTCGGGTAATGTCAAAGTGGATGAAAAACTTGAAACTAAA c.660
C L L E N G F S G N V K V D E K L E T K p.220
| 08 . . . . . . g.24384
G | ATATTGAAAAAGTACTTGTTTCTCTGCAGAAAGCAGAAGACTATATGAAAACAACATCC c.720
D | I E K V L V S L Q K A E D Y M K T T S p.240
. | 09 . . . . . g.25589
AACTTCAGTGGGAAG | GGATATATCATTCAGAAAAGAGAAATAAAACCAAGCTTGGAAGCA c.780
N F S G K | G Y I I Q K R E I K P S L E A p.260
. . | 10 . . . . g.25729
GATAAACCAGTTGAAGACATACTGAC | GTATGAGGAATTTCATCCTTTCTTGTTTTCTCAA c.840
D K P V E D I L T | Y E E F H P F L F S Q p.280
. . . . | 11 . . g.26478
CATTCACAATGTCCATATATAGAATTTGAATCATTTGACAAG | GCGGTGGATGAATTTTAT c.900
H S Q C P Y I E F E S F D K | A V D E F Y p.300
. . . . | 12 . . g.28410
TCCAAGATAGAAGGCCAGAAAATTGACTTAAAAGCTTTACAACAG | GAAAAGCAAGCATTG c.960
S K I E G Q K I D L K A L Q Q | E K Q A L p.320
. . . . . . g.28470
AAGAAATTAGATAATGTTCGAAAGGATCACGAAAACAGATTGGAAGCTCTTCAGCAGGCT c.1020
K K L D N V R K D H E N R L E A L Q Q A p.340
| 13 . . . . . . g.28616
CAG | GAAATAGACAAACTGAAAGGAGAGCTCATAGAAATGAACCTACAAATAGTTGACAGA c.1080
Q | E I D K L K G E L I E M N L Q I V D R p.360
. . . . . . g.28676
GCCATTCAGGTAGTTCGAAGTGCTTTAGCTAACCAGATAGATTGGACAGAAATTGGGTTA c.1140
A I Q V V R S A L A N Q I D W T E I G L p.380
. . . . . . g.28736
ATTGTGAAAGAAGCCCAGGCTCAAGGAGACCCTGTTGCAAGTGCAATCAAAGAATTAAAA c.1200
I V K E A Q A Q G D P V A S A I K E L K p.400
. . . | 14 . . . g.29042
CTACAAACAAACCATGTTACAATGCTGCTAAG | AAATCCATACTTGTTATCAGAGGAGGAA c.1260
L Q T N H V T M L L R | N P Y L L S E E E p.420
. . . . . . g.29102
GATGATGATGTTGATGGTGACGTCAATGTTGAGAAAAATGAAACTGAACCACCAAAAGGA c.1320
D D D V D G D V N V E K N E T E P P K G p.440
. . . . . . g.29162
AAAAAGAAAAAACAAAAGAATAAACAGCTGCAGAAGCCTCAGAAAAATAAGCCCTTACTT c.1380
K K K K Q K N K Q L Q K P Q K N K P L L p.460
. . . . | 15 . . g.29483
GTAGATGTTGATCTCAGCTTGTCAGCATATGCCAATGCCAAAAA | GTATTATGATCACAAG c.1440
V D V D L S L S A Y A N A K K | Y Y D H K p.480
. . . . | 16 . g.31878
AGATATGCTGCTAAGAAAACACAAAAGACTGTTGAAGCTGCTGAGAAG | GCATTCAAGTCA c.1500
R Y A A K K T Q K T V E A A E K | A F K S p.500
. . . . . . g.31938
GCAGAAAAGAAAACAAAGCAAACATTAAAAGAAGTTCAGACTGTTACCTCTATTCAAAAA c.1560
A E K K T K Q T L K E V Q T V T S I Q K p.520
. | 17. . . . . g.43007
GCAAGAAAAGTATATTG | GTTTGAGAAATTTCTGTGGTTCATTAGCTCAGAGAACTATCTA c.1620
A R K V Y W | F E K F L W F I S S E N Y L p.540
. . . . . . g.43067
ATTATAGGTGGACGAGATCAGCAACAGAATGAAATAATTGTGAAAAGATACTTGACACCA c.1680
I I G G R D Q Q Q N E I I V K R Y L T P p.560
| 18 . . . . . . g.43830
G | GAGACATTTATGTACATGCTGATCTTCATGGAGCTACTAGCTGTGTAATTAAGAATCCA c.1740
G | D I Y V H A D L H G A T S C V I K N P p.580
| 19 . . . . . . g.51744
ACAG | GAGAACCCATCCCCCCACGGACCTTGACTGAAGCTGGCACAATGGCACTTTGCTAC c.1800
T G | E P I P P R T L T E A G T M A L C Y p.600
. . . . . | 20. g.54530
AGTGCTGCTTGGGATGCACGAGTTATCACTAGTGCTTGGTGGGTGTACCATCATCAG | GTA c.1860
S A A W D A R V I T S A W W V Y H H Q | V p.620
. . . . . | 21 . g.55099
TCTAAAACAGCACCAACTGGAGAATATTTGACAACAGGAAGCTTCATGATAAGAG | GAAAA c.1920
S K T A P T G E Y L T T G S F M I R G | K p.640
. . . . . | 22 . g.55254
AAGAATTTTCTTCCTCCCTCATATCTAATGATGGGGTTTAGCTTCCTTTTTAAG | GTAGAT c.1980
K N F L P P S Y L M M G F S F L F K | V D p.660
. . . . . . g.55314
GAGTCTTGTGTTTGGAGACATCAGGGTGAACGAAAAGTCAGAGTACAGGATGAAGACATG c.2040
E S C V W R H Q G E R K V R V Q D E D M p.680
. . . . . | 23 . g.57130
GAGACACTGGCAAGTTGTACAAGTGAACTCATATCAGAAGAAATGGAACAATTAG | ATGGA c.2100
E T L A S C T S E L I S E E M E Q L D | G p.700
. . . . . . g.57190
GGTGACACGAGCAGTGATGAGGATAAAGAAGAACATGAAACTCCTGTGGAAGTAGAACTC c.2160
G D T S S D E D K E E H E T P V E V E L p.720
. . . . . . g.57250
ATGACTCAGGTTGACCAAGAGGATATCACTCTTCAGAGTGGCAGAGATGAACTAAATGAG c.2220
M T Q V D Q E D I T L Q S G R D E L N E p.740
. . . . . . g.57310
GAGCTCATTCAGGAAGAAAGCTCTGAAGACGAAGGAGAATATGAAGAGGTTAGAAAAGAT c.2280
E L I Q E E S S E D E G E Y E E V R K D p.760
. . . . . . g.57370
CAGGATTCTGTTGGTGAAATGAAGGATGAAGGGGAAGAGACATTAAATTATCCTGATACT c.2340
Q D S V G E M K D E G E E T L N Y P D T p.780
. . . | 24 . . . g.58171
ACCATTGACTTGTCTCACCTTCAACCCCAAAG | GTCCATCCAGAAATTGGCTTCAAAAGAG c.2400
T I D L S H L Q P Q R | S I Q K L A S K E p.800
. | 25 . . . . . g.58342
GAATCTTCTAATTCT | AGTGACAGTAAATCACAGAGCCGGAGACATTTGTCAGCCAAGGAA c.2460
E S S N S | S D S K S Q S R R H L S A K E p.820
| 26 . . . . . . g.61932
AGAAG | GGAAATGAAAAAGAAAAAACTTCCAAGTGACTCAGGAGATTTAGAAGCGTTAGAG c.2520
R R | E M K K K K L P S D S G D L E A L E p.840
. . . . . . g.61992
GGAAAGGATAAAGAAAAAGAAAGTACTGTACACATTGAAACTCATCAGAACACAAGCAAA c.2580
G K D K E K E S T V H I E T H Q N T S K p.860
. . . | 27 . . g.68269
AATGTTGCGGCTGTGCAGCCAATGAAACGAGGACAAAAG | AGTAAAATGAAAAAAATGAAA c.2640
N V A A V Q P M K R G Q K | S K M K K M K p.880
. . . . . | 28. g.68481
GAAAAATACAAAGACCAGGATGAAGAAGACCGTGAACTTATCATGAAGTTGCTGGGG | TCT c.2700
E K Y K D Q D E E D R E L I M K L L G | S p.900
. . . . . . g.68541
GCAGGTTCAAACAAAGAAGAAAAAGGGAAGAAGGGGAAGAAAGGAAAAACAAAGGACGAA c.2760
A G S N K E E K G K K G K K G K T K D E p.920
. . . . . . g.68601
CCTGTGAAGAAACAGCCCCAGAAACCTAGAGGTGGACAGAGGGTCTCTGACAACATTAAG c.2820
P V K K Q P Q K P R G G Q R V S D N I K p.940
. . . . . . g.68661
AAAGAAACTCCGTTCCTTGAGGTTATAACTCATGAGTTACAAGACTTTGCTGTAGATGAT c.2880
K E T P F L E V I T H E L Q D F A V D D p.960
. | 29 . . . | 30 . g.72513
CCACATGATGACAAG | GAAGAGCAAGATCTGGATCAACAGGGAAATGAG | GAAAACCTATTT c.2940
P H D D K | E E Q D L D Q Q G N E | E N L F p.980
. . . . . . g.72573
GATTCTTTGACAGGCCAGCCACATCCTGAAGATGTACTACTGTTTGCCATTCCAATATGT c.3000
D S L T G Q P H P E D V L L F A I P I C p.1000
. . | 31 . . . g.72717
GCCCCTTACACCACCATGACAAACTACAA | ATATAAAGTGAAACTTACTCCTGGAGTGCAG c.3060
A P Y T T M T N Y K | Y K V K L T P G V Q p.1020
. | 32 . . . . . g.72864
AAAAAGGGAAAAG | CTGCAAAAACAGCCTTGAATAGTTTCATGCATTCCAAAGAAGCAACA c.3120
K K G K A | A K T A L N S F M H S K E A T p.1040
. . . | 33 . . . g.73135
GCAAGAGAAAAAGACTTATTCCGCAGCGTAAAG | GACACAGATTTATCAAGAAACATTCCT c.3180
A R E K D L F R S V K | D T D L S R N I P p.1060
. . . . . g.73186
GGCAAAGTGAAAGTGTCTGCACCCAATCTTCTGAATGTAAAAAGGAAATAG c.3231
G K V K V S A P N L L N V K R K X p.1076
. . . . . . g.73246
ctgaaatgaaattctaaaatatttgagaagagccaattttatagccttttggaagttcaa c.*60
. . . . . . g.73306
agatgaaagcaccatgtatcaggatttccgcattataaaaatgaactaaacattgccttg c.*120
. . . . . . g.73366
ctatattcaccaaaaggacttacttcttgttttttcccagttttatatagaggaaacact c.*180
. . . . . . g.73426
gtctatgataggatttccaaaagtatttgtggacagttaaatgctaattaatatacatct c.*240
. . . . . . g.73486
gtagttattctacattttcttgaaatttgggaggttaataccaagtattcatttcatgat c.*300
. . . . . . g.73546
gtaaagaaactgaacagtgaagtggcttgattgcttaaactattgacttggtaagtctac c.*360
. . . . . . g.73606
tgtatataacatctaatatatatattacaggccaaatgaactaaacattgccttgctata c.*420
. . . . . . g.73666
ttcaccaaaaggacttaattcttgtttttttcccagttttatatagaggaaacactatga c.*480
. . . . . . g.73726
taggatttcctaaagtatttgtggacagttaaatgctaattatatacatctgtagttatt c.*540
. . . . . . g.73786
ctacattttcttgaaatttgggaggttaataccaagtattcatttcatgatgtaaagaaa c.*600
. . . . . . g.73846
ctgaacagtgaagtggcttgattgcttaaactattgacttggtaagtctactgtatataa c.*660
. . . . . . g.73906
catctaatatatatatattataggccagctacaaggggtttaaatatttaggattgtgtc c.*720
. . . . . . g.73966
ttgaaaactaagtattggagtggattttcttctgctttcattgatacttgtcagaaaaaa c.*780
. . . . g.74008
atattagaccaaaatgtaaaatataagtaataattctcatga c.*822
(downstream sequence)
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