(used for variant description)
(last modified December 2, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004408.2 in the DNM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029726.1, covering DNM1 transcript NM_004408.2.
(upstream sequence)
. . g.5027
gggcgcgcggctgcagcggcggagccg c.-61
. . . . . . g.5087
gagtcggagccgggagcgctagcggcagccggatcgcagcctgcggggcccgccgcagcc c.-1
. . . . . . g.5147
ATGGGCAACCGCGGCATGGAAGATCTCATCCCGCTGGTCAACCGGCTGCAAGACGCCTTC c.60
M G N R G M E D L I P L V N R L Q D A F p.20
. . . . . . g.5207
TCTGCCATCGGCCAGAACGCGGACCTCGACCTGCCGCAGATCGCTGTGGTGGGCGGCCAG c.120
S A I G Q N A D L D L P Q I A V V G G Q p.40
. . . . | 02 . . g.19866
AGCGCCGGCAAGAGCTCGGTGCTCGAGAATTTCGTAGGCAG | GGACTTCTTGCCTCGAGGA c.180
S A G K S S V L E N F V G R | D F L P R G p.60
. . . . . | 03 . g.20203
TCTGGCATTGTCACCCGACGTCCCCTGGTCTTGCAGCTGGTCAATGCAACCACAG | AATAT c.240
S G I V T R R P L V L Q L V N A T T E | Y p.80
. . . . . . g.20263
GCCGAGTTCCTGCACTGCAAGGGAAAGAAATTCACCGACTTCGAGGAGGTGCGCCTTGAG c.300
A E F L H C K G K K F T D F E E V R L E p.100
. . . . . . g.20323
ATCGAGGCCGAGACCGACAGGGTCACCGGCACCAACAAGGGCATCTCGCCGGTGCCTATC c.360
I E A E T D R V T G T N K G I S P V P I p.120
. . | 04 . . . . g.20700
AACCTCCGCGTCTACTCGCCGCACG | TGCTGAACCTGACCCTGGTGGACCTGCCCGGAATG c.420
N L R V Y S P H V | L N L T L V D L P G M p.140
. . . . . . g.20760
ACCAAGGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGATCCGAGACATGCTT c.480
T K V P V G D Q P P D I E F Q I R D M L p.160
. . . . . . g.20820
ATGCAGTTTGTCACCAAGGAGAACTGCCTCATCCTGGCCGTGTCCCCCGCCAACTCTGAC c.540
M Q F V T K E N C L I L A V S P A N S D p.180
. . . . | 05 . g.21615
CTGGCCAATTCTGACGCCCTCAAGGTCGCCAAGGAGGTGGACCCCCAGG | GCCAGCGCACC c.600
L A N S D A L K V A K E V D P Q G | Q R T p.200
. . . . . . g.21675
ATCGGGGTCATCACCAAGCTGGACCTGATGGACGAGGGCACAGATGCCCGTGATGTGCTG c.660
I G V I T K L D L M D E G T D A R D V L p.220
. . | 06 . . . g.21829
GAGAACAAGCTGCTCCCCCTGCGCAGAG | GCTACATTGGAGTGGTGAACCGGAGCCAGAAG c.720
E N K L L P L R R G | Y I G V V N R S Q K p.240
. . . . . . g.21889
GACATTGATGGCAAGAAGGACATTACCGCCGCCTTGGCTGCTGAACGAAAGTTCTTCCTC c.780
D I D G K K D I T A A L A A E R K F F L p.260
. . . . . . g.21949
TCCCATCCATCTTATCGCCACTTGGCTGACCGTATGGGCACGCCCTACCTGCAGAAGGTC c.840
S H P S Y R H L A D R M G T P Y L Q K V p.280
| 07 . . . . . g.23864
CTCAATCAG | CAACTGACGAACCACATCCGGGACACACTGCCGGGGCTGCGGAACAAGCTG c.900
L N Q | Q L T N H I R D T L P G L R N K L p.300
. . . . . . g.23924
CAGAGCCAGCTACTGTCCATTGAGAAGGAGGTGGAGGAATACAAGAACTTCCGCCCTGAT c.960
Q S Q L L S I E K E V E E Y K N F R P D p.320
. . . | 08 . . . g.24105
GACCCAGCTCGCAAGACCAAGGCCCTGCTGCA | GATGGTCCAGCAGTTCGCCGTAGACTTT c.1020
D P A R K T K A L L Q | M V Q Q F A V D F p.340
. . . . . . g.24165
GAGAAGCGCATTGAGGGCTCAGGAGATCAGATCGACACCTACGAACTGTCAGGGGGAGCC c.1080
E K R I E G S G D Q I D T Y E L S G G A p.360
. . . . | 09 . g.24421
CGCATTAACCGAATCTTCCACGAGCGCTTCCCTTTCGAGCTGGTCAAG | ATGGAGTTTGAT c.1140
R I N R I F H E R F P F E L V K | M E F D p.380
. . . . . | 10 . g.25871
GAGAAGGAACTCCGAAGGGAGATCAGCTATGCTATCAAGAATATCCATGGCATTAG | AACG c.1200
E K E L R R E I S Y A I K N I H G I R | T p.400
. . . . . . g.25931
GGGCTGTTTACCCCAGACATGGCCTTTGAGACCATTGTGAAAAAGCAGGTGAAGAAGATC c.1260
G L F T P D M A F E T I V K K Q V K K I p.420
. . . . . . g.25991
CGAGAACCGTGTCTCAAGTGTGTGGACATGGTTATCTCGGAGCTAATCAGCACCGTTAGA c.1320
R E P C L K C V D M V I S E L I S T V R p.440
. | 11 . . . . . g.35682
CAGTGCACCAAGAAG | CTCCAGCAGTACCCGCGGCTACGGGAGGAGATGGAGCGCATCGTG c.1380
Q C T K K | L Q Q Y P R L R E E M E R I V p.460
. . . . | 12 . . g.41079
ACCACCCACATCCGGGAGCGCGAGGGCCGCACTAAGGAGCAG | GTCATGCTTCTCATCGAT c.1440
T T H I R E R E G R T K E Q | V M L L I D p.480
. . . . . | 13 . g.41351
ATCGAGCTGGCTTACATGAACACCAACCATGAGGACTTCATAGGCTTTGCCAA | TGCTCAG c.1500
I E L A Y M N T N H E D F I G F A N | A Q p.500
. . . . | 14 . | 15. g.43851
CAGAGGAGCAACCAGATGAACAAGAAGAAGACTTCAGGGAACCAG | GATGAGATTCTG | GTC c.1560
Q R S N Q M N K K K T S G N Q | D E I L | V p.520
. . . . . . g.43911
ATCCGCAAGGGCTGGCTGACTATCAATAATATTGGCATCATGAAAGGGGGCTCCAAGGAG c.1620
I R K G W L T I N N I G I M K G G S K E p.540
. . . . . | 16 . g.48019
TACTGGTTTGTGCTGACTGCTGAGAATCTGTCCTGGTACAAGGATGATGAG | GAGAAAGAG c.1680
Y W F V L T A E N L S W Y K D D E | E K E p.560
. . . . . . g.48079
AAGAAATACATGCTGTCTGTGGACAACCTCAAGCTGCGGGACGTGGAGAAGGGCTTTATG c.1740
K K Y M L S V D N L K L R D V E K G F M p.580
. . . . | 17 . . g.49010
TCGAGCAAGCATATCTTTGCCCTCTTTAACACGGAGCAGAG | GAATGTCTACAAGGATTAT c.1800
S S K H I F A L F N T E Q R | N V Y K D Y p.600
. . . . . . g.49070
CGGCAGCTGGAGCTAGCCTGTGAGACACAGGAGGAGGTGGACAGCTGGAAGGCCTCCTTC c.1860
R Q L E L A C E T Q E E V D S W K A S F p.620
. . . | 18 . | 19 . . g.50214
CTGAGGGCTGGCGTGTACCCTGAGCGTGTTGGG | GACAAAGAGAAA | GCCAGCGAGACCGAG c.1920
L R A G V Y P E R V G | D K E K | A S E T E p.640
. . . . . . g.50274
GAGAATGGCTCCGACAGCTTCATGCATTCCATGGACCCACAGCTGGAACGGCAAGTGGAG c.1980
E N G S D S F M H S M D P Q L E R Q V E p.660
. . . . . . g.50334
ACCATCCGGAATCTTGTGGACTCATACATGGCCATTGTCAACAAGACCGTGAGGGACCTC c.2040
T I R N L V D S Y M A I V N K T V R D L p.680
. . . | 20 . . . g.51755
ATGCCCAAGACCATCATGCACCTCATGATTAACAAT | ACCAAGGAGTTCATCTTCTCGGAG c.2100
M P K T I M H L M I N N | T K E F I F S E p.700
. . . . . . g.51815
CTGCTGGCCAACCTGTACTCGTGTGGGGACCAGAACACGCTGATGGAGGAGTCGGCGGAG c.2160
L L A N L Y S C G D Q N T L M E E S A E p.720
. . . . . . g.51875
CAGGCACAGCGGCGCGACGAGATGCTGCGCATGTACCACGCACTGAAGGAGGCGCTCAGC c.2220
Q A Q R R D E M L R M Y H A L K E A L S p.740
. . . . . . g.51935
ATCATCGGCGACATCAACACGACCACCGTCAGCACGCCCATGCCCCCGCCCGTGGACGAC c.2280
I I G D I N T T T V S T P M P P P V D D p.760
. . . | 21 . . g.52363
TCCTGGCTGCAGGTGCAGAGCGTACCGGCCGGACGCAG | GTCGCCCACGTCCAGCCCCACG c.2340
S W L Q V Q S V P A G R R | S P T S S P T p.780
. . . . . . g.52423
CCGCAGCGCCGAGCCCCCGCCGTGCCCCCAGCCCGGCCCGGGTCGCGGGGCCCTGCTCCT c.2400
P Q R R A P A V P P A R P G S R G P A P p.800
. . . . . . g.52483
GGGCCTCCGCCTGCTGGGTCCGCCCTGGGGGGGGCGCCCCCCGTGCCCTCCAGGCCGGGG c.2460
G P P P A G S A L G G A P P V P S R P G p.820
. . . . . . g.52543
GCTTCCCCTGACCCTTTCGGCCCTCCCCCTCAGGTGCCCTCGCGCCCCAACCGCGCCCCG c.2520
A S P D P F G P P P Q V P S R P N R A P p.840
. | 22 . . . . . g.56316
CCCGGGGTCCCCAG | CCGATCGGGTCAGGCAAGTCCATCCCGTCCTGAGAGCCCCAGGCCC c.2580
P G V P S | R S G Q A S P S R P E S P R P p.860
. g.56331
CCCTTCGACCTCTAA c.2595
P F D L X p.864
. . . . . . g.56391
acagatccctcctcttctcggagacctccctttccaagcctgcctggacggctgttctgt c.*60
. . . . . . g.56451
gacttgacagtggctcccccagccccaaagccagcccccttcatctgtgacttaatctgt c.*120
. . . . . . g.56511
tgtagtggtgagctgatacattcaggtgtgaccgttggtgaaaacttgtgccccttctgt c.*180
. . . . . . g.56571
ggtatgcccttgccctgttctataaatatctataaatactcatatatatacacacctaca c.*240
. . . . . . g.56631
catggccaaccgcctcgcctctagcgctgggaatcagtcactgtgctatccttgtggagt c.*300
. . . . . . g.56691
cttgtggcccaactaccagagaacgctgtcccccgacatcccactccaaagtgtgccacc c.*360
. . . . . . g.56751
tccagtgagcctccttgtcatgcccggcctgtggacagccagcccccgccatccctccca c.*420
. . . . . . g.56811
ccccctaccaagcatgggggtgctgtgcaggcagccgtgtggcctgacagtttctaccag c.*480
. . . . . g.56865
tcctgctgtccctcggctgagaataaaacccatttctggatgatggggaatgtc c.*534
(downstream sequence)
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