(used for mutation description)
(last modified January 7, 2011)
This file was created to facilitate the description of sequence variants in the DNM2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008792.1, covering DNM2 transcript variant-1 (NM_001005360.2). Transcript variant-2 (NM_001005361.2) contains an alternatively spliced exon 10 (exon 10b). Transcript variant-5 (NM_001190716.1) uses an alternative splice site in exon 21. Transcript variant-3 (NM_004945.3) does not contain exon 14. Transcript variant-4 (NM_001005362.2) lacks exon 14 and contains alternatively spliced exon 10b.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. g.4984
gaggtcgctc c.-181
. . . . . . g.5044
gggtcgggtgtcgcctgagaaccggatgaggcggcgaccgtgaggccgagccgggagcgg c.-121
. . . . . . g.5104
gcgtcttgccgaggcccgggcgggcggggagcaacggctacagacgccgcggggccaggt c.-61
. . . . . . g.5164
cgttgagggtcggcggcgggcgaggagcgcagggcgctcgggccgggggccgccggcgcc c.-1
. . . . . . g.5224
ATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTC c.60
M G N R G M E E L I P L V N K L Q D A F p.20
. . . . . . g.5284
AGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAG c.120
S S I G Q S C H L D L P Q I A V V G G Q p.40
. . . . | 02 . . g.46678
AGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCG | GGACTTCCTTCCCCGCGGT 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.59405
TCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAG | AACAT c.240
S G I V T R R P L I L Q L I F S K T E | H p.80
. . . . . . g.59465
GCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAG c.300
A E F L H C K S K K F T D F D E V R Q E p.100
. . . . . . g.59525
ATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATC 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.62659
AACCTTCGAGTCTACTCGCCACACG | TGTTGAACTTGACCCTCATCGACCTCCCGGGTATC c.420
N L R V Y S P H V | L N L T L I D L P G I p.140
. . . . . . g.62719
ACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATC c.480
T K V P V G D Q P P D I E Y Q I K D M I p.160
. . . . . . g.62779
CTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGAC c.540
L Q F I S R E S S L I L A V T P A N M D p.180
. . . . | 05 . g.64050
CTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAG | GCCTACGGACC c.600
L A N S D A L K L A K E V D P Q G | L R T p.200
. . . . . . g.64110
ATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTG 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.69913
GAGAACAAGTTGCTCCCGTTGAGAAGAG | GCTACATTGGCGTGGTGAACCGCAGCCAGAAG 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.69973
GATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTC c.780
D I E G K K D I R A A L A A E R K F F L p.260
. . . . . . g.70033
TCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACG c.840
S H P A Y R H M A D R M G T P H L Q K T p.280
| 07 . . . . . g.73536
CTGAATCAG | CAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTA c.900
L N Q | Q L T N H I R E S L P A L R S K L p.300
. . . . . . g.73596
CAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGAC c.960
Q S Q L L S L E K E V E E Y K N F R P D p.320
. . . | 08 . . . g.80669
GACCCCACCCGCAAAACCAAAGCCCTGCTGCA | GATGGTCCAGCAGTTTGGGGTGGATTTT c.1020
D P T R K T K A L L Q | M V Q Q F G V D F p.340
. . . . . . g.80729
GAGAAGAGGATCGAGGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCC c.1080
E K R I E G S G D Q V D T L E L S G G A p.360
. . . . | 09 . g.82305
CGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTGGTGAAG | ATGGAGTTTGAC 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.82986
GAGAAGGACTTACGACGGGAGATCAGCTATGCCATTAAGAACATCCATGGAGTCAG | GACC c.1200
E K D L R R E I S Y A I K N I H G V R | T p.400
^ alternatively spliced exon
. . . . . . g.83046
GGGCTTTTCACCCCGGACTTGGCATTCGAGGCCATTGTGAAAAAGCAGGTCGTCAAGCTG c.1260
G L F T P D L A F E A I V K K Q V V K L p.420
. . . . . . g.83106
AAAGAGCCCTGTCTGAAATGTGTCGACCTGGTTATCCAGGAGCTAATCAATACAGTTAGG c.1320
K E P C L K C V D L V I Q E L I N T V R p.440
. | 11 . . . . . g.85452
CAGTGTACCAGTAAG | CTCAGTTCCTACCCCCGGTTGCGAGAGGAGACAGAGCGAATCGTC c.1380
Q C T S K | L S S Y P R L R E E T E R I V p.460
^ intron with alternatively spliced exon 10b
. . . . | 12 . . g.89227
ACCACTTACATCCGGGAACGGGAGGGGAGAACGAAGGACCAG | ATTCTTCTGCTGATCGAC c.1440
T T Y I R E R E G R T K D Q | I L L L I D p.480
. . . . . | 13 . g.92844
ATTGAGCAGTCCTACATCAACACGAACCATGAGGACTTCATCGGGTTTGCCAA | TGCCCAG c.1500
I E Q S Y I N T N H E D F I G F A N | A Q p.500
. . . . | 14 . | 15. g.99188
CAGAGGAGCACGCAGCTGAACAAGAAGAGAGCCATCCCCAATCAG | GGGGAGATCCTG | GTG c.1560
Q R S T Q L N K K R A I P N Q | G E I L | V p.520
^ ^ alternatively spliced exon
. . . . . . g.99248
ATCCGCAGGGGCTGGCTGACCATCAACAACATCAGCCTGATGAAAGGCGGCTCCAAGGAG c.1620
I R R G W L T I N N I S L M K G G S K E p.540
. . . . . | 16 . g.106910
TACTGGTTTGTGCTGACTGCCGAGTCACTGTCCTGGTACAAGGATGAGGAG | GAGAAAGAG c.1680
Y W F V L T A E S L S W Y K D E E | E K E p.560
. . . . . . g.106970
AAGAAGTACATGCTGCCTCTGGACAACCTCAAGATCCGTGATGTGGAGAAGGGCTTCATG c.1740
K K Y M L P L D N L K I R D V E K G F M p.580
. . . . | 17 . . g.110728
TCCAACAAGCACGTCTTCGCCATCTTCAACACGGAGCAGAG | AAACGTCTACAAGGACCTG c.1800
S N K H V F A I F N T E Q R | N V Y K D L p.600
. . . . . . g.110788
CGGCAGATCGAGCTGGCCTGTGACTCCCAGGAAGACGTGGACAGCTGGAAGGCCTCGTTC c.1860
R Q I E L A C D S Q E D V D S W K A S F p.620
. . . | 18 . . . g.112005
CTCCGAGCTGGCGTCTACCCCGAGAAGGACCAG | GCAGAAAACGAGGATGGGGCCCAGGAG c.1920
L R A G V Y P E K D Q | A E N E D G A Q E p.640
. . . . . . g.112065
AACACCTTCTCCATGGACCCCCAACTGGAGCGGCAGGTGGAGACCATTCGCAACCTGGTG c.1980
N T F S M D P Q L E R Q V E T I R N L V p.660
. . . . . . g.112125
GACTCATACGTGGCCATCATCAACAAGTCCATCCGCGACCTCATGCCAAAGACCATCATG c.2040
D S Y V A I I N K S I R D L M P K T I M p.680
. | 19 . . . . g.115999
CACCTCATGATCAACAAT | ACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATAC c.2100
H L M I N N | T K A F I H H E L L A Y L Y p.700
. . . . . . g.116059
TCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGACCAGGCACAGCGGCGGGAC c.2160
S S A D Q S S L M E E S A D Q A Q R R D p.720
. . . . . . g.116119
GACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGC c.2220
D M L R M Y H A L K E A L N I I G D I S p.740
. . . . . . g.116179
ACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCC c.2280
T S T V S T P V P P P V D D T W L Q S A p.760
. | 20 . . . . . g.117097
AGCAGCCACAG | CCCCACTCCACAGCGCCGACCGGTGTCCAGCATACACCCCCCTGGCCGG c.2340
S S H S | P T P Q R R P V S S I H P P G R p.780
. . . . . . g.117157
CCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCA c.2400
P P A V R G P T P G P P L I P V P V G A p.800
. . . . . . g.117217
GCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCC c.2460
A A S F S A P P I P S R P G P Q S V F A p.820
. . . . . . g.117277
AACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGGCCAGTTCGGATCCCCCCA c.2520
N S D L F P A P P Q I P S R P V R I P P p.840
. . | 21 / . . . . g.117936
GGGATTCCCCCAGGAGTGCCCAG | CAG / AAGACCCCCTGCTGCGCCCAGCCGGCCCACCATT c.2580
G I P P G V P S | R / R P P A A P S R P T I p.860
^ alternative splice site (transcript variant-4)
. . . g.117969
ATCCGCCCAGCCGAGCCATCCCTGCTCGACTAG c.2613
I R P A E P S L L D X p.870
. . . . . . g.118029
gcctcgaggggggcgtgctctcgggggggcctcacgcacccgcggcgcaggagcttcagt c.*60
. . . . . . g.118089
ggtctggggccctccgccgcccctatgctgggaccaggctcccagtgggcagccctggcc c.*120
. . . . . . g.118149
tcttccttaacgctggccccggtccagggccggcccctgtgcctggctggacaccgcact c.*180
. . . . . . g.118209
gcgcaaaggggccctggagctccaggcagggggcgctggggtgttgcactttgggggatg c.*240
. . . . . . g.118269
gagtctcagggtggcagaggggggaccagaacccttgacaccatcctgaatgaggggtcc c.*300
. . . . . . g.118329
agcctgggggggactctaccaaggtcttcttgggctgggaaagcccatgtagggcaggcc c.*360
. . . . . . g.118389
ttctataagtgcgggcaccaagggcgcctacatccccaggccttgctggggtgcaggggt c.*420
. . . . . . g.118449
atatcaacttcccattagcaggagctccccagcggcaagcctggcccagtgggctcggta c.*480
. . . . . . g.118509
gtgcccagctggcaggcctgaggtgtacatagtccttcccggccatattaaccacacagc c.*540
. . . . . . g.118569
ctgagcctggcccagcctcggctgccagaggtgcctttgctaggcccggagccgttggcc c.*600
. . . . . . g.118629
cgggccggccttgccctattcctctcctcctcctcctcctgggtcccccagggtggctgg c.*660
. . . . . . g.118689
gcttgggctatgtgggtggtggtggcggggggtcttgggggcctctcagctcccgcccat c.*720
. . . . . . g.118749
gcctccctgatgggtgggcccagggcggcctctctctgaggagacctcacccactcctcg c.*780
. . . . . . g.118809
ctcagtttgaccactgtaagtgcctgcactctgtattctattaataaactaaaataaagg c.*840
. . g.118832
gaagacgctgctggtggctgctg c.*863
(downstream sequence)
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