(used for mutation description)
(last modified May 21, 2012)
This file was created to facilitate the description of sequence variants in the MFN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007945.1, covering MFN2 transcript NM_014874.3.
(upstream sequence)
. . . g.5033
atgatgcagtgggagtccgagcctctgcgtcgt c.-421
. . . . . . g.5093
ccgcttgggacgcgccggcggaggagtggcgcgcggaggagtggcgcgctgagacgccgc c.-361
. . . . . . g.5153
tcgaagcgccgagtcgcggggcagcagaggcgtaaggagtaggcggggcgagccggctgg c.-301
. . . . . . g.5213
gctcagggtccaccagctcacccgggtcgaggggcaatctgaggcgactggtgacgcgct c.-241
. . . . . . g.5273
tatccacttccctcctcccgcctccccctggggtggcgctcgctggtgacgtagtgagtg c.-181
. . . . | 02 . . g.6818
tgatggccgccgcgaggccgggaaggtgaag | tcaggactggtggagtcaacacagtcaat c.-121
. . . . . . g.6878
caatagccaacctcaacctgagacaggacagaagagaactcagaatctttttgtcttttg c.-61
. . . . . . | 03 g.13988
gacttcagccatgtccatgatgcctaccctgtgaagatctctcaccatccaaaaaa | cgca c.-1
. . . . . . g.14048
ATGTCCCTGCTCTTCTCTCGATGCAACTCTATCGTCACAGTCAAGAAAAATAAGAGACAC c.60
M S L L F S R C N S I V T V K K N K R H p.20
. . . . . . g.14108
ATGGCTGAGGTGAATGCATCCCCACTTAAGCACTTTGTCACTGCCAAGAAGAAGATCAAT c.120
M A E V N A S P L K H F V T A K K K I N p.40
. . . . . | 04 . g.17379
GGCATTTTTGAGCAGCTGGGGGCCTACATCCAGGAGAGCGCCACCTTCCTTGAAG | ACACG c.180
G I F E Q L G A Y I Q E S A T F L E D | T p.60
. . . . . . g.17439
TACAGGAATGCAGAACTGGACCCCGTTACCACAGAAGAACAGGTTCTGGACGTCAAAGGT c.240
Y R N A E L D P V T T E E Q V L D V K G p.80
. . . . . . g.17499
TACCTATCCAAAGTGAGAGGCATCAGTGAGGTGCTGGCTCGGAGGCACATGAAAGTGGCT c.300
Y L S K V R G I S E V L A R R H M K V A p.100
. | 05 . . . . . g.21024
TTTTTTGGCCG | GACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAA c.360
F F G R | T S N G K S T V I N A M L W D K p.120
. . . . . . g.21084
GTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGTAGAGGGCACAGAT c.420
V L P S G I G H T T N C F L R V E G T D p.140
. . . . . | 06 . g.22122
GGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAG | ACTGTG c.480
G H E A F L L T E G S E E K R S A K | T V p.160
. . . . . . g.22182
AACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGT c.540
N Q L A H A L H Q D K Q L H A G S L V S p.180
. . . . . | 07 g.23590
GTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAG | C c.600
V M W P N S K C P L L K D D L V L M D S | p.200
. . . . . . g.23650
CCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCT c.660
P G I D V T T E L D S W I D K F C L D A p.220
. . . . | 08 . g.23819
GATGTGTTTGTGCTGGTGGCCAACTCAGAGTCCACCCTGATGCAGACG | GAAAAGCACTTC c.720
D V F V L V A N S E S T L M Q T | E K H F p.240
. . . . . . g.23879
TTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGG c.780
F H K V S E R L S R P N I F I L N N R W p.260
. . . | 09 . . . g.26244
GATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAG | GTGCGGCGGCAGCACATGGAGCGT c.840
D A S A S E P E Y M E E | V R R Q H M E R p.280
. . . . . . g.26304
TGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGC c.900
C T S F L V D E L G V V D R S Q A G D R p.300
. . . . . . g.26364
ATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATG c.960
I F F V S A K E V L N A R I Q K A Q G M p.320
. | 10 . . . . . g.26638
CCTGAAGGAG | GGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAAT c.1020
P E G G | G A L A E G F Q V R M F E F Q N p.340
. | 11 . . . . g.26843
TTTGAGAGGAGATTTGAG | GAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAG c.1080
F E R R F E | E C I S Q S A V K T K F E Q p.360
. . . . . . g.26903
CACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCAC c.1140
H T V R A K Q I A E A V R L I M D S L H p.380
. . | 12 . . . . g.28851
ATGGCGGCTCGGGAGCAGCA | GGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGA c.1200
M A A R E Q Q | V Y C E E M R E E R Q D R p.400
. . . . . . g.28911
CTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAG c.1260
L K F I D K Q L E L L A Q D Y K L R I K p.420
. . | 13. . . . g.29361
CAGATTACGGAGGAAGTGGAGAGGCAG | GTGTCGACTGCAATGGCCGAGGAGATCAGGCGC c.1320
Q I T E E V E R Q | V S T A M A E E I R R p.440
. . . . . . g.29421
CTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAG c.1380
L S V L V D D Y Q M D F H P S P V V L K p.460
. | 14 . . . . . g.29692
GTTTATAAGAAT | GAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGAC c.1440
V Y K N | E L H R H I E E G L G R N M S D p.480
. . . . . | 15 . g.30535
CGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAG | ATGGC c.1500
R C S T A I T N S L Q T M Q Q D M I D | G p.500
. . . . . . g.30595
TTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAG c.1560
L K P L L P V S V R S Q I D M L V P R Q p.520
. . . . . . g.30655
TGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGAC c.1620
C F S L N Y D L N C D K L C A D F Q E D p.540
. . . . . . g.30715
ATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAG c.1680
I E F H F S L G W T M L V N R F L G P K p.560
. . . | 16 . . . g.31381
AACAGCCGTCGGGCCTTGATGGGCTACAATGACCAG | GTCCAGCGTCCCATCCCTCTGACG c.1740
N S R R A L M G Y N D Q | V Q R P I P L T p.580
. . . . . . g.31441
CCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATG c.1800
P A N P S M P P L P Q G S L T Q E E F M p.600
. . . . . . g.31501
GTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTT c.1860
V S M V T G L A S L T S R T S M G I L V p.620
. | 17 . . . . . g.31920
GTTGGAGGAGTG | GTGTGGAAGGCAGTGGGCTGGCGGCTCATTGCCCTCTCCTTTGGGCTC c.1920
V G G V | V W K A V G W R L I A L S F G L p.640
. . . . . . g.31980
TATGGCCTCCTCTACGTCTATGAGCGTCTGACCTGGACCACCAAGGCCAAGGAGAGGGCC c.1980
Y G L L Y V Y E R L T W T T K A K E R A p.660
. . . . . . g.32040
TTCAAGCGCCAGTTTGTGGAGCATGCCAGCGAGAAGCTGCAGCTTGTCATCAGCTACACT c.2040
F K R Q F V E H A S E K L Q L V I S Y T p.680
. . | 18 . . . g.34442
GGCTCCAACTGCAGCCACCAAGTCCAGCA | GGAACTGTCTGGGACCTTTGCTCATCTGTGT c.2100
G S N C S H Q V Q Q | E L S G T F A H L C p.700
. . . . . . g.34502
CAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAA c.2160
Q Q V D V T R E N L E Q E I A A M N K K p.720
. . . . | 19 . . g.36331
ATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAG | GAATAAAGCCGGTTGG c.2220
I E V L D S L Q S K A K L L R | N K A G W p.740
. . . . . g.36385
TTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAG c.2274
L D S E L N M F T H Q Y L Q P S R X p.757
. . . . . . g.36445
tgggcacctgaggcggagtctgcgtggagaggggcggtgctgccagccctaagtgccatg c.*60
. . . . . . g.36505
tgggctcccccaggggcacgtgtggctcctgccccctggccactgccaagagaatgaagc c.*120
. . . . . . g.36565
acccagtctcgtaccattttgagccctccagcactacttattttcccccacctttgcctg c.*180
. . . . . . g.36625
ctgttgctggaagagctggctcatacccccaaaggacactttcagcgacagctatggaca c.*240
. . . . . . g.36685
gcatggtaccaaggagttaagttgaggctttttccagctttctctggttcatttgattgc c.*300
. . . . . . g.36745
ttgataaggcctcaggatctcagcattgcacaatgcctcatggaagcctttgagggtatc c.*360
. . . . . . g.36805
acacagacacccccaccttcctccagcctgtgcgcacctgccctccttgcagcccagcac c.*420
. . . . . . g.36865
acctgcaggtgtaagggacgattggagtttcttcccagagagtctgtcccagaaggactg c.*480
. . . . . . g.36925
tggcttgtgtgtgtccatctcgcctgttggctcagtgcttcatcccatttgcagagcctc c.*540
. . . . . . g.36985
agacacgtcttggtggtgaggctcagttacccctgggcttaggctgaggcgggccctgtg c.*600
. . . . . . g.37045
ctgggggtggtagaaaggatgctgctgaggcagctggaggagtgggagtagctcagaggg c.*660
. . . . . . g.37105
gagggctgttggatgtatggggagctggcagagcaggtggcagtcactgggacaaggagg c.*720
. . . . . . g.37165
gacttgcctctcttctcattattgtgtcctttgctttagtgtcagtcctggacttgtgca c.*780
. . . . . . g.37225
ggcctgttttgtgtagatctgttttggaagatggcatggtctaggtggttgaaggatgta c.*840
. . . . . . g.37285
gtagaaggatggatggtggaaggtggggacgttggtggctggctgaggtgcatgggcccc c.*900
. . . . . . g.37345
acacaggacagctggagaatgggccgtccacttggcctcgttctgcgaggggctcatggg c.*960
. . . . . . g.37405
tctgagagcccccacccactaggcttgattgcatccctgttgtgccctttaagagacatg c.*1020
. . . . . . g.37465
tttccaccccacccccaaccttgtcccaagtgccctggactaaatttcctgtgccagtga c.*1080
. . . . . . g.37525
ctgcagttggccaagggacaatgtggaaaacccagtgtccatctttccaccctccctgat c.*1140
. . . . . . g.37585
ctccagaaccttcgactgacccccttgtctttatgctgatgttgagttttgggattgtta c.*1200
. . . . . . g.37645
ctggttgaagtgggggcagatgcctgtcaccaaggtgttgactgtgtgagaaaagcagtt c.*1260
. . . . . . g.37705
tgggtgacaaatcctgtgtggcacaagttggatcgcttcctagaaataagcaacacctct c.*1320
. . . . . . g.37765
cccaaaaagcagcccacaaggcaggggcccagcagcccagccatcactcatctttgagga c.*1380
. . . . . . g.37825
aatgagttggtagcctctgtgcactgtttggtggccacatcacaggtgatgtcctgttca c.*1440
. . . . . . g.37885
catacctgcttgtatttaaagccctcagtctgtcctgttgtgtggggcgaagtgatggac c.*1500
. . . . . . g.37945
tctgccaggtggacatgctgtgggtggatgttcccggcgtgtgccgggcctgaatggaca c.*1560
. . . . . . g.38005
ggggccacttcacagcatgtcagggaaaatcactgtcacacaattccaatggattttgtg c.*1620
. . . . . . g.38065
ctctttttgaaaaaaaaaaattctttagcgtaaacatgaattttttttcaatgtagcccc c.*1680
. . . . . . g.38125
tggggaatgaatgaaattttgagcttcttcaatacgtaaaattaaatttataccactgag c.*1740
. . . . . . g.38185
ggagagaccctttctgaaagaagtatggccaaaagcactttaatgctgctgacattgttg c.*1800
. . . . . . g.38245
tttttatgttcatttgctggagcgcaagacgtgctgacacagtgagttttctctgatgta c.*1860
. . . . . . g.38305
tttaaggtgatgtatttgcttgagttactcctgtatcattgctcataatattggaaacta c.*1920
. . . g.38335
aaataaaacctagttggaaatcctttgtga c.*1950
(downstream sequence)
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