(used for variant description)
(last modified March 6, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_021927.2 in the GUF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering GUF1 transcript NM_021927.2.
(upstream sequence)
. . g.5027
gtgcagacgtcggcaagctgcgccgcc c.-181
. . . . . . g.5087
gcttcgggttgcttccggatctggtacttgggcagagctccccggggttcattgtcttcg c.-121
. . . . . . g.5147
cttcacaggatctgtttgagtcctgtccaccggatcctacggggggtaccttcgaaaaaa c.-61
. . . . . . g.5207
aacgggctatgctgctgttgcgtgtgggtaccctctcctgacgcctccgccgcccgggtc c.-1
. . . . . . g.5267
ATGTGGACCCTCGTGGGTCGGGGCTGGGGGTGCGCACGCGCTCTCGCGCCACGAGCCACT c.60
M W T L V G R G W G C A R A L A P R A T p.20
. . . . . . g.5327
GGGGCCGCGCTTCTGGTGGCCCCGGGGCCCCGGTCCGCGCCGACCCTTGGGGCTGCTCCA c.120
G A A L L V A P G P R S A P T L G A A P p.40
. . . . | 02 . . g.7040
GAGTCCTGGGCTACCGACAGGCTCTACAGCTCCGCAGAATTCAAG | GAAAAACTTGACATG c.180
E S W A T D R L Y S S A E F K | E K L D M p.60
. . . . . . g.7100
TCTAGGTTTCCTGTTGAAAATATTAGAAATTTCAGTATTGTTGCACACGTGGATCATGGC c.240
S R F P V E N I R N F S I V A H V D H G p.80
. . . | 03. . . g.7301
AAAAGTACTTTAGCTGACAGGCTCCTAGAACTTACAG | GGACAATTGATAAAACAAAGAAT c.300
K S T L A D R L L E L T G | T I D K T K N p.100
. . . . . . g.7361
AATAAGCAGGTTCTTGATAAATTGCAAGTGGAACGAGAAAGAGGAATCACTGTTAAAGCA c.360
N K Q V L D K L Q V E R E R G I T V K A p.120
. . . . . . g.7421
CAGACAGCATCTCTCTTTTACAATTGTGAAGGAAAGCAGTACCTTTTAAATCTCATTGAT c.420
Q T A S L F Y N C E G K Q Y L L N L I D p.140
| 04 . . . . . . g.7761
ACACCG | GGCCATGTTGATTTTAGTTATGAAGTATCCAGGTCACTTTCTGCTTGCCAGGGT c.480
T P | G H V D F S Y E V S R S L S A C Q G p.160
. . | 05. . . . g.8951
GTTTTACTTGTGGTTGATGCAAATGAG | GGAATTCAAGCCCAAACTGTAGCAAACTTCTTT c.540
V L L V V D A N E | G I Q A Q T V A N F F p.180
. . . . | 06 . . g.9834
CTTGCCTTCGAAGCACAGCTATCGGTAATTCCAGTTATAAATAAG | ATAGATCTGAAGAAT c.600
L A F E A Q L S V I P V I N K | I D L K N p.200
. . . . . . g.9894
GCTGATCCTGAAAGGGTTGAAAACCAAATTGAGAAAGTGTTTGATATTCCAAGTGATGAA c.660
A D P E R V E N Q I E K V F D I P S D E p.220
| 07 . . . . . g.12594
TGTATTAAG | ATTTCTGCTAAACTTGGAACAAATGTTGAGAGTGTTCTTCAGGCAATTATT c.720
C I K | I S A K L G T N V E S V L Q A I I p.240
. | 08 . . . . . g.13140
GAAAGAATCCCCCC | TCCTAAAGTGCATCGCAAAAATCCTCTGAGAGCTTTGGTATTTGAC c.780
E R I P P | P K V H R K N P L R A L V F D p.260
. . . . . . g.13200
TCCACCTTTGACCAGTATAGAGGTGTGATAGCCAATGTAGCATTATTTGACGGAGTGGTT c.840
S T F D Q Y R G V I A N V A L F D G V V p.280
. . . . . . g.13260
TCCAAAGGAGATAAAATTGTATCTGCACATACTCAAAAGACATACGAAGTTAATGAAGTA c.900
S K G D K I V S A H T Q K T Y E V N E V p.300
. . . | 09 . . g.14613
GGAGTCTTGAATCCTAATGAGCAGCCAACTCATAAATT | ATATGCAGGACAGGTGGGCTAT c.960
G V L N P N E Q P T H K L | Y A G Q V G Y p.320
. . . . . . g.14673
CTGATTGCTGGGATGAAAGATGTCACTGAAGCGCAAATAGGAGATACATTATGTTTACAT c.1020
L I A G M K D V T E A Q I G D T L C L H p.340
. . . . . | 10 g.15872
AAGCAACCAGTGGAGCCCTTGCCTGGGTTTAAATCAGCGAAACCAATGGTATTTGCAG | GA c.1080
K Q P V E P L P G F K S A K P M V F A G | p.360
. . . . . . g.15932
ATGTATCCTCTAGACCAATCTGAATATAACAATCTGAAGAGTGCTATAGAAAAACTGACT c.1140
M Y P L D Q S E Y N N L K S A I E K L T p.380
. . . . . . g.15992
TTAAATGATTCCAGTGTGACCGTTCATCGGGATAGTAGCCTTGCTCTGGGTGCTGGCTGG c.1200
L N D S S V T V H R D S S L A L G A G W p.400
| 11 . . . . . . g.16485
AG | GCTAGGATTTCTTGGACTTTTGCACATGGAAGTTTTCAACCAGCGACTGGAGCAAGAA c.1260
R | L G F L G L L H M E V F N Q R L E Q E p.420
. . . . . . g.16545
TATAATGCTTCTGTTATTTTAACAACCCCTACTGTTCCATATAAAGCTGTACTGTCATCA c.1320
Y N A S V I L T T P T V P Y K A V L S S p.440
. | 12 . . . . . g.17346
TCAAAATTGATAAAG | GAACATAGAGAAAAAGAAATTACAATTATCAATCCTGCACAATTC c.1380
S K L I K | E H R E K E I T I I N P A Q F p.460
. . . . . . g.17406
CCCGATAAATCAAAAGTAACAGAATATTTGGAGCCAGTTGTTTTGGGCACTATTATCACA c.1440
P D K S K V T E Y L E P V V L G T I I T p.480
. . . | 13 . . g.18271
CCAGATGAATACACTGGAAAAATAATGATGCTTTGCGAG | GCTCGAAGAGCAGTTCAGAAG c.1500
P D E Y T G K I M M L C E | A R R A V Q K p.500
. . . . . . g.18331
AATATGATATTTATTGATCAAAATAGAGTTATGCTTAAATATCTCTTTCCTTTGAATGAA c.1560
N M I F I D Q N R V M L K Y L F P L N E p.520
. . . . . | 14 . g.21003
ATTGTGGTAGATTTTTATGACTCTTTGAAATCCCTATCTTCTGGATATGCTAG | TTTTGAT c.1620
I V V D F Y D S L K S L S S G Y A S | F D p.540
. . . . . . g.21063
TACGAAGATGCAGGCTACCAGACTGCAGAACTTGTAAAAATGGATATTCTACTGAATGGA c.1680
Y E D A G Y Q T A E L V K M D I L L N G p.560
. . . | 15 . . . g.22224
AATACTGTAGAGGAGCTAGTAACTGTTGTACACAA | AGACAAAGCTCATTCAATTGGCAAA c.1740
N T V E E L V T V V H K | D K A H S I G K p.580
. . . . . . g.22284
GCCATATGTGAACGGCTGAAGGATTCTCTTCCTAGGCAACTGTTTGAGATAGCAATTCAA c.1800
A I C E R L K D S L P R Q L F E I A I Q p.600
. . . | 16 . . . g.24017
GCTGCTATTGGAAGTAAAATCATTGCAAGAGAAAC | TGTGAAAGCCTATAGGAAAAACGTT c.1860
A A I G S K I I A R E T | V K A Y R K N V p.620
. | 17 . . . . . g.25176
TTGGCAAAATGT | TATGGTGGTGATATTACCCGAAAAATGAAGCTTTTGAAGAGACAAGCA c.1920
L A K C | Y G G D I T R K M K L L K R Q A p.640
. . . . . . g.25236
GAAGGGAAAAAAAAGCTGAGGAAAATTGGCAACGTTGAAGTTCCAAAAGATGCTTTTATA c.1980
E G K K K L R K I G N V E V P K D A F I p.660
. . . g.25266
AAAGTTCTGAAAACACAATCTTCTAAATAA c.2010
K V L K T Q S S K X p.669
. . . . . . g.25326
ttggtgggaaaacaaagaattttcattgcaatttgtaatatgctgacaacagaaagaaaa c.*60
. . . . . . g.25386
ttataaaatttgcttgttactttcagggtattcaggttcaaataacctactagtctttcg c.*120
. . . . . . g.25446
ttgaaagggagtagttagtgggtaggcaagagcttagattttgaagccatgttgcctgtt c.*180
. . . . . . g.25506
ctcaaatatctgttccaaccactcactagtaaggtgaccgtggccagattaacctttgtt c.*240
. . . . . . g.25566
tcctcttcagtaaaatcgagattatactactacctacataagttgttgttgtgaagatta c.*300
. . . . . . g.25626
aatgaggtaatacgttaaatattcagaggtgcaagacacatagtaagcactcaattgtaa c.*360
. . . . . . g.25686
ctacagttaagtccttaaatgccatcgaaaggttcttagaaactgactttaagcaaaatg c.*420
. . . . . . g.25746
acacgtagcacaatgttcttgaatgatgtcatttccttaagtggtttgtaacatcgatga c.*480
. . . . . . g.25806
ggaaaaaaaattggtttatgcgtcatttcattttatttttatttattttttgagacagag c.*540
. . . . . . g.25866
tcttgccctgtcgcccaggctggagtgcaatggcacaatctcgactcactgcaacctctg c.*600
. . . . . . g.25926
cctcctgggttcaagagattctcctgcctcagcctccattacaggcgtgcaccaccatgc c.*660
. . . . . . g.25986
tcggctaattttttgtatctttagtagagtcggggtttcaccatgttggccaggctggtc c.*720
. . . . . . g.26046
ttgaactcctgacctcgtgatccacccaccgtggcctcccaaagtgctgattacaggtgt c.*780
. . . . . . g.26106
gagccaccatgcccagccatgtcatttcatttaaagtcacaatttccatgaatctcaaca c.*840
. . . . . . g.26166
agtgaggacctgctatattttgttgcatgcagtttttctttacggacactaaaaggcccc c.*900
. . . . . . g.26226
atacttaagattccatctactttaagtttaaaggattttcagaatcaccttaagtgtcaa c.*960
. . . . . . g.26286
atttgttagcaggattaattgatatgaattcacttattaaacagtaaactcaaataacat c.*1020
. . . . . . g.26346
agacatcaaataacagacatctgctctagttaatgataaaatgtttatagattttatcag c.*1080
. . . . . . g.26406
gtggttagtttgaaactaaatggtttacatctaaattaagggcaggagctgtctttcaga c.*1140
. . . . . . g.26466
cattcaaaacgcatttgtgtaaaatgacaggtgtttggtattaccaggaactcataatga c.*1200
. . . . . . g.26526
cattttaataattattgtctaaatttcataatcgaagcgattttagagtagttaacttga c.*1260
. . . . . . g.26586
gatttcacagccagtaaatggctgtatttctccagagctctcagctcccatgtttattca c.*1320
. . . . . . g.26646
gccaacgaacaaaccagactgcagactgtattagagcaagacaacatcatttagccattg c.*1380
. . . . . . g.26706
atttttatcttctaccttgaatgaattgaatgaagaaaatgtcttttagggataaacact c.*1440
. . . . . . g.26766
atcaaggatgaattttatactaaggttatatgaaagaaaaatctcaaaaccactaagcca c.*1500
. . . . . . g.26826
aagggaagtcaagctgggaactgattgaggcaaacctgcctcccattttattcctaaata c.*1560
. . . . . . g.26886
agacagccacaaagataaaatttgctcacaagggaattccttatggacaaagaactcaaa c.*1620
. . . . . . g.26946
gtcttcacatgaaacaaatgcataaatgattgctttctctgtttcatgtttcactaagcc c.*1680
. . . . . . g.27006
agattaaggtataactgactattcctctactctcctctcacatgtaaattgtatattcag c.*1740
. . . . . . g.27066
tgaaaggctaatcagaaactcaaaaaaatgcaaccctttctctcttacctgcctatgctt c.*1800
. . . . . . g.27126
gaagcccccgcccctcttcaagttgtcctgcctttcaagaccaatgtacaccttacacat c.*1860
. . . . . . g.27186
actgattgatgtctcatgtctctctaaaatgtgtaaaaccaagctgtgccccaaccacct c.*1920
. . . . . . g.27246
tgggcacatgtggtgaggacctcctgaggctgtgtcatgggcacaccttaaccctgggaa c.*1980
. g.27265
aataaactttctaaactga c.*1999
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center