(used for variant description)
(last modified January 17, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003611.2 in the OFD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008872.1, covering OFD1 transcript NM_003611.2.
(upstream sequence)
. . . . . g.5059
aaggctatatttagcaggtttccggaagttgccggactggctgtgaggcggtcctgcct c.-301
. . . . . . g.5119
cgctgccttcagtccctagtgtctgggtccccgccctccagccgcctttgagtcgtgcct c.-241
. . . . . . g.5179
gggtcctcgcccttgcctcagaaccgcgaagaaaggaagctcgcgtgtttgctagaaaac c.-181
. . . . . . g.5239
ctagttgggagtgcgaggcagagaacgttcagcacctttgttcctcccgaaccctcggga c.-121
. . . . . . g.5299
cagaggcagggttctgagggcagggattccccctcgtcttggccccaccgcccgggctgg c.-61
. . . . . . g.5359
gcactaaactcgggccgcggcggggcgagcgaggcgggctccggagggagctgacgcctg c.-1
. | 02 . . . . . g.5583
ATGATGGCGCAG | TCCAACATGTTTACCGTGGCTGATGTGTTGAGTCAAGATGAACTGCGC c.60
M M A Q | S N M F T V A D V L S Q D E L R p.20
. . . . . | 03 . g.6774
AAAAAGCTATACCAGACGTTTAAGGATCGGGGTATACTGGATACACTCAAG | ACACAACTT c.120
K K L Y Q T F K D R G I L D T L K | T Q L p.40
. . . . . . g.6834
CGAAACCAGCTAATTCATGAGTTGATGCACCCTGTATTGAGTGGAGAACTGCAGCCTCGG c.180
R N Q L I H E L M H P V L S G E L Q P R p.60
. . . . . . g.6894
TCCATTTCAGTAGAAGGGAGCTCCCTCTTAATAGGCGCCTCTAACTCTTTAGTGGCAGAT c.240
S I S V E G S S L L I G A S N S L V A D p.80
. . . . . . g.6954
CACTTACAAAGATGTGGCTATGAATATTCACTTTCTGTTTTCTTTCCAGAAAGTGGTTTG c.300
H L Q R C G Y E Y S L S V F F P E S G L p.100
. | 04 . . . . . g.9181
GCAAAAGAAAAG | GTATTTACTATGCAGGATCTATTACAACTCATTAAAATCAACCCTACT c.360
A K E K | V F T M Q D L L Q L I K I N P T p.120
. . | 05 . . . | 06 . g.14710
TCCAGTCTCTACAAATCACTG | GTTTCAGGATCTGATAAAGAAAATCAAAAAG | GTTTTCTT c.420
S S L Y K S L | V S G S D K E N Q K G | F L p.140
. . . . . . g.14770
ATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAA c.480
M H F L K E L A E Y H Q A K E S C N M E p.160
. . . | 07. . . g.16629
ACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGG | CTGAGAAGCTTCAGCTTATTGAT c.540
T Q T S S T F N R D S L A | E K L Q L I D p.180
. . . . . . g.16689
GATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTA c.600
D Q F A D A Y P Q R I K F E S L E I K L p.200
. . . . . | 08 . g.17073
AATGAGTATAAGAGAGAAATAGAAGAGCAACTTCGGGCAGAAATGTGTCAAAAG | TTGAAG c.660
N E Y K R E I E E Q L R A E M C Q K | L K p.220
. . . . . . g.17133
TTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAG c.720
F F K D T E I A K I K M E A K K K Y E K p.240
. . . . . . g.17193
GAGTTAACCATGTTCCAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTC c.780
E L T M F Q N D F E K A C Q A K S E A L p.260
. . . . | 09 . g.19726
GTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAG | ATTGAAACAAAA c.840
V L R E K S T L E R I H K H Q E | I E T K p.280
. . . . . . g.19786
GAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAA c.900
E I Y A Q R Q L L L K D M D L L R G R E p.300
. . . | 10 . . . g.21561
GCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATT | GAACCAGAAGCTCCAGGAAGAAAAA c.960
A E L K Q R V E A F E L | N Q K L Q E E K p.320
. . . . . . g.21621
CATAAAAGCATAACTGAGGCACTTAGGAGACAGGAGCAGAATATAAAGAGTTTTGAGGAG c.1020
H K S I T E A L R R Q E Q N I K S F E E p.340
. . . | 11 . . . g.23680
ACCTATGACCGAAAGCTCAAGAATGAACTTCTAAA | GTATCAACTTGAACTGAAGGATGAC c.1080
T Y D R K L K N E L L K | Y Q L E L K D D p.360
. . . . | 12 . g.25449
TACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAG | AAAAAGCTGTT c.1140
Y I I R T N R L I E D E R K N K E | K A V p.380
. . . . . . g.25509
CATTTGCAAGAGGAGCTCATAGCTATTAATTCAAAAAAGGAGGAACTCAATCAATCTGTA c.1200
H L Q E E L I A I N S K K E E L N Q S V p.400
. . | 13 . . . . g.26904
AATCGTGTGAAAGAACTTGAG | CTTGAATTAGAGTCTGTCAAAGCCCAGTCTTTGGCAATA c.1260
N R V K E L E | L E L E S V K A Q S L A I p.420
. . . . . . g.26964
ACAAAACAAAACCATATGCTGAATGAAAAGGTTAAAGAGATGAGTGATTATTCACTACTA c.1320
T K Q N H M L N E K V K E M S D Y S L L p.440
. . . . . . g.27024
AAAGAAGAGAAACTGGAGCTTCTGGCACAAAATAAATTACTTAAACAACAACTGGAAGAG c.1380
K E E K L E L L A Q N K L L K Q Q L E E p.460
. . . | 14 . . . g.27976
AGTAGAAATGAAAACCTGCGTCTCCTAAACC | GCCTAGCTCAGCCGGCTCCTGAACTTGCA c.1440
S R N E N L R L L N R | L A Q P A P E L A p.480
. . . . . . g.28036
GTCTTTCAGAAAGAACTACGGAAAGCCGAAAAGGCTATAGTGGTTGAGCATGAGGAGTTC c.1500
V F Q K E L R K A E K A I V V E H E E F p.500
. . . . | 15 . . g.28642
GAAAGCTGCAGGCAAGCTCTGCACAAACAACTGCAAGACGAA | ATTGAGCATTCTGCACAG c.1560
E S C R Q A L H K Q L Q D E | I E H S A Q p.520
. . . . . . g.28702
CTGAAGGCCCAGATTCTAGGTTACAAAGCTTCTGTAAAGAGTTTAACTACTCAGGTTGCC c.1620
L K A Q I L G Y K A S V K S L T T Q V A p.540
. . . | 16 . . . g.30428
GATTTAAAATTGCAACTGAAGCAAACTCAGACAG | CCCTAGAGAATGAAGTGTACTGCAAT c.1680
D L K L Q L K Q T Q T A | L E N E V Y C N p.560
. . . . . . g.30488
CCAAAGCAGTCTGTGATCGATCGTTCTGTCAATGGATTAATAAATGGCAATGTGGTGCCT c.1740
P K Q S V I D R S V N G L I N G N V V P p.580
. . . . . . g.30548
TGCAATGGTGAGATAAGTGGGGATTTCTTGAACAATCCTTTTAAACAGGAAAACGTTCTA c.1800
C N G E I S G D F L N N P F K Q E N V L p.600
. . . . . . g.30608
GCACGTATGGTTGCATCAAGGATCACAAATTATCCAACTGCATGGGTGGAGGGTAGTTCC c.1860
A R M V A S R I T N Y P T A W V E G S S p.620
. . . . . . g.30668
CCTGATTCTGACCTTGAGTTTGTAGCCAATACTAAGGCAAGGGTCAAAGAGCTTCAGCAA c.1920
P D S D L E F V A N T K A R V K E L Q Q p.640
. . . . . . g.30728
GAGGCCGAACGCTTGGAAAAGGCTTTCAGAAGTTACCATCGGAGAGTCATTAAAAACTCT c.1980
E A E R L E K A F R S Y H R R V I K N S p.660
. . . . . . g.30788
GCCAAAAGCCCACTAGCAGCAAAGAGCCCACCATCTCTGCACTTGCTGGAAGCCTTCAAA c.2040
A K S P L A A K S P P S L H L L E A F K p.680
. . . . . . g.30848
AACATTACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAGAGTTGTCTCTGAG c.2100
N I T S S S P E R H I F G E D R V V S E p.700
. . . . . . g.30908
CAGCCTCAAGTGGGCACACTTGAAGAAAGGAATGACGTCGTGGAAGCACTGACAGGCAGT c.2160
Q P Q V G T L E E R N D V V E A L T G S p.720
. . . . . . g.30968
GCAGCCTCGAGGCTCCGCGGGGGCACTTCCTCCAGACGCCTCTCTTCCACACCCCTTCCA c.2220
A A S R L R G G T S S R R L S S T P L P p.740
. . . . | 17 . . g.31392
AAAGCAAAAAGAAGCCTCGAAAGTGAAATGTATCTGGAAG | GTCTGGGCAGATCACACATT c.2280
K A K R S L E S E M Y L E G | L G R S H I p.760
. . . . . . g.31452
GCTTCCCCCAGTCCTTGTCCTGACAGAATGCCCCTACCATCACCCACTGAGTCTAGGCAC c.2340
A S P S P C P D R M P L P S P T E S R H p.780
. . . . | 18. . g.32644
AGCCTCTCCATCCCTCCTGTCTCCAGCCCTCCGGAGCAGAAAGTGGG | TCTTTATCGAAGA c.2400
S L S I P P V S S P P E Q K V G | L Y R R p.800
. . . . . . g.32704
CAAACTGAACTTCAAGACAAAAGTGAATTTTCAGATGTGGACAAGCTAGCTTTTAAGGAT c.2460
Q T E L Q D K S E F S D V D K L A F K D p.820
. . | 19 . . . g.34064
AATGAGGAGTTTGAATCATCTTTTGAAT | CTGCAGGGAACATGCCAAGGCAGTTGGAAATG c.2520
N E E F E S S F E S | A G N M P R Q L E M p.840
. . . . . . g.34124
GGCGGGCTTTCTCCTGCCGGGGATATGTCTCATGTGGACGCTGCTGCAGCTGCTGTGCCC c.2580
G G L S P A G D M S H V D A A A A A V P p.860
. | 20 . . . . g.37455
CTCTCATATCAGCACCCAA | GTGTAGATCAGAAACAAATTGAAGAACAAAAGGAAGAAGAA c.2640
L S Y Q H P S | V D Q K Q I E E Q K E E E p.880
. . . . . . g.37515
AAAATACGGGAACAGCAAGTGAAAGAACGAAGGCAGAGAGAAGAAAGAAGGCAGAGTAAC c.2700
K I R E Q Q V K E R R Q R E E R R Q S N p.900
. . . . . | 21. g.38344
CTACAAGAAGTTTTAGAAAGGGAACGAAGAGAACTAGAAAAACTGTATCAGGAAAGG | AAG c.2760
L Q E V L E R E R R E L E K L Y Q E R | K p.920
. . . . . . g.38404
ATGATTGAAGAATCACTGAAGATTAAAATAAAAAAGGAATTAGAAATGGAAAATGAATTA c.2820
M I E E S L K I K I K K E L E M E N E L p.940
. . . . . . g.38464
GAAATGAGTAATCAAGAAATAAAAGACAAATCTGCTCACAGTGAAAATCCTTTAGAGAAA c.2880
E M S N Q E I K D K S A H S E N P L E K p.960
. . . . | 22 . g.39017
TACATGAAAATCATCCAGCAGGAGCAAGACCAGGAGTCGGCAGATAAG | AGCTCAAAAAAG c.2940
Y M K I I Q Q E Q D Q E S A D K | S S K K p.980
. . . . . | 23 . g.39357
ATGGTCCAAGAAGGCTCCCTAGTGGACACGCTGCAATCTAGTGACAAAGTCGAAAG | TTTA c.3000
M V Q E G S L V D T L Q S S D K V E S | L p.1000
. . . g.39396
ACAGGCTTTTCTCATGAAGAACTAGACGACTCTTGGTAA c.3039
T G F S H E E L D D S W X p.1012
. . . . . . g.39456
ccatgtttgctgcccagcttctaacttacataccgtgagaagttacgtaacatttactcc c.*60
. . . . . . g.39516
tttgtaaatgtttccctatcatcagacaaaactcaataaaaatgtgtgtaatccaatgtg c.*120
. . . . . . g.39576
ggtttttttttccataattaattttgataccatagtgtgtgaaccaagaataatctagtc c.*180
. . . . . . g.39636
acgtgaaacctcttctccagtcatagtatttctcattcattataataaaagtaactggct c.*240
. g.39649
tttaacctcctta c.*253
(downstream sequence)
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