(used for variant description)
(last modified September 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_152574.2 in the TTC39B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering TTC39B transcript NM_152574.2.
(upstream sequence)
. . . g.5037
aagtggcccggccagcggcgcggcgtccggggaggaa c.-1
. . . . . . g.5097
ATGGATGCTGTGCTGGCCTGCCGGCTCCGGGGGCGGGGAAATCGAGTAGCTGCACTCAGG c.60
M D A V L A C R L R G R G N R V A A L R p.20
. . . . . . g.5157
CCCCGCCCGAGACCCGGAGGGAGCGCCGGGCCGTCCCCTTTTGCCCTCCTTTGCGCTGGG c.120
P R P R P G G S A G P S P F A L L C A G p.40
. . . . . . g.5217
CTGAGCCCAGAGCCGAGAGCAGGAGTCGGCTCTGAGTTCCCTGCTTGGTTTTTGGGTGGC c.180
L S P E P R A G V G S E F P A W F L G G p.60
. . . . . . g.5277
AGCAGCCAGAGGAGGAATATGGCGCTCTTAGGCAGCCGAGCGGAGCTGGAAGCGGACGAG c.240
S S Q R R N M A L L G S R A E L E A D E p.80
| 02 . . . | 03 . . . g.86373
| GACGTTTTCGAAGATGCCTTGGAAACCATCTCAAT | ATCTTCTCACTCAGATATGGCAACA c.300
| D V F E D A L E T I S I | S S H S D M A T p.100
. . . . . . g.86433
AGCAGCCTTCACTTTGCATCATGTGATACACAACAGGCGCCCAGACAGCGCGGAGCGTCT c.360
S S L H F A S C D T Q Q A P R Q R G A S p.120
. | 04 . . . . . g.98160
ACTGTCAGCAG | TTCATCATCAACCAAGGTGGATCTCAAGAGTGGCCTCGAAGAATGTGCT c.420
T V S S | S S S T K V D L K S G L E E C A p.140
. . . . . . g.98220
GTGGCATTGAACTTATTTCTAAGCAACAAATTTACAGACGCCTTAGAATTGCTTCGCCCC c.480
V A L N L F L S N K F T D A L E L L R P p.160
| 05 . . . . . . g.101021
TG | GGCTAAGGAGAGTATGTACCATGCCTTGGGCTACAGTACCATTGTGGTGTTGCAGGCT c.540
W | A K E S M Y H A L G Y S T I V V L Q A p.180
. . . . . . g.101081
GTCCTGACCTTCGAGCAACAGGACATCCAGAACGGCATTTCTGCCATGAAGGACGCTTTA c.600
V L T F E Q Q D I Q N G I S A M K D A L p.200
. | 06 . . . . . g.102242
CAAACCTGCCAAAA | ATACAGGAAAAAATACACAGTTGTAGAATCTTTCTCAAGTCTTCTT c.660
Q T C Q K | Y R K K Y T V V E S F S S L L p.220
. . . | 07 . . . g.108499
TCTAGAGGATCCCTGGAGCAACTGAGTGAAG | AGGAAATGCATGCTGAAATCTGTTATGCC c.720
S R G S L E Q L S E E | E M H A E I C Y A p.240
. . . | 08 . . g.112456
GAGTGTCTCCTACAGAAAGCTGCACTCACGTTTGTGCAG | GATGAAAATATGATCAACTTC c.780
E C L L Q K A A L T F V Q | D E N M I N F p.260
. . . . | 09 . . g.119681
ATCAAAGGTGGACTCAAAATTAGAACAAGTTACCAAATATATAA | AGAATGTCTTTCTATC c.840
I K G G L K I R T S Y Q I Y K | E C L S I p.280
. . . . . . g.119741
CTGCATGAAATTCAGAAGAACAAACTTCAGCAGGAATTCTTCTATGAGTTTGAAGGGGGT c.900
L H E I Q K N K L Q Q E F F Y E F E G G p.300
. . . | 10 . . . g.121135
GTCAAGCTTGGCAGTGGGGCCTTTAATTTG | ATGCTGTCCCTTTTACCAGCAAGGATTATC c.960
V K L G S G A F N L | M L S L L P A R I I p.320
. . . | 11 . . . g.121722
AGACTACTAGAATTTATTGGATTTTCTGGGAATAGG | GAGTTGGGCCTCCTGCAGTTACGT c.1020
R L L E F I G F S G N R | E L G L L Q L R p.340
. . . . . . g.121782
GAAGGTGCTTCAGGAAGGAGCATGAGGTCTGCACTGTGCTGCTTAACCATCTTAGCTTTT c.1080
E G A S G R S M R S A L C C L T I L A F p.360
. . | 12 . . . . g.122603
CATACTTACATCTCCCTAATACTTG | GTACAGGAGAAGTGAATGTTGCGGAAGCAGAGCGT c.1140
H T Y I S L I L G | T G E V N V A E A E R p.380
. . . | 13 . . . g.122754
CTCCTGGCACCCTTCCTCCAGCAGTTTCCAAAT | GGCTCACTCGTGTTGTTTTATCATGCC c.1200
L L A P F L Q Q F P N | G S L V L F Y H A p.400
. . . | 14 . . . g.124255
CGAATAGAGTTGCTGAAAGGGAATCTTGAAGAG | GCACAAGAAGTATTTCAAAAATGCATT c.1260
R I E L L K G N L E E | A Q E V F Q K C I p.420
. . . . . . g.124315
TCAGTTCAAGAAGAATGGAAACAGTTTCACCATCTCTGCTACTGGGAGCTAATGTGGATT c.1320
S V Q E E W K Q F H H L C Y W E L M W I p.440
. . . . . . g.124375
AATGTTTTCCAACAAAACTGGATGCAGGCATATTACTATTCAGATCTGCTTTGCAAAGAG c.1380
N V F Q Q N W M Q A Y Y Y S D L L C K E p.460
. | 15 . . . . . g.125370
AGTAAATGGTCCAAG | GCAACTTATGTGTTCTTGAAAGCAGCAATTTTGAGTATGCTTCCA c.1440
S K W S K | A T Y V F L K A A I L S M L P p.480
. . . . | 16. . g.126967
GAGGAGGATGTAGTAGCAACGAATGAGAATGTGGTAACTTTATTCAG | ACAGGTGGACAGC c.1500
E E D V V A T N E N V V T L F R | Q V D S p.500
. . . . . . g.127027
TTGAAGCAGAGAATTGCCGGGAAATCTATCCCTACTGAGAAGTTTGCTGTGAGGAAGGCT c.1560
L K Q R I A G K S I P T E K F A V R K A p.520
. . . . . | 17 . g.129951
CGGCGTTACTCCGCCTCCTTACCTGCACCTGTGAAGCTCATCTTACCTGCCCTG | GAAATG c.1620
R R Y S A S L P A P V K L I L P A L | E M p.540
. . . . . . g.130011
ATGTATGTCTGGAATGGTTTTTCAATAGTGAGCAAAAGAAAAGACCTTTCTGAAAATCTG c.1680
M Y V W N G F S I V S K R K D L S E N L p.560
. . . . | 18 . . g.134563
TTAGTAACTGTTGAAAAAGCTGAGGCAGCTTTACAAAGTCAAA | ATTTTAACAGCTTCTCT c.1740
L V T V E K A E A A L Q S Q N | F N S F S p.580
. . . . . . g.134623
GTGGATGATGAGTGCTTAGTGAAGTTACTTAAAGGATGTTGCCTCAAGAACTTACAGCGG c.1800
V D D E C L V K L L K G C C L K N L Q R p.600
. . . . | 19 . . g.137244
CCCTTGCAAGCTGAACTATGTTACAATCATGTTGTGGAAAG | TGAAAAGCTACTGAAGTAT c.1860
P L Q A E L C Y N H V V E S | E K L L K Y p.620
. . . . . . g.137304
GACCACTACCTAGTGCCGTTCACTCTATTTGAATTGGCATCTTTGTATAAAAGCCAGGGG c.1920
D H Y L V P F T L F E L A S L Y K S Q G p.640
. . . | 20 . . g.140273
GAAATTGACAAGGCCATAAAGTTCCTAGAAACTGCAAG | GAACAACTACAAAGATTACTCC c.1980
E I D K A I K F L E T A R | N N Y K D Y S p.660
. . . . . . g.140333
CTGGAGTCCAGACTACACTTCAGAATTCAGGCAGCTCTTCACCTCTGGAGAAAACCTTCC c.2040
L E S R L H F R I Q A A L H L W R K P S p.680
g.140342
TCAGATTGA c.2049
S D X p.682
. . . . . . g.140402
tcagaacttgaaggatggaatttttcctcaattagcatcggcatctgctatagattcaac c.*60
. . . . . . g.140462
cttatattaaagtggaaaaatgatcttgtgaataagagacaaaaaaacagtttttttggt c.*120
. . . . . . g.140522
caatattttctatcatctgagagatttactgttggtctacataattttttttcctatgga c.*180
. . . . . . g.140582
atggcattctatattatctagaaaattcttatattttgcctcccccaaaagaatttcata c.*240
. . . . . . g.140642
ttatttgaattagggggcgaagaagtcttttgaaagacttgcagatgcaatagtctaatt c.*300
. . . . . . g.140702
agattatttatttttttaatgtgaaaattaatattgtttagcaaatagcttacaagttga c.*360
. . . . . . g.140762
gccaattttggatttgttgggtagttaaacttcagagatattttgttgcctgtatttaaa c.*420
. . . . . . g.140822
tttcagaagataaataaatatcattgcatttaaaatagcttaacagtgaccttcagaaga c.*480
. . . . . . g.140882
cttctgaaaaagacagtctgagaacatgaacacggatcgatataatgtacttcatgggtt c.*540
. . . . . . g.140942
gaagagacctttctctataaaggatgatgcagtattcagttagtggttttttactcttca c.*600
. . . . . . g.141002
tttgattaaaggtggtgacgttttggagagactgattttgaatgtacttaagtctattat c.*660
. . . . . . g.141062
aataacaaaattcaaaacccctgtgtatctaaagggaaggaagtgtcatattttaggaat c.*720
. . . . . . g.141122
ttttcttaaccttagcaatgagagcctaaaatacatacatggattatttttcttctagga c.*780
. . . . . . g.141182
agtaaatttcctgctgctttaaatgatatgtaaaatatcaataatttttacacttaagat c.*840
. . . . . . g.141242
gttggtaagacctagttttctaatctctctagcactgtgatgtctccttgtagataatct c.*900
. . . . . . g.141302
ggaccttgcttagtcctttagttgggaaacagaatcagggcatagagcagaagagagctt c.*960
. . . . . . g.141362
gacactccatatggtcctggttctgctacccattagcgattagtgaggagacctttaggg c.*1020
. . . . . . g.141422
agtccactgtgccctgtgtgtcaccacattttcttctgtgaaatcaagattaaagaacag c.*1080
. . . . . . g.141482
atgactttcaaggtctttttcagttttataactgtgagtctatgtattaggtatttattt c.*1140
. . . g.141517
tcaacaaatgactttaaaatgtcgaatgcaaacca c.*1175
(downstream sequence)
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