(used for variant description)
(last modified February 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_144596.2 in the TTC8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008126.1, covering TTC8 transcript NM_144596.2.
(upstream sequence)
. g.5014
gacgccgccagctc c.-61
. . . . . . g.5074
ttcactccacgcccacctctctcctggagcgctgggccttcgctggccgcaccggcagcc c.-1
. . . . . . g.5134
ATGAGCTCGGAGATGGAGCCGCTGCTCCTGGCCTGGAGCTATTTTAGGCGCAGGAAGTTC c.60
M S S E M E P L L L A W S Y F R R R K F p.20
. . . . . | 02 . g.14065
CAGCTCTGCGCCGATCTATGCACGCAGATGCTGGAGAAGTCCCCTTATGACCAG | GAACCA c.120
Q L C A D L C T Q M L E K S P Y D Q | E P p.40
. . | 03 . . . . g.19854
GATCCTGAATTGCCAGTGCATCAG | GCAGCTTGGATCTTAAAAGCAAGAGCGCTAACAGAA c.180
D P E L P V H Q | A A W I L K A R A L T E p.60
. . . . . . g.19914
ATGGTATACATAGATGAAATTGATGTAGATCAGGAAGGAATTGCAGAAATGATGCTGGAT c.240
M V Y I D E I D V D Q E G I A E M M L D p.80
. . | 04 . . . . g.21266
GAAAATGCTATAGCTCAAGTTCCAC | GCCCTGGAACGTCTTTGAAACTCCCTGGAACTAAT c.300
E N A I A Q V P R | P G T S L K L P G T N p.100
. . | 05 . . . g.21434
CAGACAGGAGGGCCTAGCCAGGCCGTTAG | GCCAATCACACAAGCTGGAAGACCCATTACA c.360
Q T G G P S Q A V R | P I T Q A G R P I T p.120
. . . . . . g.21494
GGTTTCCTCAGGCCCAGCACGCAGAGTGGAAGGCCAGGCACTATGGAACAGGCTATCAGA c.420
G F L R P S T Q S G R P G T M E Q A I R p.140
. . . . . . g.21554
ACACCCAGAACCGCCTACACAGCCCGCCCTATCACCAGCTCCTCCGGAAGATTTGTCAGG c.480
T P R T A Y T A R P I T S S S G R F V R p.160
| 06 . . . . . g.21842
CTGGGAACG | GCTTCCATGCTTACAAGTCCTGATGGACCATTTATAAATTTATCTAGGCTG c.540
L G T | A S M L T S P D G P F I N L S R L p.180
. . . | 07 . . g.24193
AATTTAACAAAGTATTCCCAGAAACCTAAGTTGGCAAAG | GCTTTGTTTGAGTATATCTTT c.600
N L T K Y S Q K P K L A K | A L F E Y I F p.200
. . | 08 . . . . g.33373
CATCATGAAAATGATGTTAAGACT | GCTTTGGATCTGGCTGCCCTCTCCACAGAACATTCT c.660
H H E N D V K T | A L D L A A L S T E H S p.220
. . . . . | 09 . g.37566
CAGTACAAGGACTGGTGGTGGAAAGTACAGATTGGAAAATGTTACTACAG | GTTGGGAATG c.720
Q Y K D W W W K V Q I G K C Y Y R | L G M p.240
. . . . . . g.37626
TATCGTGAAGCAGAAAAACAGTTTAAATCAGCCCTGAAGCAGCAGGAAATGGTAGATACA c.780
Y R E A E K Q F K S A L K Q Q E M V D T p.260
. | 10 . . . . g.41630
TTTCTGTACTTGGCAAAA | GTTTATGTCTCATTGGATCAACCTGTGACTGCTTTAAATCTT c.840
F L Y L A K | V Y V S L D Q P V T A L N L p.280
. . . . . . g.41690
TTCAAACAAGGCTTAGATAAGTTTCCAGGAGAAGTAACCCTGCTCTGTGGAATTGCAAGA c.900
F K Q G L D K F P G E V T L L C G I A R p.300
| 11 . . . . . g.50476
ATCTATGAG | GAAATGAACAATATGTCATCAGCAGCAGAATATTACAAAGAAGTTTTGAAA c.960
I Y E | E M N N M S S A A E Y Y K E V L K p.320
. . . . . . g.50536
CAAGACAATACTCATGTGGAAGCCATCGCATGCATTGGAAGCAACCACTTCTATTCTGAT c.1020
Q D N T H V E A I A C I G S N H F Y S D p.340
. . | 12 . . . g.51946
CAGCCAGAAATAGCTCTCCGGTTTTACAG | GCGGCTGCTGCAGATGGGCATTTATAACGGC c.1080
Q P E I A L R F Y R | R L L Q M G I Y N G p.360
. . . . . . g.52006
CAGCTTTTTAACAATCTGGGGCTGTGTTGCTTCTATGCCCAGCAGTATGATATGACTCTG c.1140
Q L F N N L G L C C F Y A Q Q Y D M T L p.380
. . . . . . g.52066
ACCTCATTTGAACGTGCCCTTTCTTTGGCTGAAAATGAAGAAGAGGCAGCTGATGTCTGG c.1200
T S F E R A L S L A E N E E E A A D V W p.400
. . | 13 . . . . g.52732
TACAACTTGGGACATGTAGCTGTG | GGAATAGGAGATACAAATTTGGCCCATCAGTGCTTC c.1260
Y N L G H V A V | G I G D T N L A H Q C F p.420
. . . . . . g.52792
AGGCTGGCTCTGGTCAACAACAACAACCACGCCGAGGCCTACAACAACCTGGCTGTGCTG c.1320
R L A L V N N N N H A E A Y N N L A V L p.440
. . | 14. . . . g.55425
GAGATGCGGAAGGGCCACGTTGAACAG | GCAAGGGCACTATTACAAACTGCATCATCATTA c.1380
E M R K G H V E Q | A R A L L Q T A S S L p.460
. . . . . | 15 . g.57669
GCACCCCATATGTATGAACCGCATTTTAATTTTGCAACAATCTCTGATAAG | ATTGGAGAT c.1440
A P H M Y E P H F N F A T I S D K | I G D p.480
. . . . . . g.57729
CTGCAGAGAAGCTATGTTGCTGCGCAGAAGTCTGAAGCAGCATTTCCAGACCATGTGGAC c.1500
L Q R S Y V A A Q K S E A A F P D H V D p.500
. . . . g.57777
ACACAACATTTAATTAAACAATTAAGGCAGCATTTTGCTATGCTCTGA c.1548
T Q H L I K Q L R Q H F A M L X p.515
. . . . . . g.57837
ttgttccttagaccacatatgttcttatgaagcagcattatgcaaggggaaaaaagcact c.*60
. . . . . . g.57897
atgtctgtgtatgtatgtatatagtgtaatacgtatattttaacaaacctgtccttgata c.*120
. . . . . . g.57957
ttagttaaggtgacacataagggtgacacagaatgtgtaatgcaaatttcatagtaatag c.*180
. . . . . . g.58017
taactttataaaataatattataaaatacaggatttaaacctttctaaatagatcctgaa c.*240
. . . . . . g.58077
actgtctctcacattatatagtagatgtttgtttataatgtttacaaaacattttggtga c.*300
. . . . . . g.58137
atttcctcaatgttttataaatgtacattttttaagtccttaagctgactcttagccatc c.*360
. . . . . . g.58197
atgtagcttaaggagtctgaaatctgccattaaaactgcacctttaagccaggtgtggta c.*420
. . . . . . g.58257
gcatgtgcctatagtcccagctacttgggaggtggaggtgggaggattataaatagagac c.*480
. . . . . . g.58317
tttccttaagactttaaaaatgtatttaaaactattttttattaaatactttgtgatttc c.*540
. . . . g.58358
ctattaagctttaaaataaatcattgtgtaaaacaccatca c.*581
(downstream sequence)
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