(used for variant description)
(last modified January 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_017868.3 in the TTC12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering TTC12 transcript NM_017868.3.
(upstream sequence)
. . . . g.5045
cttggtcccgccccgggcccctggctcctggccccgccccagccc c.-61
. . . . . | 02 . g.6729
aggcaggtcactgcgccatttcctgtccaaagctgggcgaatcag | ggattccggttcaca c.-1
. . . . . | 03 g.13761
ATGGATGCTGATAAAGAGAAAGATTTGCAGAAATTTCTTAAAAATGTGGATGAAATCT | CC c.60
M D A D K E K D L Q K F L K N V D E I S | p.20
. . . . . . g.13821
AATTTAATTCAGGAGATGAATTCTGATGACCCAGTTGTGCAACAGAAAGCTGTCCTGGAG c.120
N L I Q E M N S D D P V V Q Q K A V L E p.40
. . . . . . g.13881
ACAGAAAAGAGACTACTGCTTATGGAGGAAGACCAGGAGGAGGATGAATGCAGGACCACC c.180
T E K R L L L M E E D Q E E D E C R T T p.60
. . . . | 04 . . g.14483
TTGAACAAGACTATGATCAGTCCTCCACAAACTGCTATGAAG | AGTGCAGAAGAAATAAAC c.240
L N K T M I S P P Q T A M K | S A E E I N p.80
| 05 . . . . . . g.15132
TCAG | AGGCCTTCTTGGCATCTGTGGAGAAGGATGCAAAGGAACGAGCCAAGAGAAGAAGG c.300
S E | A F L A S V E K D A K E R A K R R R p.100
. . | 06 . . . . g.16033
GAAAACAAAGTCTTGGCGGATG | CCCTAAAAGAAAAAGGGAATGAAGCATTTGCTGAAGGC c.360
E N K V L A D A | L K E K G N E A F A E G p.120
. . . . . . g.16093
AATTATGAAACAGCTATCCTGCGCTACAGTGAGGGTTTGGAGAAGCTGAAGGACATGAAA c.420
N Y E T A I L R Y S E G L E K L K D M K p.140
. . | 07 . . . . g.20427
GTGCTGTACACCAACCGAGCCCAG | GCTTATATGAAACTTGAGGACTATGAGAAGGCACTG c.480
V L Y T N R A Q | A Y M K L E D Y E K A L p.160
. . | 08 . . . . g.25473
GTGGATTGTGAGTGGGCTCTCAAG | TGTGATGAAAAATGCACAAAAGCATATTTTCACATG c.540
V D C E W A L K | C D E K C T K A Y F H M p.180
. . . | 09 . . . g.29269
GGAAAAGCCAACCTGGCCCTGAAGAACTACAGTGTG | TCTAGAGAGTGTTATAAGAAGATC c.600
G K A N L A L K N Y S V | S R E C Y K K I p.200
. . . | 10. . . g.29780
TTAGAAATAAACCCCAAGCTGCAAACCCAGGTGAAAG | GTTACCTGAATCAAGTAGATCTT c.660
L E I N P K L Q T Q V K G | Y L N Q V D L p.220
. . . . . . g.29840
CAGGAAAAAGCAGACCTTCAAGAAAAGGAAGCCCACGAACTGCTGGATTCAGGAAAGAAC c.720
Q E K A D L Q E K E A H E L L D S G K N p.240
. . . . . . g.29900
ACAGCCGTGACCACCAAGAACCTCCTGGAGACCCTTTCCAAGCCTGACCAGATCCCCTTG c.780
T A V T T K N L L E T L S K P D Q I P L p.260
. . . . | 11 . . g.31149
TTCTATGCTGGGGGGATTGAGATCCTGACTGAAATGATAAATGAGT | GCACAGAACAAACT c.840
F Y A G G I E I L T E M I N E C | T E Q T p.280
. . . . . | 12 . g.32312
TTATTCAGAATGCACAATGGATTTAGTATCATCAGTGACAACGAGGTCATAAGAAG | GTGT c.900
L F R M H N G F S I I S D N E V I R R | C p.300
. . . . . . g.32372
TTTTCCACAGCAGGAAATGATGCAGTTGAAGAAATGGTCTGTGTGTCTGTTCTCAAGCTC c.960
F S T A G N D A V E E M V C V S V L K L p.320
. . | 13 . . . . g.34778
TGGCAAGCAGTGTGCAGCAGGAACG | AGGAAAACCAGCGTGTGCTAGTGATACACCATGAC c.1020
W Q A V C S R N E | E N Q R V L V I H H D p.340
. . . . . . g.34838
AGGGCCAGGCTGTTGGCCGCCCTCTTGTCCTCCAAGGTCCTGGCCATCCGGCAGCAGAGC c.1080
R A R L L A A L L S S K V L A I R Q Q S p.360
. . . . . . g.34898
TTTGCCCTGCTGCTGCATCTCGCCCAGACTGAGAGCGGACGGAGCCTGATCATCAACCAC c.1140
F A L L L H L A Q T E S G R S L I I N H p.380
. | 14 . . . . . g.40590
CTTGACCTGACCAG | ATTATTGGAAGCGCTGGTGTCATTTCTTGATTTCTCGGATAAGGAG c.1200
L D L T R | L L E A L V S F L D F S D K E p.400
. . . . | 15. . g.41723
GCCAACACTGCTATGGGACTGTTCACAGACTTGGCTCTGGAAGAAAG | ATTCCAAGTCTGG c.1260
A N T A M G L F T D L A L E E R | F Q V W p.420
. . . . | 16 . g.42553
TTCCAGGCCAACCTTCCAGGTGTTCTCCCTGCACTCACAGGCGTTCTG | AAGACAGATCCC c.1320
F Q A N L P G V L P A L T G V L | K T D P p.440
. . . . . . g.42613
AAGGTAAGCAGCTCCTCGGCTCTGTGCCAGTGCATTGCCATCATGGGAAACCTCAGTGCT c.1380
K V S S S S A L C Q C I A I M G N L S A p.460
. . . . . . g.42673
GAGCCCACTACCCGAAGACACATGGCGGCCTGTGAGGAATTTGGGGATGGCTGCTTGAGC c.1440
E P T T R R H M A A C E E F G D G C L S p.480
| 17 . . . . . . g.49888
CTCCTG | GCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTG c.1500
L L | A R C E E D V D L F R E V I Y T L L p.500
. . . . | 18 . . g.50426
GGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAG | GTTTGGGCTGTGGAG c.1560
G L M M N L C L Q A P F V S E | V W A V E p.520
. . . . . | 19 . g.52878
GTGAGCAGAAGGTGCCTGTCTTTACTAAACAGCCAGGATGGAGGAATCCTGACA | AGAGCT c.1620
V S R R C L S L L N S Q D G G I L T | R A p.540
. . . . . . g.52938
GCTGGTGTTCTGAGCCGGACCCTTTCTTCCTCTCTGAAAATTGTTGAGGAGGCCTTGCGA c.1680
A G V L S R T L S S S L K I V E E A L R p.560
. . . | 20 . . . g.54323
GCAGGAGTGGTAAAGAAAATGATGAAATTCCTGAAG | ACAGGAGGTGAGACTGCATCACGT c.1740
A G V V K K M M K F L K | T G G E T A S R p.580
. . . . . . g.54383
TATGCTATAAAGATACTAGCTATCTGCACGAATAGTTATCATGAAGCTCGGGAAGAAGTA c.1800
Y A I K I L A I C T N S Y H E A R E E V p.600
. | 21 . . . . . g.55350
ATAAGACTGGATAAAA | AGTTGAGCGTTATGATGAAGCTGCTCAGCTCGGAGGATGAGGTT c.1860
I R L D K K | L S V M M K L L S S E D E V p.620
. . . . . . g.55410
CTGGTGGGCAACGCTGCCCTCTGCCTTGGTAACTGCATGGAGGTGCCCAACGTTGCGTCT c.1920
L V G N A A L C L G N C M E V P N V A S p.640
. . . . . . g.55470
TCCCTGCTAAAGACGGACCTTTTGCAGGTCTTGTTAAAGCTTGCAGGCAGTGACACACAG c.1980
S L L K T D L L Q V L L K L A G S D T Q p.660
. . . . . . g.55530
AAGACGGCCGTGCAGGTGAACGCAGGCATTGCTCTGGGGAAGCTGTGCACAGCTGAGCCC c.2040
K T A V Q V N A G I A L G K L C T A E P p.680
| 22 . . . . . . g.56754
AG | ATTTGCTGCTCAACTGAGAAAGCTTCATGGCCTAGAAATTCTCAACTCTACGATGAAA c.2100
R | F A A Q L R K L H G L E I L N S T M K p.700
. g.56772
TACATCAGTGATTCTTGA c.2118
Y I S D S X p.705
. . . . . . g.56832
gagagacagggtttgtgtgcatttggggaacacacagatgcacaccgtgtgttgttccta c.*60
. . . g.56864
tgctaataaagacctttgatgtatccacttca c.*92
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 22
©2004-2020 Leiden University Medical Center