(used for variant description)
(last modified May 27, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_006657.2 in the FTCD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016191.1, covering FTCD transcript NM_006657.2.
(upstream sequence)
. . . . g.5044
cttccatctgcccagagaggagcatctggatcaaggtgctggcc c.-1
. . . . . | 02 . g.6241
ATGTCCCAGCTGGTGGAATGCGTCCCCAACTTTTCGGAGGGGAAGAACCAGGAG | GTGATC c.60
M S Q L V E C V P N F S E G K N Q E | V I p.20
. . . . . . g.6301
GACGCCATCTCTGGAGCCATCACACAGACCCCGGGCTGCGTGCTGCTGGATGTGGACGCA c.120
D A I S G A I T Q T P G C V L L D V D A p.40
. . . . . . g.6361
GGCCCTTCCACCAACCGCACCGTGTACACCTTCGTGGGGCCGCCGGAGTGCGTGGTGGAG c.180
G P S T N R T V Y T F V G P P E C V V E p.60
. . . . . | 03 g.7534
GGGGCCCTCAACGCTGCCCGGGTAGCTTCCCGACTTATCGACATGAGCAGGCACCAAG | GA c.240
G A L N A A R V A S R L I D M S R H Q G | p.80
. . . . . . g.7594
GAGCACCCCCGCATGGGGGCCCTAGACGTCTGCCCCTTCATCCCCGTGAGGGGCGTCAGC c.300
E H P R M G A L D V C P F I P V R G V S p.100
. . . . . . g.7654
GTGGATGAGTGTGTGCTCTGCGCCCAGGCCTTTGGCCAGAGGCTGGCAGAGGAGCTGGAC c.360
V D E C V L C A Q A F G Q R L A E E L D p.120
| 04. . . . . . g.8640
GTGCCAG | TTTACCTGTACGGCGAGGCAGCCAGGATGGACAGTCGCCGGACCCTGCCGGCC c.420
V P V | Y L Y G E A A R M D S R R T L P A p.140
. . . | 05 . . . g.8854
ATCCGGGCCGGGGAGTACGAGGCCCTCCCTAAGAAG | CTCCAGCAGGCCGACTGGGCGCCC c.480
I R A G E Y E A L P K K | L Q Q A D W A P p.160
. . . . . . g.8914
GACTTTGGTCCCAGCTCCTTTGTCCCCAGTTGGGGGGCCACGGCCACGGGGGCGAGGAAG c.540
D F G P S S F V P S W G A T A T G A R K p.180
. . . . . . g.8974
TTCCTCATTGCTTTTAACATCAACCTGCTCGGCACAAAGGAGCAAGCCCACCGCATCGCG c.600
F L I A F N I N L L G T K E Q A H R I A p.200
. . . | 06 . . . g.10066
CTCAACCTGCGGGAGCAGGGCCGCGGGAAGGACCAG | CCAGGACGTCTGAAGAAAGTTCAG c.660
L N L R E Q G R G K D Q | P G R L K K V Q p.220
. . . . . . g.10126
GGCATTGGCTGGTACCTGGATGAGAAGAACCTGGCTCAGGTGTCCACCAATCTTCTGGAC c.720
G I G W Y L D E K N L A Q V S T N L L D p.240
. . . . . | 07 . g.10323
TTTGAGGTCACGGCACTGCACACGGTCTACGAGGAGACCTGCCGAGAAGCACAG | GAGCTG c.780
F E V T A L H T V Y E E T C R E A Q | E L p.260
. . . . . . g.10383
AGCCTCCCAGTGGTGGGCTCACAGCTGGTGGGCCTGGTGCCCCTGAAGGCTCTGCTGGAT c.840
S L P V V G S Q L V G L V P L K A L L D p.280
. . . . . . g.10443
GCGGCCGCCTTCTACTGCGAGAAGGAGAACCTCTTCATCCTGGAGGAGGAGCAGCGGATC c.900
A A A F Y C E K E N L F I L E E E Q R I p.300
| 08 . . . . . . g.14294
AGGCTG | GTGGTGAGCCGGCTGGGCCTGGACTCCCTGTGCCCCTTCAGCCCTAAGGAGCGG c.960
R L | V V S R L G L D S L C P F S P K E R p.320
| 09 . . . . . g.14672
ATCATCGA | GTACCTGGTCCCTGAGCGCGGGCCTGAGCGAGGCCTGGGCAGCAAGTCCCTG c.1020
I I E | Y L V P E R G P E R G L G S K S L p.340
. . . . . . g.14732
CGCGCCTTCGTGGGGGAGGTGGGTGCCCGCTCTGCGGCCCCCGGGGGCGGCTCGGTGGCG c.1080
R A F V G E V G A R S A A P G G G S V A p.360
. | 10 . . . . g.15031
GCGGCCGCTGCGGCCATG | GGTGCGGCGCTGGGCTCCATGGTGGGCCTCATGACCTACGGG c.1140
A A A A A M | G A A L G S M V G L M T Y G p.380
. . . . . . g.15091
CGGCGCCAATTCCAGTCCCTGGACACGACGATGCGGCGCCTGATCCCGCCCTTCCGCGAG c.1200
R R Q F Q S L D T T M R R L I P P F R E p.400
. . . . . . g.15151
GCTTCGGCCAAGCTAACCACGCTGGTGGATGCCGACGCCGAGGCCTTCACCGCCTACCTG c.1260
A S A K L T T L V D A D A E A F T A Y L p.420
| 11 . . . . | 12 . . g.21937
| GAAGCAATGAGGCTCCCCAAGAACACACCTGAGGAAAAGGACAG | GCGCACGGCGGCCCTA c.1320
| E A M R L P K N T P E E K D R | R T A A L p.440
. . . . . . g.21997
CAGGAGGGTCTGAGGCGGGCAGTCTCTGTGCCGCTGACGCTGGCGGAGACGGTGGCCTCG c.1380
Q E G L R R A V S V P L T L A E T V A S p.460
. . . . . . g.22057
CTGTGGCCGGCCCTGCAGGAACTGGCCCGGTGTGGGAACCTGGCCTGCCGGTCAGACCTC c.1440
L W P A L Q E L A R C G N L A C R S D L p.480
| 13 . . . . . . g.23290
CAG | GTGGCGGCCAAAGCCCTGGAGATGGGCGTGTTTGGCGCATATTTCAACGTGCTCATC c.1500
Q | V A A K A L E M G V F G A Y F N V L I p.500
. . . | 14 . . g.23515
AACCTGAGGGACATCACAGACGAGGCATTTAAGGACCAG | ATCCACCATCGTGTTTCCAGC c.1560
N L R D I T D E A F K D Q | I H H R V S S p.520
. . . . . . g.23575
CTCCTGCAGGAAGCCAAGACCCAGGCTGCACTGGTGCTGGACTGCTTGGAGACCCGGCAG c.1620
L L Q E A K T Q A A L V L D C L E T R Q p.540
g.23581
GAGTGA | c.1627
E X p.541
| 15 . . . . . . g.24131
cg | aaaccccagggacagcaggaccttcgacgctggaaggatagcctcgcttcccaggtgc c.*60
. . . . . . g.24191
agctcccggcaggtctggacagttccacagagcacggtactggccctgtcctcagttccc c.*120
. . . . . . g.24251
gtccacccttcaaccagtggctcctgggagacttttcctccctgcctcagctccctgccc c.*180
. . . . . g.24306
agccagcctcctgtctccagagaagttctccattaaaaaataatttagcaaatca c.*235
(downstream sequence)
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