(used for variant description)
(last modified November 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_138376.2 in the TTC5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering TTC5 transcript NM_138376.2.
(upstream sequence)
. . . . . g.5057
ggtgagagagggcgtgcgtctctgtggttataaagttgggggtggagtggccgggag c.-1
. . . . . | 02 . g.9038
ATGATGGCTGATGAAGAGGAAGAAGTCAAGCCGATCTTGCAGAAATTGCAG | GAACTCGTG c.60
M M A D E E E E V K P I L Q K L Q | E L V p.20
. . . . . . g.9098
GATCAGCTCTACTCATTTCGAGACTGCTATTTCGAGACACATAGTGTTGAGGATGCTGGG c.120
D Q L Y S F R D C Y F E T H S V E D A G p.40
. . . . . . g.9158
AGGAAGCAACAGGATGTGCAGAAGGAGATGGAGAAAACCCTACAGCAGATGGAAGAAGTA c.180
R K Q Q D V Q K E M E K T L Q Q M E E V p.60
| 03 . . . . . . g.10232
GTGG | GTTCTGTCCAGGGCAAGGCACAAGTTCTAATGCTAACTGGGAAAGCACTAAATGTG c.240
V G | S V Q G K A Q V L M L T G K A L N V p.80
. . . . . . g.10292
ACTCCTGACTATAGCCCTAAGGCTGAGGAGCTTCTGTCAAAGGCTGTGAAGCTGGAGCCC c.300
T P D Y S P K A E E L L S K A V K L E P p.100
. . . . . . g.10352
GAGCTGGTGGAAGCCTGGAACCAGCTGGGTGAGGTGTACTGGAAAAAAGGGGATGTTGCA c.360
E L V E A W N Q L G E V Y W K K G D V A p.120
. . . | 04 . . . g.11570
GCTGCCCACACCTGCTTCTCAGGAGCCCTCACCCAT | TGCAGGAACAAAGTCTCCTTGCAA c.420
A A H T C F S G A L T H | C R N K V S L Q p.140
. . . . . . g.11630
AACCTGTCAATGGTGCTTCGTCAGCTGCGGACTGACACTGAAGATGAACATTCTCACCAT c.480
N L S M V L R Q L R T D T E D E H S H H p.160
. . . . . . g.11690
GTCATGGACAGTGTCCGACAGGCTAAGTTGGCTGTTCAGATGGATGTCCATGATGGCCGC c.540
V M D S V R Q A K L A V Q M D V H D G R p.180
| 05. . . . . . g.12159
TCCTGGT | ATATTCTTGGGAATTCATATCTTTCCCTTTACTTCTCTACTGGCCAGAACCCT c.600
S W Y | I L G N S Y L S L Y F S T G Q N P p.200
. . . | 06 . . g.14569
AAGATCTCCCAGCAAGCCCTCAGTGCCTATGCCCAAGCA | GAGAAAGTTGACAGAAAAGCT c.660
K I S Q Q A L S A Y A Q A | E K V D R K A p.220
. . . | 07 . . . g.15164
TCTAGCAATCCTGACCTTCATCTGAACAGGGCGACG | TTGCATAAATATGAAGAGAGTTAT c.720
S S N P D L H L N R A T | L H K Y E E S Y p.240
. . . . . . g.15224
GGGGAGGCCCTGGAGGGCTTCTCTCGGGCTGCAGCCCTGGACCCTGCCTGGCCAGAGCCC c.780
G E A L E G F S R A A A L D P A W P E P p.260
. . . . . . g.15284
CGGCAACGAGAGCAACAACTTCTGGAATTCCTGGATAGATTAACCAGCCTCCTTGAGAGT c.840
R Q R E Q Q L L E F L D R L T S L L E S p.280
| 08 . . . . . . g.15525
AAG | GGAAAGGTGAAGACCAAAAAGCTGCAGAGCATGCTGGGAAGCTTGCGCCCAGCCCAT c.900
K | G K V K T K K L Q S M L G S L R P A H p.300
. . . . . . g.15585
CTAGGCCCTTGCAGTGATGGGCACTATCAGTCAGCCTCTGGGCAGAAAGTGACCCTGGAG c.960
L G P C S D G H Y Q S A S G Q K V T L E p.320
. . . . . . g.15645
CTCAAGCCACTGAGTACGCTTCAGCCTGGGGTGAACAGCGGTGCCGTCATCCTGGGAAAG c.1020
L K P L S T L Q P G V N S G A V I L G K p.340
. . . | 09 . . g.18889
GTGGTATTTAGCCTCACCACAGAGGAGAAAGTCCCCTT | TACATTTGGCCTGGTAGATTCA c.1080
V V F S L T T E E K V P F | T F G L V D S p.360
. . . . . . g.18949
GATGGACCTTGCTATGCAGTGATGGTGTACAATATAGTGCAGAGCTGGGGAGTGCTCATT c.1140
D G P C Y A V M V Y N I V Q S W G V L I p.380
. . . . . . g.19009
GGAGACTCTGTAGCCATTCCTGAGCCCAACCTGCGGCTTCACCGAATTCAGCACAAAGGA c.1200
G D S V A I P E P N L R L H R I Q H K G p.400
| 10 . . . . . . g.21305
AAG | GACTATTCCTTTTCCAGTGTTCGAGTGGAGACGCCCCTCCTGCTAGTGGTGAATGGG c.1260
K | D Y S F S S V R V E T P L L L V V N G p.420
. . . . . . g.21365
AAGCCTCAGGGATCCAGCAGCCAGGCTGTTGCCACAGTGGCATCGCGACCACAGTGTGAA c.1320
K P Q G S S S Q A V A T V A S R P Q C E p.440
g.21368
TGA c.1323
X p.440
. . . . . . g.21428
cctttgacttgcatgctcaacagggagtggaggagaggagacaaggctctggacagccgg c.*60
. . . . . . g.21488
tccagccacatccagtgattcagcagggatgggaggaatgttttaaatgaagactttctc c.*120
. . . . . . g.21548
tttccctgcctgtattacacttcgtatctcttctctctcctctgtcctcatcatgttcca c.*180
. . . . . . g.21608
gctctctacagggccacatactcttctggcatatctctcctgtctcttccactgctctct c.*240
. . . . . . g.21668
atgttttaagcaaagagcatggaattggtagaagtcttgggatcttgccatgggacagag c.*300
. . . . . . g.21728
tccccaaggttcctgttgttgcctccttcctaagcctcatatgtatatatcagttcagta c.*360
. . . . . . g.21788
tttattgctaaaggagggggcttaattttgtaatggcttttatttttagcaatttttatt c.*420
. . . . . . g.21848
tttatttttgaactttaggtccttcctcttctttggggctggaacagaattaaatttgtt c.*480
. g.21864
tggaaaaaaaaaaaaa c.*496
(downstream sequence)
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