(used for variant description)
(last modified June 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015631.5 in the TCTN3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032953.1, covering TCTN3 transcript NM_015631.5.
(upstream sequence)
g.5004
ggtt c.-241
. . . . . . g.5064
gccaggcaacggaggcacggcccggcccgcgttaaggaggagggcgcagaccgaaggaca c.-181
. . . . . . g.5124
ctgaaagagctgtaacaaccccactttcgattggttgaagagctctcagccttctcatga c.-121
. . . . . . g.5184
gccaatgagaagaggcacgcggatggcgtcagacgctatgcgactcctcccacccacgct c.-61
. . . . . . g.5244
ctggcaatgcgattggagaccgcggaggcctacgtcggacccggaggccctgaatgcccc c.-1
. . . . . . g.5304
ATGCGCACCCCACAGCTCGCGCTCCTGCAAGTGTTCTTTCTGGTGTTCCCCGATGGCGTC c.60
M R T P Q L A L L Q V F F L V F P D G V p.20
. . . . . . g.5364
CGGCCTCAGCCCTCTTCCTCCCCATCAGGGGCAGTGCCCACGTCTTTGGAGCTGCAGCGA c.120
R P Q P S S S P S G A V P T S L E L Q R p.40
. . . . . . g.5424
GGGACGGATGGCGGAACCCTCCAGTCCCCTTCAGAGGCGACTGCAACTCGCCCGGCCGTG c.180
G T D G G T L Q S P S E A T A T R P A V p.60
. . . . . . g.5484
CCTGGACTCCCTACAGTGGTCCCTACTCTCGTGACTCCCTCGGCCCCTGGGAATAGGACT c.240
P G L P T V V P T L V T P S A P G N R T p.80
. | 02 . . . . . g.5711
GTGGACCTCTTCCCAG | TCTTACCGATCTGTGTCTGTGACTTGACTCCTGGAGCCTGCGAT c.300
V D L F P V | L P I C V C D L T P G A C D p.100
. . . . . . g.5771
ATAAATTGCTGCTGCGACAGGGACTGCTATCTTCTCCATCCGAGGACAGTTTTCTCCTTC c.360
I N C C C D R D C Y L L H P R T V F S F p.120
. . | 03 . . . . g.6145
TGCCTTCCAGGCAGCGTAAG | GTCTTCAAGCTGGGTTTGTGTAGACAACTCTGTTATCTTC c.420
C L P G S V R | S S S W V C V D N S V I F p.140
. . . . . . g.6205
AGGAGTAATTCCCCGTTTCCTTCAAGAGTTTTCATGGATTCTAATGGAATCAGGCAGTTT c.480
R S N S P F P S R V F M D S N G I R Q F p.160
. | 04 . . . . g.11465
TGTGTCCATGTGAACAACT | CAAACTTAAACTATTTCCAGAAGCTTCAAAAGGTCAATGCA c.540
C V H V N N S | N L N Y F Q K L Q K V N A p.180
. . . . . . g.11525
ACCAACTTCCAGGCCCTGGCTGCAGAGTTTGGAGGCGAATCATTCACTTCAACATTCCAA c.600
T N F Q A L A A E F G G E S F T S T F Q p.200
. . | 05. . . . g.11821
ACTCAATCACCACCATCTTTTTACAGG | GCTGGGGACCCCATTCTTACTTACTTCCCCAAG c.660
T Q S P P S F Y R | A G D P I L T Y F P K p.220
. . . . . . g.11881
TGGTCTGTAATAAGCTTGCTGAGACAACCTGCAGGAGTTGGAGCTGGGGGACTCTGTGCT c.720
W S V I S L L R Q P A G V G A G G L C A p.240
. | 06 . . . . . g.12028
GAAAGCAATCCTGCAG | GTTTCCTAGAGAGTAAAAGTACAACTTGCACTCGTTTTTTCAAG c.780
E S N P A G | F L E S K S T T C T R F F K p.260
. . . . . . g.12088
AACCTGGCTAGTAGCTGTACCTTGGATTCAGCCCTCAATGCTGCCTCTTACTATAACTTC c.840
N L A S S C T L D S A L N A A S Y Y N F p.280
. | 07 . . . | 08 . g.13519
ACAGTCTTAAAG | GTTCCAAGAAGCATGACTGATCCACAGAATATGGAG | TTCCAGGTTCCT c.900
T V L K | V P R S M T D P Q N M E | F Q V P p.300
. . . . . . g.13579
GTAATACTTACCTCACAGGCTAATGCTCCTCTGTTGGCTGGAAACACTTGTCAGAATGTA c.960
V I L T S Q A N A P L L A G N T C Q N V p.320
| 09 . . . . . g.14570
GTTTCTCAG | GTCACCTATGAGATAGAGACCAATGGGACTTTTGGAATCCAGAAAGTTTCT c.1020
V S Q | V T Y E I E T N G T F G I Q K V S p.340
. . . . . . g.14630
GTCAGTTTGGGACAAACCAACCTGACTGTTGAGCCAGGCGCTTCCTTACAGCAACACTTC c.1080
V S L G Q T N L T V E P G A S L Q Q H F p.360
. | 10 . . . . . g.15559
ATCCTTCGCTTCAGG | GCTTTTCAACAGAGCACAGCTGCTTCTCTCACCAGTCCTAGAAGT c.1140
I L R F R | A F Q Q S T A A S L T S P R S p.380
. . . . . . g.15619
GGGAATCCTGGCTATATAGTTGGGAAGCCACTCTTGGCTCTGACTGATGATATAAGTTAC c.1200
G N P G Y I V G K P L L A L T D D I S Y p.400
| 11 . . . . . . g.16005
TCA | ATGACCCTCTTACAGAGCCAGGGTAATGGAAGTTGCTCTGTTAAAAGACATGAAGTG c.1260
S | M T L L Q S Q G N G S C S V K R H E V p.420
. . . | 12 . . g.16361
CAGTTTGGAGTGAATGCAATATCTGGATGCAAGCTCAG | GTTGAAGAAGGCAGACTGCAGC c.1320
Q F G V N A I S G C K L R | L K K A D C S p.440
. . . . . . g.16421
CACTTGCAGCAGGAGATTTATCAGACTCTTCATGGAAGGCCCAGACCAGAGTATGTTGCC c.1380
H L Q Q E I Y Q T L H G R P R P E Y V A p.460
. . . . . . g.16481
ATCTTTGGTAATGCTGACCCAGCCCAGAAAGGAGGGTGGACCAGGATCCTCAACAGGCAC c.1440
I F G N A D P A Q K G G W T R I L N R H p.480
. | 13 . . . . . g.18582
TGCAGCATTTCA | GCTATAAACTGTACTTCCTGCTGTCTCATACCAGTTTCCCTGGAGATC c.1500
C S I S | A I N C T S C C L I P V S L E I p.500
. . . . . . g.18642
CAGGTATTGTGGGCATATGTAGGTCTCCTGTCCAACCCGCAAGCTCATGTATCAGGAGTT c.1560
Q V L W A Y V G L L S N P Q A H V S G V p.520
. . . | 14 . . . g.34873
CGATTCCTATACCAGTGCCAGTCTATACAG | GATTCTCAGCAAGTTACAGAAGTATCTTTG c.1620
R F L Y Q C Q S I Q | D S Q Q V T E V S L p.540
. . . . . . g.34933
ACAACTCTTGTGAACTTTGTGGACATTACCCAGAAGCCACAGCCTCCAAGGGGCCAACCC c.1680
T T L V N F V D I T Q K P Q P P R G Q P p.560
. . . . . . g.34993
AAAATGGACTGGAAATGGCCATTCGACTTCTTTCCCTTCAAAGTGGCATTCAGCAGAGGA c.1740
K M D W K W P F D F F P F K V A F S R G p.580
. . . . . . g.35053
GTATTCTCTCAAAAATGCTCAGTCTCTCCCATCCTTATCCTGTGCCTCTTACTACTTGGA c.1800
V F S Q K C S V S P I L I L C L L L L G p.600
. . g.35077
GTTCTCAACCTAGAGACTATGTGA c.1824
V L N L E T M X p.607
. . . . . . g.35137
agaaaagaaaataatcagatttcagttttccctatgagaaactctgaggcagccacttat c.*60
. . . . . . g.35197
cttggctaaatagaacctcacctgctcatgaccagagagcatttaggataatagaggacc c.*120
. . . . . . g.35257
taactgaaggaatccttgtatatgaaaggagttattttagaaaagcaataaaaatatttt c.*180
. . . . . . g.35317
attcatcatagctctctgctttgggctctgcaggccaccagatacacatgaggcccctac c.*240
. . . . . . g.35377
ttctcaagctgggaaggccaagagccttccttcagcctttctggttatgttacacctagc c.*300
. . . . . . g.35437
tgaatgtttacaaggtctggatccatcagccctcaggcacagttgggccaagcagaaaga c.*360
. . . . . . g.35497
gagaaacacttctgctgtcaccttgaatgaactcaggaatagcttccctctggactgtag c.*420
. . . . . . g.35557
aggagctaactgtttggaacagaaaactgctggctgttgattttgtctggttcctttgcc c.*480
. . . . . . g.35617
aacatctgggcacaccctttgcccagacacgagtggggaaagcagttctttctcctcagt c.*540
. . . . . . g.35677
ttccaaagtaaatggggaatcccagctttcttttctactagcaaatgaccctaccattta c.*600
. . . . . . g.35737
tttctgcctttttcttccgttcattgtgaggaaaaataaaactggttgagagctttgttg c.*660
. g.35748
tactaattcca c.*671
(downstream sequence)
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