(used for variant description)
(last modified January 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_024549.5 in the TCTN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030381.1, covering TCTN1 transcript NM_024549.5.
(upstream sequence)
. . . g.5036
atccgccccctgcctcatccaggcttcgccccagtc c.-121
. . . . . . g.5096
agtctccggcagcttctcgcggcttcgcaagccccttcccgtgatgccccgcgcctggct c.-61
. . . . . . g.5156
gtcgcggttgccgggcaacgcgctgtccatgtcgcgggcctcgctgggactccctgggag c.-1
. . . . . . g.5216
ATGAGGCCGCGAGGTCTCCCGCCGCTCCTGGTGGTGCTCCTGGGCTGCTGGGCCTCCGTG c.60
M R P R G L P P L L V V L L G C W A S V p.20
. . . . . . g.5276
AGCGCCCAGACCGATGCCACCCCGGCGGTGACGACAGAGGGCCTCAACTCCACCGAGGCA c.120
S A Q T D A T P A V T T E G L N S T E A p.40
. . . . . . g.5336
GCCCTGGCCACCTTCGGAACTTTCCCGTCGACCAGGCCCCCCGGGACTCCCAGGGCTCCA c.180
A L A T F G T F P S T R P P G T P R A P p.60
. . . . | 02 . . g.10829
GGGCCCTCCTCCGGCCCCAGGCCTACCCCAGTCACGGACG | TTGCTGTTCTCTGTGTCTGT c.240
G P S S G P R P T P V T D V | A V L C V C p.80
. . . . . . g.10889
GACTTATCCCCAGCACAGTGTGACATCAACTGCTGCTGTGATCCCGACTGCAGCTCCGTG c.300
D L S P A Q C D I N C C C D P D C S S V p.100
. . . . | 03 . . g.17354
GATTTCAGTGTCTTTTCTGCCTGCTCAGTTCCAGTTGTCAC | GGGCGACAGCCAGTTTTGT c.360
D F S V F S A C S V P V V T | G D S Q F C p.120
. . . . . . g.17414
AGTCAAAAAGCAGTCATCTATTCATTGAATTTTACAGCAAACCCACCTCAAAGAGTATTT c.420
S Q K A V I Y S L N F T A N P P Q R V F p.140
. . . . . | 04 . g.19748
GAACTTGTTGACCAGATTAATCCATCTATTTTCTGCATTCATATTACAAACT | ATAAACCT c.480
E L V D Q I N P S I F C I H I T N Y | K P p.160
. . . . . . g.19808
GCATTATCCTTTATTAATCCAGAAGTACCTGATGAAAACAATTTTGATACATTGATGAAA c.540
A L S F I N P E V P D E N N F D T L M K p.180
. . . . . . g.19868
ACATCTGATGGTTTTACATTGAATGCTGAATCATATGTTTCCTTCACAACCAAACTGGAT c.600
T S D G F T L N A E S Y V S F T T K L D p.200
. . | 05 . . . . g.23481
ATTCCTACTGCTGCTAAATATGAG | TATGGGGTTCCTCTGCAGACTTCAGATTCGTTTCTG c.660
I P T A A K Y E | Y G V P L Q T S D S F L p.220
. . . . . | 06 . g.25377
AGATTTCCTTCGTCCCTGACATCATCTCTGTGCACTGATAATAACCCTGCAG | GCCAGGCG c.720
R F P S S L T S S L C T D N N P A G | Q A p.240
. . . . . . g.25437
TACTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGAGAGGATCACTTGAG c.780
Y W F T P V I P A L W E A E A R G S L E p.260
| 07 . . | 08 . . . . g.31395
| GTACCTGATTCAAGAAAAAAG | GTCCCTATCACTGTTCAGTCCATCGTCATTCAGTCTCTA c.840
| V P D S R K K | V P I T V Q S I V I Q S L p.280
. . . . . . g.31455
AATAAAACGCTCACCCGACGGGAGGACACTGATGTGCTGCAGCCGACTCTCGTCAACGCT c.900
N K T L T R R E D T D V L Q P T L V N A p.300
. . . | 09 . . . g.32021
GGACACTTTAGCCTTTGCGTGAATGTTGTTCTTGAG | GTAAAGTACAGCCTCACATACACA c.960
G H F S L C V N V V L E | V K Y S L T Y T p.320
. . . . . . g.32081
GATGCAGGTGAAGTCACCAAAGCTGATCTCTCATTCGTTCTGGGGACAGTTAGCAGCGTA c.1020
D A G E V T K A D L S F V L G T V S S V p.340
. . . . | 10 . . g.32533
GTGGTCCCACTGCAGCAAAAGTTTGAAATTCATTTTCTTCAG | GAAAATACCCAGCCAGTC c.1080
V V P L Q Q K F E I H F L Q | E N T Q P V p.360
. . . . . . g.32593
CCTCTCAGTGGAAACCCTGGTTATGTCGTGGGGCTCCCATTAGCTGCTGGATTCCAGCCT c.1140
P L S G N P G Y V V G L P L A A G F Q P p.380
| 11 . . . . . g.33274
CATAAGGG | GTCTGGGATTATTCAGACCACAAATAGATATGGACAGCTTACTATTCTTCAT c.1200
H K G | S G I I Q T T N R Y G Q L T I L H p.400
. . . . . . g.33334
AGCACAACTGAGCAAGACTGCTTAGCACTGGAGGGGGTCCGGACCCCAGTATTATTTGGT c.1260
S T T E Q D C L A L E G V R T P V L F G p.420
. . | 12 . . . g.35971
TACACTATGCAATCTGGCTGTAAACTAAG | ACTGACTGGAGCTCTCCCGTGTCAGCTCGTA c.1320
Y T M Q S G C K L R | L T G A L P C Q L V p.440
. . . . . . g.36031
GCACAGAAGGTGAAGAGCCTGCTGTGGGGCCAGGGCTTCCCAGATTACGTGGCCCCTTTT c.1380
A Q K V K S L L W G Q G F P D Y V A P F p.460
. . . . . . g.36091
GGAAATTCCCAGGCCCAGGACATGCTGGACTGGGTGCCCATCCACTTCATCACCCAGTCA c.1440
G N S Q A Q D M L D W V P I H F I T Q S p.480
. | 13 . . . . . g.38232
TTCAACAGGAAG | GATTCCTGCCAGCTCCCAGGGGCTTTGGTTATAGAAGTGAAGTGGACT c.1500
F N R K | D S C Q L P G A L V I E V K W T p.500
. . . . . . g.38292
AAATACGGATCCCTGCTGAATCCACAGGCCAAAATAGTCAATGTAACTGCAAATCTAATT c.1560
K Y G S L L N P Q A K I V N V T A N L I p.520
. | 14 . . . . g.38764
TCATCCTCCTTTCCTGAG | GCCAACTCAGGAAATGAAAGGACGATTCTTATTTCCACTGCG c.1620
S S S F P E | A N S G N E R T I L I S T A p.540
. . . . . . g.38824
GTTACTTTTGTGGATGTGTCTGCACCTGCAGAGGCAGGCTTCAGAGCTCCACCAGCCATC c.1680
V T F V D V S A P A E A G F R A P P A I p.560
. . . . g.38866
AATGCCAGGCTGCCCTTTAACTTCTTCTTCCCGTTTGTTTGA | c.1723
N A R L P F N F F F P F V X p.573
| 15 . . . . . . g.40075
c | aatgctcagatgcatcagttccttaatatacacgtgaaatttgaaaactgtacattcgg c.*60
. . g.40104
tgagattaaattttatatacaactagcaa c.*89
(downstream sequence)
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