(used for variant description)
(last modified January 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003322.3 in the TULP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009077.1, covering TULP1 transcript NM_003322.3.
(upstream sequence)
. g.5012
ggcaaaggcacc c.-1
. . . . | 02. . g.5193
ATGCCTCTGCGGGATGAAACCCTCCGAGAGGTGTGGGCCTCTGACAG | TGGGCATGAAGAA c.60
M P L R D E T L R E V W A S D S | G H E E p.20
. . . | 03 . . g.5621
GAAAGCCTGAGCCCGGAGGCCCCGCGGCGCCCCAAACAG | CGACCCGCCCCGGCACAGAGG c.120
E S L S P E A P R R P K Q | R P A P A Q R p.40
. . . . . . g.5681
CTAAGGAAGAAGAGGACGGAGGCCCCCGAATCCCCCTGCCCCACGGGATCCAAGCCCCGG c.180
L R K K R T E A P E S P C P T G S K P R p.60
. | 04 . . . . . g.6114
AAGCCCGGAG | CTGGGCGGACGGGGAGGCCGCGGGAGGAGCCTTCCCCAGACCCAGCCCAG c.240
K P G A | G R T G R P R E E P S P D P A Q p.80
. . . . . . g.6174
GCCCGGGCGCCGCAGACGGTCTACGCCAGGTTCCTCAGGGACCCCGAGGCCAAGAAGCGC c.300
A R A P Q T V Y A R F L R D P E A K K R p.100
. . . . | 05 . g.6871
GACCCCCGGGAAACCTTTCTGGTAGCCCGTGCCCCAGACGCGGAGGACG | AGGAGGAGGAG c.360
D P R E T F L V A R A P D A E D E | E E E p.120
. . . . . . g.6931
GAAGAGGAGGACGAGGAGGACGAGGAAGAGGAGGCAGAGGAAAAGAAAGAGAAAATCCTT c.420
E E E D E E D E E E E A E E K K E K I L p.140
. . . . . . g.6991
CTGCCTCCCAAGAAGCCCCTGAGAGAGAAGAGCTCCGCAGACCTGAAGGAGAGGAGGGCC c.480
L P P K K P L R E K S S A D L K E R R A p.160
. | 06 . . . . g.7983
AAGGCCCAGGGCCCAAGGG | GAGACCTGGGAAGCCCTGACCCCCCACCGAAACCTCTGCGT c.540
K A Q G P R G | D L G S P D P P P K P L R p.180
. . . . . . g.8043
GTTAGGAATAAGGAAGCTCCAGCAGGGGAGGGGACCAAGATGAGAAAGACCAAGAAGAAA c.600
V R N K E A P A G E G T K M R K T K K K p.200
| 07 . . . . . . g.8179
G | GGTCTGGGGAGGCCGACAAGGACCCCTCAGGGAGCCCAGCCAGTGCGAGGAAGAGCCCA c.660
G | S G E A D K D P S G S P A S A R K S P p.220
. . . . . | 08 g.8560
GCAGCCATGTTTCTGGTTGGGGAAGGCAGTCCTGACAAGAAAGCCCTGAAGAAGAAAG | GC c.720
A A M F L V G E G S P D K K A L K K K G | p.240
. . . . . . g.8620
ACTCCCAAAGGCGCGAGGAAGGAGGAAGAAGAGGAGGAGGAGGCAGCTACGGTGATAAAG c.780
T P K G A R K E E E E E E E A A T V I K p.260
. . . . | 09 | 10 . g.11709
AAGAGCAATCAAAAGGGCAAAGCCAAAGGAAAAGGCAAAAAG | AAAGCG | AAGGAGGAGAGG c.840
K S N Q K G K A K G K G K K | K A | K E E R p.280
. . . . . . g.11769
GCCCCGTCTCCCCCCGTGGAGGTGGACGAACCCCGGGAGTTTGTGCTCCGGCCTGCCCCC c.900
A P S P P V E V D E P R E F V L R P A P p.300
. . . . . . g.11829
CAGGGCCGCACGGTGCGCTGCCGGCTGACCCGGGACAAAAAGGGCATGGATCGAGGCATG c.960
Q G R T V R C R L T R D K K G M D R G M p.320
. . . | 11 . . g.12038
TATCCCTCCTACTTCCTGCACCTGGACACGGAGAAGAAG | GTGTTCCTCTTGGCTGGCAGG c.1020
Y P S Y F L H L D T E K K | V F L L A G R p.340
. . . . . . g.12098
AAACGAAAACGGAGCAAGACAGCCAATTACCTCATCTCCATCGACCCTACCAATCTGTCC c.1080
K R K R S K T A N Y L I S I D P T N L S p.360
. . . | 12 . . . g.14050
CGAGGAGGGGAGAATTTCATCGGGAAGCTGAG | GTCCAACCTCCTGGGGAACCGCTTCACG c.1140
R G G E N F I G K L R | S N L L G N R F T p.380
. . . . . . g.14110
GTCTTTGACAACGGGCAGAACCCACAGCGTGGGTACAGCACTAATGTGGCAAGCCTTCGG c.1200
V F D N G Q N P Q R G Y S T N V A S L R p.400
. . | 13 . . . . g.14249
CAGGAGCTGGCAGCTGTGATCTAT | GAAACCAACGTGCTGGGCTTCCGTGGCCCCCGGCGC c.1260
Q E L A A V I Y | E T N V L G F R G P R R p.420
. . . . . . g.14309
ATGACCGTCATCATTCCTGGCATGAGTGCGGAGAACGAGAGGGTCCCCATCCGGCCCCGA c.1320
M T V I I P G M S A E N E R V P I R P R p.440
| 14 . . . . . . g.17775
AAT | GCTAGTGACGGCCTGCTGGTGCGCTGGCAGAACAAGACGCTGGAGAGCCTCATAGAA c.1380
N | A S D G L L V R W Q N K T L E S L I E p.460
. . . . . . g.17835
CTGCACAACAAGCCACCTGTCTGGAACGATGACAGTGGCTCCTACACCCTCAACTTCCAA c.1440
L H N K P P V W N D D S G S Y T L N F Q p.480
. . . . . | 15 . g.19415
GGCCGGGTCACCCAGGCCTCAGTCAAGAACTTCCAGATTGTCCACGCTGATGACC | CCGAC c.1500
G R V T Q A S V K N F Q I V H A D D P | D p.500
. . . . . . g.19475
TATATCGTGCTGCAGTTCGGCCGCGTGGCGGAGGACGCCTTCACCCTAGACTACCGGTAC c.1560
Y I V L Q F G R V A E D A F T L D Y R Y p.520
. . . . . . g.19535
CCGCTGTGCGCCCTGCAGGCCTTCGCCATCGCCCTCTCCAGTTTCGACGGGAAGCTGGCC c.1620
P L C A L Q A F A I A L S S F D G K L A p.540
g.19544
TGCGAGTGA c.1629
C E X p.542
. . . . . . g.19604
ccccagcagcccctcagcgcccccagagcccgtcagcgtgggggaaaggattcagtggag c.*60
. . . . . . g.19664
gctggcagggtccctccagcaaagctcccgcggaaaactgctcctgtgtcggggctgacc c.*120
. . . . . . g.19724
tctcactgcctctcggtgacctccgtcctctccccagcctggcacaggccgaggcaggag c.*180
. . . . . . g.19784
gagcccggacggcgggtaggacggagatgaagaacatctggagttggagccgcacatctg c.*240
. . . . . . g.19844
gtctcggagctcgcctgcgccgctgtgcccccctcctccccgcgccccagtcacttcctg c.*300
. . . . . . g.19904
tccgggagcagtagtcattgttgttttaacctcccctctccccgggaccgcgctagggct c.*360
. . . . . . g.19964
ccgaggagctggggcgggctaggaggagggggtaggtgatgggggacgagggccaggcac c.*420
. . . g.19997
ccacatccccaataaagccgcgtccttggccaa c.*453
(downstream sequence)
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