(used for variant description)
(last modified March 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003900.4 in the SQSTM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011342.1, covering SQSTM1 transcript NM_003900.4.
(upstream sequence)
. . . g.19489
cctctcgaggcggggcggggcctccgcgttcgcta c.-61
. . . . . . g.19549
caaaagccgcgcggcggctgcgaccgggacggcccgttttccgccagctcgccgctcgct c.-1
. . . . . . g.19609
ATGGCGTCGCTCACCGTGAAGGCCTACCTTCTGGGCAAGGAGGACGCGGCGCGCGAGATT c.60
M A S L T V K A Y L L G K E D A A R E I p.20
. . . . . . g.19669
CGCCGCTTCAGCTTCTGCTGCAGCCCCGAGCCTGAGGCGGAAGCCGAGGCTGCGGCGGGT c.120
R R F S F C C S P E P E A E A E A A A G p.40
. . . . . . g.19729
CCGGGACCCTGCGAGCGGCTGCTGAGCCGGGTGGCCGCCCTGTTCCCCGCGCTGCGGCCT c.180
P G P C E R L L S R V A A L F P A L R P p.60
. . | 02 . . . . g.21605
GGCGGCTTCCAGGCGCACTACCGCG | ATGAGGACGGGGACTTGGTTGCCTTTTCCAGTGAC c.240
G G F Q A H Y R D | E D G D L V A F S S D p.80
. . . . . . g.21665
GAGGAATTGACAATGGCCATGTCCTACGTGAAGGATGACATCTTCCGAATCTACATTAAA c.300
E E L T M A M S Y V K D D I F R I Y I K p.100
| 03 . . . . . . g.22529
G | AGAAAAAAGAGTGCCGGCGGGACCACCGCCCACCGTGTGCTCAGGAGGCGCCCCGCAAC c.360
E | K K E C R R D H R P P C A Q E A P R N p.120
. . . . . . g.22589
ATGGTGCACCCCAATGTGATCTGCGATGGCTGCAATGGGCCTGTGGTAGGAACCCGCTAC c.420
M V H P N V I C D G C N G P V V G T R Y p.140
. . . . . . g.22649
AAGTGCAGCGTCTGCCCAGACTACGACTTGTGTAGCGTCTGCGAGGGAAAGGGCTTGCAC c.480
K C S V C P D Y D L C S V C E G K G L H p.160
. . . . . | 04 . g.22803
CGGGGGCACACCAAGCTCGCATTCCCCAGCCCCTTCGGGCACCTGTCTGAG | GGCTTCTCG c.540
R G H T K L A F P S P F G H L S E | G F S p.180
. . . . . . g.22863
CACAGCCGCTGGCTCCGGAAGGTGAAACACGGACACTTCGGGTGGCCAGGATGGGAAATG c.600
H S R W L R K V K H G H F G W P G W E M p.200
. . . . . . g.22923
GGTCCACCAGGAAACTGGAGCCCACGTCCTCCTCGTGCAGGGGAGGCCCGCCCTGGCCCC c.660
G P P G N W S P R P P R A G E A R P G P p.220
. | 05 . . . . . g.23805
ACGGCAGAATCAG | CTTCTGGTCCATCGGAGGATCCGAGTGTGAATTTCCTGAAGAACGTT c.720
T A E S A | S G P S E D P S V N F L K N V p.240
. . . | 06 . . . g.31670
GGGGAGAGTGTGGCAGCTGCCCTTAGCCCTCTGG | GCATTGAAGTTGATATCGATGTGGAG c.780
G E S V A A A L S P L G | I E V D I D V E p.260
. . . . . . g.31730
CACGGAGGGAAAAGAAGCCGCCTGACCCCCGTCTCTCCAGAGAGTTCCAGCACAGAGGAG c.840
H G G K R S R L T P V S P E S S S T E E p.280
. . . . . . g.31790
AAGAGCAGCTCACAGCCAAGCAGCTGCTGCTCTGACCCCAGCAAGCCGGGTGGGAATGTT c.900
K S S S Q P S S C C S D P S K P G G N V p.300
. . . . . . g.31850
GAGGGCGCCACGCAGTCTCTGGCGGAGCAGATGAGGAAGATCGCCTTGGAGTCCGAGGGG c.960
E G A T Q S L A E Q M R K I A L E S E G p.320
| 07 . . . . . g.32250
CGCCCTGAG | GAACAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCAT c.1020
R P E | E Q M E S D N C S G G D D D W T H p.340
. . . . . . g.32310
CTGTCTTCAAAAGAAGTGGACCCGTCTACAGGTGAACTCCAGTCCCTACAGATGCCAGAA c.1080
L S S K E V D P S T G E L Q S L Q M P E p.360
. . . . . . g.32370
TCCGAAGGGCCAAGCTCTCTGGACCCCTCCCAGGAGGGACCCACAGGGCTGAAGGAAGCT c.1140
S E G P S S L D P S Q E G P T G L K E A p.380
. . | 08 . . . . g.35083
GCCTTGTACCCACATCTCCCGCCAG | AGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAG c.1200
A L Y P H L P P E | A D P R L I E S L S Q p.400
. . . . . . g.35143
ATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAG c.1260
M L S M G F S D E G G W L T R L L Q T K p.420
. . . . . . g.35203
AACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTG c.1320
N Y D I G A A L D T I Q Y S K H P P P L p.440
g.35206
TGA c.1323
X p.440
. . . . . . g.35266
ccacttttgcccacctcttctgcgtgcccctcttctgtctcatagttgtgttaagcttgc c.*60
. . . . . . g.35326
gtagaattgcaggtctctgtacgggccagtttctctgccttcttccaggatcaggggtta c.*120
. . . . . . g.35386
gggtgcaagaagccatttagggcagcaaaacaagtgacatgaagggagggtccctgtgtg c.*180
. . . . . . g.35446
tgtgtgtgctgatgtttcctgggtgccctggctccttgcagcagggctgggcctgcgaga c.*240
. . . . . . g.35506
cccaaggctcactgcagcgcgctcctgacccctccctgcaggggctacgttagcagccca c.*300
. . . . . . g.35566
gcacatagcttgcctaatggctttcactttctcttttgttttaaatgactcataggtccc c.*360
. . . . . . g.35626
tgacatttagttgattattttctgctacagacctggtacactctgattttagataaagta c.*420
. . . . . . g.35686
agcctaggtgttgtcagcaggcaggctggggaggccagtgttgtgggcttcctgctggga c.*480
. . . . . . g.35746
ctgagaaggctcacgaagggcatccgcaatgttggtttcactgagagctgcctcctggtc c.*540
. . . . . . g.35806
tcttcaccactgtagttctctcatttccaaaccatcagctgcttttaaaataagatctct c.*600
. . . . . . g.35866
ttgtagccatcctgttaaatttgtaaacaatctaattaaatggcatcagcactttaacca c.*660
. . . . . . g.35926
atgacgtttgcatagagagaaatgattgacagtaagtttattgttaatggttcttacaga c.*720
. . . . . . g.35986
gtatctttaaaagtgccttaggggaaccctgtccctcctaacaagtgtatctcgattaat c.*780
. . . . . . g.36046
aacctgccagtcccagatcacacatcatcatcgaagtcttccccagttataaagaggtca c.*840
. . . . . . g.36106
catagtcgtgtgggtcgaggattctgtgcctccaggaccaggggcccaccctctgcccag c.*900
. . . . . . g.36166
ggagtccttgcgtcccatgaggtcttcccgcaaggcctctcagacccagatgtgacgggg c.*960
. . . . . . g.36226
tgtgtggcccgaggaagctggacagcggcagtgggcctgctgaggccttctcttgaggcc c.*1020
. . . . . . g.36286
tgtgctctgggggtcccttgcttagcctgtgctggaccagctggcctggggtccctctga c.*1080
. . . . . . g.36346
agagaccttggctgctcactgtccacatgtgaactttttctaggtggcaggacaaattgc c.*1140
. . . . . . g.36406
gcccatttagaggatgtggctgtaacctgctggatgggactccatagctccttcccagga c.*1200
. . . . . . g.36466
cccctcagctccccggcactgcagtctgcagagttctcctggaggcaggggctgctgcct c.*1260
. . . . . . g.36526
tgtttcaccttccatgtcaggccagcctgtccctgaaagagaagatggccatgccctcca c.*1320
. . . . . . g.36586
tgtgtaagaacaatgccagggcccaggaggaccgcctgccctgcctgggccttggctggg c.*1380
. . . . . . g.36646
cctctggttctgacactttctgctggaagctgtcaggctgggacaggctttgattttgag c.*1440
. . . . g.36691
ggttagcaagacaaagcaaataaatgccttccacctcaccgcaaa c.*1485
(downstream sequence)
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