(used for variant description)
(last modified March 25, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001142298.1 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_001142298.1.
(upstream sequence)
. . . . . . g.5060
gcgtcggcttccggccgccttccgcggccaccgccgggcccgctcccgccgccgacgccc c.-301
. . . . . . g.5120
aggtgcgccaggtgcgggccgggcgggggtcgcgctcacctttctggccgctgagtgccg c.-241
. . . . . . g.5180
cgtaccaggacagcgagaggaaggcgcacaggcagaagagcagcagcgtcaggaaggtgc c.-181
. . . | 02 . . . g.10222
cattgcggagcctcatctcctcgg | tgtctgcgagattaatctctcatggccgctgcacaa c.-121
. . . . . . g.10282
gaacctggcttttagctgaactaaggagaaagtcctacaacagtttggcgtgcaacatgg c.-61
. . | 03 . . . . g.21617
ggcttgagaaagg | atgaggacggggacttggttgccttttccagtgacgaggaattgaca c.-1
. . . . | 04 . g.22481
ATGGCCATGTCCTACGTGAAGGATGACATCTTCCGAATCTACATTAAAG | AGAAAAAAGAG c.60
M A M S Y V K D D I F R I Y I K E | K K E p.20
. . . . . . g.22541
TGCCGGCGGGACCACCGCCCACCGTGTGCTCAGGAGGCGCCCCGCAACATGGTGCACCCC c.120
C R R D H R P P C A Q E A P R N M V H P p.40
. . . . . . g.22601
AATGTGATCTGCGATGGCTGCAATGGGCCTGTGGTAGGAACCCGCTACAAGTGCAGCGTC c.180
N V I C D G C N G P V V G T R Y K C S V p.60
. . . . . . g.22661
TGCCCAGACTACGACTTGTGTAGCGTCTGCGAGGGAAAGGGCTTGCACCGGGGGCACACC c.240
C P D Y D L C S V C E G K G L H R G H T p.80
. . . | 05 . . g.22815
AAGCTCGCATTCCCCAGCCCCTTCGGGCACCTGTCTGAG | GGCTTCTCGCACAGCCGCTGG c.300
K L A F P S P F G H L S E | G F S H S R W p.100
. . . . . . g.22875
CTCCGGAAGGTGAAACACGGACACTTCGGGTGGCCAGGATGGGAAATGGGTCCACCAGGA c.360
L R K V K H G H F G W P G W E M G P P G p.120
. . . . . . g.22935
AACTGGAGCCCACGTCCTCCTCGTGCAGGGGAGGCCCGCCCTGGCCCCACGGCAGAATCA c.420
N W S P R P P R A G E A R P G P T A E S p.140
| 06 . . . . . . g.23817
G | CTTCTGGTCCATCGGAGGATCCGAGTGTGAATTTCCTGAAGAACGTTGGGGAGAGTGTG c.480
A | S G P S E D P S V N F L K N V G E S V p.160
. . | 07 . . . . g.31682
GCAGCTGCCCTTAGCCCTCTGG | GCATTGAAGTTGATATCGATGTGGAGCACGGAGGGAAA c.540
A A A L S P L G | I E V D I D V E H G G K p.180
. . . . . . g.31742
AGAAGCCGCCTGACCCCCGTCTCTCCAGAGAGTTCCAGCACAGAGGAGAAGAGCAGCTCA c.600
R S R L T P V S P E S S S T E E K S S S p.200
. . . . . . g.31802
CAGCCAAGCAGCTGCTGCTCTGACCCCAGCAAGCCGGGTGGGAATGTTGAGGGCGCCACG c.660
Q P S S C C S D P S K P G G N V E G A T p.220
. . . . . | 08. g.32202
CAGTCTCTGGCGGAGCAGATGAGGAAGATCGCCTTGGAGTCCGAGGGGCGCCCTGAG | GAA c.720
Q S L A E Q M R K I A L E S E G R P E | E p.240
. . . . . . g.32262
CAGATGGAGTCGGATAACTGTTCAGGAGGAGATGATGACTGGACCCATCTGTCTTCAAAA c.780
Q M E S D N C S G G D D D W T H L S S K p.260
. . . . . . g.32322
GAAGTGGACCCGTCTACAGGTGAACTCCAGTCCCTACAGATGCCAGAATCCGAAGGGCCA c.840
E V D P S T G E L Q S L Q M P E S E G P p.280
. . . . . . g.32382
AGCTCTCTGGACCCCTCCCAGGAGGGACCCACAGGGCTGAAGGAAGCTGCCTTGTACCCA c.900
S S L D P S Q E G P T G L K E A A L Y P p.300
. | 09 . . . . . g.35095
CATCTCCCGCCAG | AGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATG c.960
H L P P E | A D P R L I E S L S Q M L S M p.320
. . . . . . g.35155
GGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATC c.1020
G F S D E G G W L T R L L Q T K N Y D I p.340
. . . . . g.35206
GGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGA c.1071
G A A L D T I Q Y S K H P P P L X p.356
. . . . . . 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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