(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the SP110 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SP110 transcript NM_004509.3.
(upstream sequence)
. . . . . . g.15198
aagtgcccatgaggaggtggagagaggctgcaggcaccgacctgccttcagcttccggct c.-181
. . . . . . g.15258
tggcaaactccgaaaactttcacttttcttttctcggaagcccggccccttactgcgttt c.-121
. . . . . . g.15318
gtcaaagcacagacttcctgttttgcctgctagcatctccctgtaactctcccaatcttg c.-61
. . . . . . | 02 g.18323
aggagtgatccctgtcccagcccctggaaaggggcaggaacgacaaactcaaagtccag | g c.-1
. . . . . . g.18383
ATGTTCACCATGACAAGAGCCATGGAAGAGGCTCTTTTTCAGCACTTCATGCACCAGAAG c.60
M F T M T R A M E E A L F Q H F M H Q K p.20
. . . . . . g.18443
CTGGGGATCGCCTATGCCATACACAAGCCATTTCCCTTCTTTGAAGGCCTCCTAGACAAC c.120
L G I A Y A I H K P F P F F E G L L D N p.40
. . | 03. . . . g.20165
TCCATCATCACTAAGAGAATGTACATG | GAATCTCTGGAAGCCTGTAGAAATTTGATCCCT c.180
S I I T K R M Y M | E S L E A C R N L I P p.60
. . . . . . g.20225
GTATCCAGAGTGGTGCACAACATTCTCACCCAACTGGAGAGGACTTTTAACCTGTCTCTT c.240
V S R V V H N I L T Q L E R T F N L S L p.80
. . . . . . g.20285
CTGGTGACATTGTTCAGTCAAATTAACCTGCGTGAATATCCCAATCTGGTGACGATTTAC c.300
L V T L F S Q I N L R E Y P N L V T I Y p.100
. | 04 . . . . . g.22267
AGAAGCTTCAAACGTG | TTGGTGCTTCCTATGAATGGCAGAGCAGAGACACACCAATCCTA c.360
R S F K R V | G A S Y E W Q S R D T P I L p.120
. . . . . . g.22327
CTTGAAGCCCCAACTGGCCTAGCAGAAGGAAGCTCCCTCCATACCCCACTGGCGCTGCCC c.420
L E A P T G L A E G S S L H T P L A L P p.140
. . . . . . g.22387
CCACCACAACCCCCTCAACCAAGCTGTTCACCCTGTGCGCCAAGAGTCAGTGAGCCTGGA c.480
P P Q P P Q P S C S P C A P R V S E P G p.160
. . . . . . g.22447
ACATCCTCCCAGCAAAGCGATGAGATCCTGAGTGAGTCGCCCAGCCCATCTGACCCTGTC c.540
T S S Q Q S D E I L S E S P S P S D P V p.180
. . . . | 05 . . g.22837
CTGCCTCTCCCTGCACTCATCCAGGAAGGAAGAAGCACTTCAG | TGACCAATGACAAGTTA c.600
L P L P A L I Q E G R S T S V | T N D K L p.200
. . . . . . g.22897
ACATCCAAAATGAATGCGGAAGAAGACTCAGAAGAGATGCCCAGCCTCCTCACTAGCACT c.660
T S K M N A E E D S E E M P S L L T S T p.220
| 06. . . . . . g.23750
GTGCAAG | TGGCCAGTGACAACCTGATCCCCCAAATAAGAGATAAAGAAGACCCTCAAGAG c.720
V Q V | A S D N L I P Q I R D K E D P Q E p.240
. . . | 07 . . . g.25271
ATGCCCCACTCTCCCTTGGGCTCTATGCCAG | AGATAAGAGATAATTCTCCAGAACCAAAT c.780
M P H S P L G S M P E | I R D N S P E P N p.260
. . . . | 08 . g.27202
GACCCAGAAGAGCCCCAGGAGGTGTCCAGCACACCTTCAGACAAGAAAG | GAAAGAAAAGA c.840
D P E E P Q E V S S T P S D K K G | K K R p.280
. . . . . | 09 g.32523
AAAAGATGTATCTGGTCAACTCCAAAAAGGAGACATAAGAAAAAAAGCCTCCCAGGAG | GG c.900
K R C I W S T P K R R H K K K S L P G G | p.300
. . . . . . g.32583
ACAGCCTCATCTAGACACGGAATCCAAAAGAAGCTCAAAAGGGTGGATCAGGTTCCTCAA c.960
T A S S R H G I Q K K L K R V D Q V P Q p.320
. . . . . . g.32643
AAGAAAGATGACTCAACTTGTAACTCCACGGTAGAGACAAGGGCCCAAAAGGCGAGAACT c.1020
K K D D S T C N S T V E T R A Q K A R T p.340
. . | 10 . . . g.34316
GAATGTGCCCGAAAGTCGAGATCAGAGG | AGATCATTGATGGCACTTCAGAAATGAATGAA c.1080
E C A R K S R S E E | I I D G T S E M N E p.360
. . . . | 11 . g.49117
GGAAAGAGGTCCCAGAAGACGCCTAGTACACCACGAAGGGTCACACAAG | GGGCAGCCTCA c.1140
G K R S Q K T P S T P R R V T Q G | A A S p.380
. . . . . . g.49177
CCTGGGCATGGCATCCAAGAGAAGCTCCAAGTGGTGGATAAGGTGACTCAAAGGAAAGAC c.1200
P G H G I Q E K L Q V V D K V T Q R K D p.400
. . . . . . g.49237
GACTCAACCTGGAACTCAGAGGTCATGATGAGGGTCCAAAAGGCAAGAACTAAATGTGCC c.1260
D S T W N S E V M M R V Q K A R T K C A p.420
. | 12 . . . . g.51650
CGAAAGTCCAGATTGAAAG | AAAAGAAAAAGGAGAAAGATATCTGTTCAAGCTCAAAAAGG c.1320
R K S R L K E | K K K E K D I C S S S K R p.440
. . | 13 . . . g.57026
AGATTTCAGAAAAATATTCACCGAAGAG | GAAAACCCAAAAGTGACACTGTGGATTTTCAC c.1380
R F Q K N I H R R G | K P K S D T V D F H p.460
. . . . . . g.57086
TGTTCTAAGCTCCCCGTGACCTGTGGTGAGGCGAAAGGGATTTTATATAAGAAGAAAATG c.1440
C S K L P V T C G E A K G I L Y K K K M p.480
| 14. . . . . . g.57622
AAACACG | GATCCTCAGTGAAGTGCATTCGGAATGAGGATGGAACTTGGTTAACACCAAAT c.1500
K H G | S S V K C I R N E D G T W L T P N p.500
. . . . . . g.57682
GAATTTGAAGTCGAAGGAAAAGGAAGGAACGCAAAGAACTGGAAACGGAATATACGTTGT c.1560
E F E V E G K G R N A K N W K R N I R C p.520
. . . | 15 . . . g.62320
GAAGGAATGACCCTAGGAGAGCTGCTGAAG | CGGAAAAACTCGGATGAATGCGAGGTGTGC c.1620
E G M T L G E L L K | R K N S D E C E V C p.540
. . . . . . g.62380
TGTCAAGGGGGACAACTTCTCTGCTGCGGTACTTGTCCACGAGTCTTCCATGAGGACTGT c.1680
C Q G G Q L L C C G T C P R V F H E D C p.560
. . | 16 . . . . g.63109
CACATCCCCCCTGTGGAAGCCAAGAG | GATGCTGTGGAGTTGCACCTTCTGCAGGATGAAG c.1740
H I P P V E A K R | M L W S C T F C R M K p.580
. . . . . . g.63169
AGGTCTTCAGGAAGCCAACAGTGCCATCATGTATCTAAGACCCTGGAGAGGCAGATGCAG c.1800
R S S G S Q Q C H H V S K T L E R Q M Q p.600
. | 17 . . . . . g.64533
CCTCAGGACCAGCTG | ATTCGAGATTACGGTGAGCCCTTTCAGGAAGCAATGTGGTTGGAC c.1860
P Q D Q L | I R D Y G E P F Q E A M W L D p.620
. . . . . . g.64593
CTGGTTAAGGAAAGGCTGATTACGGAAATGTACACGGTGGCATGGTTTGTGCGAGACATG c.1920
L V K E R L I T E M Y T V A W F V R D M p.640
. . . | 18 . . . g.66036
CGCCTGATGTTTCGCAACCATAAAACATTTTACAAG | GCTTCTGACTTTGGCCAGGTAGGA c.1980
R L M F R N H K T F Y K | A S D F G Q V G p.660
. . . . . . g.66096
CTTGACTTAGAGGCAGAATTTGAAAAAGATCTCAAAGACGTGCTCGGTTTTCATGAAGCC c.2040
L D L E A E F E K D L K D V L G F H E A p.680
. . . g.66126
AATGACGGCGGTTTCTGGACTCTTCCTTGA c.2070
N D G G F W T L P X p.689
. . . . . . g.66186
ccctgttctgtaaagactgaagcatccccacctcaggattcagctgatgggaccctggct c.*60
. . . . . . g.66246
tggactgttgattgccagtgagtctgggatgtaattggctgccctcaggacccaaaccca c.*120
. . . . . . g.66306
gacacttcataggattatcacaccctccatctttattctttctttttacctttaaaagtc c.*180
. . g.66332
tatatctacactaaaaaaaaaaaaaa c.*206
(downstream sequence)
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