(used for variant description)
(last modified February 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_080424.2 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_080424.2.
(upstream sequence)
. . . . . . g.10677
aagtgcccatgaggaggtggagagaggctgcaggcaccgacctgccttcagcttccggct c.-181
. . . . . . g.10737
tggcaaactccgaaaactttcacttttcttttctcggaagcccggccccttactgcgttt c.-121
. . . . . . g.10797
gtcaaagcacagacttcctgttttgcctgctagcatctccctgtaactctcccaatcttg c.-61
. . . . . . | 02 g.13802
aggagtgatccctgtcccagcccctggaaaggggcaggaacgacaaactcaaagtccag | g c.-1
. . . . . . g.13862
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.13922
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.15644
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.15704
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.15764
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.17746
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.17806
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.17866
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.17926
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.18316
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.18376
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.19229
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.20750
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.22681
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.28002
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.28062
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.28122
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.29795
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.44596
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.44656
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.44716
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.47129
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.52505
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.52565
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.53101
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.53161
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.57799
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.57859
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.58588
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.58648
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.59006
CCTCAGGACCAGCTG | AAATGTGAGTTCCTCCTCTTGAAGGCCTACTGTCATCCACAAAGC c.1860
P Q D Q L | K C E F L L L K A Y C H P Q S p.620
. . | 18. . . . g.60000
TCCTTTTTTACGGGCATCCCATTTAAT | ATTCGAGATTACGGTGAGCCCTTTCAGGAAGCA c.1920
S F F T G I P F N | I R D Y G E P F Q E A p.640
. . . . . . g.60060
ATGTGGTTGGACCTGGTTAAGGAAAGGCTGATTACGGAAATGTACACGGTGGCATGGTTT c.1980
M W L D L V K E R L I T E M Y T V A W F p.660
. . . . | 19 . g.61503
GTGCGAGACATGCGCCTGATGTTTCGCAACCATAAAACATTTTACAAG | GCTTCTGACTTT c.2040
V R D M R L M F R N H K T F Y K | A S D F p.680
. . . . . . g.61563
GGCCAGGTAGGACTTGACTTAGAGGCAGAATTTGAAAAAGATCTCAAAGACGTGCTCGGT c.2100
G Q V G L D L E A E F E K D L K D V L G p.700
. . . . g.61605
TTTCATGAAGCCAATGACGGCGGTTTCTGGACTCTTCCTTGA c.2142
F H E A N D G G F W T L P X p.713
. . . . . . g.61665
ccctgttctgtaaagactgaagcatccccacctcaggattcagctgatgggaccctggct c.*60
. . . . . . g.61725
tggactgttgattgccagtgagtctgggatgtaattggctgccctcaggacccaaaccca c.*120
. . . . . . g.61785
gacacttcataggattatcacaccctccatctttattctttctttttacctttaaaagtc c.*180
. . g.61811
tatatctacactaaaaaaaaaaaaaa c.*206
(downstream sequence)
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