(used for variant description)
(last modified May 10, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003104.5 in the SORD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering SORD transcript NM_003104.5.
(upstream sequence)
. . . . . . g.5060
ctccacgctagcgccgcccaggctggcacaaaggaggaagcctagtcccgcccctgcgtg c.-121
. . . . . . g.5120
cggcgcttctcccaggccccaccttccatccagtgccctggaccctcggctgggtagcgc c.-61
. . . . . . g.5180
caccagagcgaccaaacgtcccgcgccttccaggccgcactccagagccaaaagagctcc c.-1
. . . . . . g.5240
ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTG c.60
M A A A A K P N N L S L V V H G P G D L p.20
| 02 . . . . | 03 . . g.25173
CGCCTG | GAGAACTATCCTATCCCTGAACCAGGCCCAAATG | AGGTCTTGCTGAGGATGCAT c.120
R L | E N Y P I P E P G P N E | V L L R M H p.40
. . . . . . g.25233
TCTGTTGGAATCTGTGGCTCAGATGTCCACTACTGGGAGTATGGTCGAATTGGGAATTTT c.180
S V G I C G S D V H Y W E Y G R I G N F p.60
. . . . . . g.25293
ATTGTGAAAAAGCCCATGGTGCTGGGACATGAAGCTTCGGGAACAGTCGAAAAAGTGGGA c.240
I V K K P M V L G H E A S G T V E K V G p.80
. . | 04 . . . . g.42998
TCATCGGTAAAGCACCTAAAACCAG | GTGATCGTGTTGCCATCGAGCCTGGTGCTCCCCGA c.300
S S V K H L K P G | D R V A I E P G A P R p.100
. . . . . . g.43058
GAAAATGATGAATTCTGCAAGATGGGCCGATACAATCTGTCACCTTCCATCTTCTTCTGT c.360
E N D E F C K M G R Y N L S P S I F F C p.120
. . . . . . g.43118
GCCACGCCCCCCGATGACGGGAACCTCTGCCGGTTCTATAAGCACAATGCAGCCTTTTGT c.420
A T P P D D G N L C R F Y K H N A A F C p.140
| 05 . . . . . . g.47222
TACAA | GCTTCCTGACAATGTCACCTTTGAGGAAGGCGCCCTGATCGAGCCACTTTCTGTG c.480
Y K | L P D N V T F E E G A L I E P L S V p.160
. . . . . . g.47282
GGGATCCATGCCTGCAGGAGAGGCGGAGTTACCCTGGGACACAAGGTCCTTGTGTGTGGA c.540
G I H A C R R G G V T L G H K V L V C G p.180
| 06 . . . . . . g.50133
GCTG | GGCCAATCGGGATGGTCACTTTGCTCGTGGCCAAAGCAATGGGAGCAGCTCAAGTA c.600
A G | P I G M V T L L V A K A M G A A Q V p.200
. | 07 . . . . . g.50823
GTGGTGACTG | ATCTGTCTGCTACCCGATTGTCCAAAGCCAAGGAGATTGGGGCTGATTTA c.660
V V T D | L S A T R L S K A K E I G A D L p.220
. . . . . . g.50883
GTCCTCCAGATCTCCAAGGAGAGCCCTCAGGAAATCGCCAGGAAAGTAGAAGGTCAGCTG c.720
V L Q I S K E S P Q E I A R K V E G Q L p.240
. . . . . . g.50943
GGGTGCAAGCCGGAAGTCACCATCGAGTGCACGGGGGCAGAGGCCTCCATCCAGGCGGGC c.780
G C K P E V T I E C T G A E A S I Q A G p.260
| 08 . . . . . . g.54267
ATCTAC | GCCACTCGCTCTGGTGGGAACCTCGTGCTTGTGGGGCTGGGCTCTGAGATGACC c.840
I Y | A T R S G G N L V L V G L G S E M T p.280
. . . . . . g.54327
ACCGTACCCCTACTGCATGCAGCCATCCGGGAGGTGGATATCAAGGGCGTGTTTCGATAC c.900
T V P L L H A A I R E V D I K G V F R Y p.300
| 09 . . . . . g.55313
TGCAACAC | GTGGCCAGTGGCGATTTCGATGCTTGCGTCCAAGTCTGTGAATGTAAAACCC c.960
C N T | W P V A I S M L A S K S V N V K P p.320
. . . . . . g.55373
CTCGTCACCCATAGGTTTCCTCTGGAGAAAGCTCTGGAGGCCTTTGAAACATTTAAAAAG c.1020
L V T H R F P L E K A L E A F E T F K K p.340
. . . . . g.55427
GGATTGGGGTTGAAAATCATGCTCAAGTGTGACCCCAGTGACCAGAATCCCTGA c.1074
G L G L K I M L K C D P S D Q N P X p.357
. . . . . . g.55487
tgttaatgggctctgccctcatccccacagtcttgggatctcagggcacaatggctggac c.*60
. . . . . . g.55547
atgggtgggctctgatgcagaactttctcttttgaatgttaagaataactaatacaattc c.*120
. . . . . . g.55607
attgtgaacagaagtccttaagcagaggaattggtgtgccttaaagatacaatctgggat c.*180
. . . . . . g.55667
agtttgggggaacttgtagccagaatgccctgttcatgctgagcaaagttcagcaagtag c.*240
. . . . . . g.55727
agcagagtttggcaggcaggtgccaggaactccccttcttcctggagtgccttcattgag c.*300
. . . . . . g.55787
gaaggaaatctggcccttgggtttcctggttccactgctactgacccagaggggaatgag c.*360
. . . . . . g.55847
ggctgagttatgaaaagataacttcatgaagacttaactggcccagaagctgattttcat c.*420
. . . . . . g.55907
gaaaatctgccactcagggtctgggatgaaggcttgtcagcacttccagtttagaacgca c.*480
. . . . . . g.55967
atgtttctagagacatattggctgtttgttttgatgataaaaggagaataagaaaaggca c.*540
. . . . . . g.56027
tcactttcctggatccaggataatttttaaaccaatcaaatgaaaaaaacaaacaaacaa c.*600
. . . . . . g.56087
aaaaggaaatgtcatgtgaggttaaaccagtttgcattcccctaatgtggaaaaagtaag c.*660
. . . . . . g.56147
aggactactcagcactgtttgaagattgcctcttctacagcttctgagaattgtgttatt c.*720
. . . . . . g.56207
tcacttgccaagtgaaggaccccctccccaacatgccccagcccacccctaagcatggtc c.*780
. . . . . . g.56267
ccttgtcaccaggcaaccaggaaactgctacttgtggacctcaccagagaccaggagggt c.*840
. . . . . . g.56327
ttggttagctcacaggacttcccccaccccagaagattagcatcccatactagactcata c.*900
. . . . . . g.56387
ctcaactcaactaggctcatactcaattgatggttattagacaattccatttctttctgg c.*960
. . . . . . g.56447
ttattataaacagaaaatctttcctcttctcattaccagtaaaggctcttggtatctttc c.*1020
. . . . . . g.56507
tgttggaatgatttctatgaacttgtcttattttaatggtgggttttttttctggtaaga c.*1080
. . . . . . g.56567
tttagacctaaatcgcatcatgccaacttgtgactttgagactattcatcaagaatgagg c.*1140
. . . . . . g.56627
atatagtagccatgacatagcttgagctatagcctttaattccttactttggctatgggt c.*1200
. . . . . . g.56687
ggagggtgagtttgaagaggttctgattttcttgtaacctgggaaagccatgaccttgtg c.*1260
. . . . . . g.56747
cccgattctttcagattgctttgggtaataaatattggtggtggtatctgactcatgctg c.*1320
. . . . . . g.56807
ctgtttatggtcctgtttagtggggaatggactcaggttacccatttcccagagggaagg c.*1380
. . . . . . g.56867
atcccaggatttttgaaggttacatattttctgtaccaaatataatttcattgacatgaa c.*1440
. . . . . . g.56927
ttatctctaatcctcatgacaagccacatacacaatcattttgtagataaagaagatata c.*1500
. . . . . g.56986
aatgccagaggagaccttaagattgtcttacaacacaacccttcagttaacgagagagg c.*1559
(downstream sequence)
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