(used for variant description)
(last modified May 27, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000313.3 in the PROS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009813.1, covering PROS1 transcript NM_000313.3.
(upstream sequence)
. . . . g.5041
tttggaaacgtcacactgtggaggaaaagcagcaactaggg c.-301
. . . . . . g.5101
agctggtgaagaaggatgtctcagcagtgtttactaggcctccaacactagagcccatcc c.-241
. . . . . . g.5161
cccagctccgaaaagcttcctggaaatgtccttgttatcacttcccctctcgggctgggc c.-181
. . . . . . g.5221
gctgggagcgggcggtctcctccgcccccggctgttccgccgaggctcgctgggtcgctg c.-121
. . . . . . g.5281
gcgccgccgcgcagcacggctcagaccgaggcgcacaggctcgcagctccgcggcgccta c.-61
. . . . . . g.5341
gcgctccggtccccgccgcgacgcgccaccgtccctgccggcgcctccgcgcgcttcgaa c.-1
. . . . . . g.5401
ATGAGGGTCCTGGGTGGGCGCTGCGGGGCGCTGCTGGCGTGTCTCCTCCTAGTGCTTCCC c.60
M R V L G G R C G A L L A C L L L V L P p.20
. | 02 . . . . . g.51727
GTCTCAGAGGCAAACT | TTTTGTCAAAGCAACAGGCTTCACAAGTCCTGGTTAGGAAGCGT c.120
V S E A N F | L S K Q Q A S Q V L V R K R p.40
. . . . . . g.51787
CGTGCAAATTCTTTACTTGAAGAAACCAAACAGGGTAATCTTGAAAGAGAATGCATCGAA c.180
R A N S L L E E T K Q G N L E R E C I E p.60
. . . . . | 03 . g.54832
GAACTGTGCAATAAAGAAGAAGCCAGGGAGGTCTTTGAAAATGACCCGGAAACG | GATTAT c.240
E L C N K E E A R E V F E N D P E T | D Y p.80
. | 04 . . . . g.68426
TTTTATCCAAAATACTTAG | TTTGTCTTCGCTCTTTTCAAACTGGGTTATTCACTGCTGCA c.300
F Y P K Y L V | C L R S F Q T G L F T A A p.100
. . . . | 05 . . g.72961
CGTCAGTCAACTAATGCTTATCCTGACCTAAGAAGCTGTGTCAATG | CCATTCCAGACCAG c.360
R Q S T N A Y P D L R S C V N A | I P D Q p.120
. . . . . . g.73021
TGTAGTCCTCTGCCATGCAATGAAGATGGATATATGAGCTGCAAAGATGGAAAAGCTTCT c.420
C S P L P C N E D G Y M S C K D G K A S p.140
. . . . | 06 . g.73186
TTTACTTGCACTTGTAAACCAGGTTGGCAAGGAGAAAAGTGTGAATTTG | ACATAAATGAA c.480
F T C T C K P G W Q G E K C E F D | I N E p.160
. . . . . . g.73246
TGCAAAGATCCCTCAAATATAAATGGAGGTTGCAGTCAAATTTGTGATAATACACCTGGA c.540
C K D P S N I N G G C S Q I C D N T P G p.180
. . . . . . g.73306
AGTTACCACTGTTCCTGTAAAAATGGTTTTGTTATGCTTTCAAATAAGAAAGATTGTAAA c.600
S Y H C S C K N G F V M L S N K K D C K p.200
| 07 . . . . . . g.78220
G | ATGTGGATGAATGCTCTTTGAAGCCAAGCATTTGTGGCACAGCTGTGTGCAAGAACATC c.660
D | V D E C S L K P S I C G T A V C K N I p.220
. . . . . . g.78280
CCAGGAGATTTTGAATGTGAATGCCCCGAAGGCTACAGATATAATCTCAAATCAAAGTCT c.720
P G D F E C E C P E G Y R Y N L K S K S p.240
| 08. . . . . . g.80574
TGTGAAG | ATATAGATGAATGCTCTGAGAACATGTGTGCTCAGCTTTGTGTCAATTACCCT c.780
C E D | I D E C S E N M C A Q L C V N Y P p.260
. . . . . . g.80634
GGAGGTTACACTTGCTATTGTGATGGGAAGAAAGGATTCAAACTTGCCCAAGATCAGAAG c.840
G G Y T C Y C D G K K G F K L A Q D Q K p.280
| 09 . . . . . g.82450
AGTTGTGAG | GTTGTTTCAGTGTGCCTTCCCTTGAACCTTGACACAAAGTATGAATTACTT c.900
S C E | V V S V C L P L N L D T K Y E L L p.300
. . . . . . g.82510
TACTTGGCGGAGCAGTTTGCAGGGGTTGTTTTATATTTAAAATTTCGTTTGCCAGAAATC c.960
Y L A E Q F A G V V L Y L K F R L P E I p.320
| 10 . . . . . . g.86023
AGCAG | ATTTTCAGCAGAATTTGATTTCCGGACATATGATTCAGAAGGCGTGATACTGTAC c.1020
S R | F S A E F D F R T Y D S E G V I L Y p.340
. . . . . . g.86083
GCAGAATCTATCGATCACTCAGCGTGGCTCCTGATTGCACTTCGTGGTGGAAAGATTGAA c.1080
A E S I D H S A W L L I A L R G G K I E p.360
. . . . . . g.86143
GTTCAGCTTAAGAATGAACATACATCCAAAATCACAACTGGAGGTGATGTTATTAATAAT c.1140
V Q L K N E H T S K I T T G G D V I N N p.380
. | 11 . . . . . g.92632
GGTCTATGGAATATG | GTGTCTGTGGAAGAATTAGAACATAGTATTAGCATTAAAATAGCT c.1200
G L W N M | V S V E E L E H S I S I K I A p.400
. . . . . . g.92692
AAAGAAGCTGTGATGGATATAAATAAACCTGGACCCCTTTTTAAGCCGGAAAATGGATTG c.1260
K E A V M D I N K P G P L F K P E N G L p.420
. . . . . . g.92752
CTGGAAACCAAAGTATACTTTGCAGGATTCCCTCGGAAAGTGGAAAGTGAACTCATTAAA c.1320
L E T K V Y F A G F P R K V E S E L I K p.440
| 12 . . . . . . g.94251
CCG | ATTAACCCTCGTCTAGATGGATGTATACGAAGCTGGAATTTGATGAAGCAAGGAGCT c.1380
P | I N P R L D G C I R S W N L M K Q G A p.460
. . . . . . g.94311
TCTGGAATAAAGGAAATTATTCAAGAAAAACAAAATAAGCATTGCCTGGTTACTGTGGAG c.1440
S G I K E I I Q E K Q N K H C L V T V E p.480
. . . . . | 13 . g.99784
AAGGGCTCCTACTATCCTGGTTCTGGAATTGCTCAATTTCACATAGATTATA | ATAATGTA c.1500
K G S Y Y P G S G I A Q F H I D Y N | N V p.500
. . . . . . g.99844
TCCAGTGCTGAGGGTTGGCATGTAAATGTGACCTTGAATATTCGTCCATCCACGGGCACT c.1560
S S A E G W H V N V T L N I R P S T G T p.520
. . . . . . g.99904
GGTGTTATGCTTGCCTTGGTTTCTGGTAACAACACAGTGCCCTTTGCTGTGTCCTTGGTG c.1620
G V M L A L V S G N N T V P F A V S L V p.540
. . | 14 . . . . g.101935
GACTCCACCTCTGAAAAATCACAG | GATATTCTGTTATCTGTTGAAAATACTGTAATATAT c.1680
D S T S E K S Q | D I L L S V E N T V I Y p.560
. . . . . . g.101995
CGGATACAGGCCCTAAGTCTATGTTCCGATCAACAATCTCATCTGGAATTTAGAGTCAAC c.1740
R I Q A L S L C S D Q Q S H L E F R V N p.580
. . . . . . g.102055
AGAAACAATCTGGAGTTGTCGACACCACTTAAAATAGAAACCATCTCCCATGAAGACCTT c.1800
R N N L E L S T P L K I E T I S H E D L p.600
. . . . . . g.102115
CAAAGACAACTTGCCGTCTTGGACAAAGCAATGAAAGCAAAAGTGGCCACATACCTGGGT c.1860
Q R Q L A V L D K A M K A K V A T Y L G p.620
. | 15 . . . . . g.104735
GGCCTTCCAG | ATGTTCCATTCAGTGCCACACCAGTGAATGCCTTTTATAATGGCTGCATG c.1920
G L P D | V P F S A T P V N A F Y N G C M p.640
. . . . . . g.104795
GAAGTGAATATTAATGGTGTACAGTTGGATCTGGATGAAGCCATTTCTAAACATAATGAT c.1980
E V N I N G V Q L D L D E A I S K H N D p.660
. . . . . g.104846
ATTAGAGCTCACTCATGTCCATCAGTTTGGAAAAAGACAAAGAATTCTTAA c.2031
I R A H S C P S V W K K T K N S X p.676
. . . . . . g.104906
ggcatcttttctctgcttataataccttttccttgtgtgtaattatacttatgtttcaat c.*60
. . . . . . g.104966
aacagctgaagggttttatttacaatgtgcagtctttgattattttgtggtcctttcctg c.*120
. . . . . . g.105026
ggatttttaaaaggtcctttgtcaaggaaaaaaattctgttgtgatataaatcacagtaa c.*180
. . . . . . g.105086
agaaattcttacttctcttgctatctaagaatagtgaaaaataacaattttaaatttgaa c.*240
. . . . . . g.105146
tttttttcctacaaatgacagtttcaatttttgtttgtaaaactaaattttaattttatc c.*300
. . . . . . g.105206
atcatgaactagtgtctaaatacctatgtttttttcagaaagcaaggaagtaaactcaaa c.*360
. . . . . . g.105266
caaaagtgcgtgtaattaaatactattaatcataggcagatactattttgtttatgtttt c.*420
. . . . . . g.105326
tgtttttttcctgatgaaggcagaagagatggtggtctattaaatatgaattgaatggag c.*480
. . . . . . g.105386
ggtcctaatgccttatttcaaaacaattcctcagggggaacagctttggcttcatctttc c.*540
. . . . . . g.105446
tcttgtgtggcttcacatttaaaccagtatctttattgaattagaaaacaagtgggacat c.*600
. . . . . . g.105506
attttcctgagagcagcacaggaatcttcttcttggcagctgcagtctgtcaggatgaga c.*660
. . . . . . g.105566
tatcagattaggttggataggtggggaaatctgaagtgggtacattttttaaattttgct c.*720
. . . . . . g.105626
gtgtgggtcacacaaggtctacattacaaaagacagaattcagggatggaaaggagaatg c.*780
. . . . . . g.105686
aacaaatgtgggagttcatagttttccttgaatccaacttttaattaccagagtaagttg c.*840
. . . . . . g.105746
ccaaaatgtgattgttgaagtacaaaaggaactatgaaaaccagaacaaattttaacaaa c.*900
. . . . . . g.105806
aggacaaccacagagggatatagtgaatatcgtatcattgtaatcaaagaagtaaggagg c.*960
. . . . . . g.105866
taagattgccacgtgcctgctggtactgtgatgcatttcaagtggcagttttatcacgtt c.*1020
. . . . . . g.105926
tgaatctaccattcatagccagatgtgtatcagatgtttcactgacagtttttaacaata c.*1080
. . . . . . g.105986
aattcttttcactgtattttatatcacttataataaatcggtgtataattttaaaatgca c.*1140
. . . . . . g.106046
tgtgaatatctttattatatcaactgtttgaataaaacaaaattacataatagacattta c.*1200
g.106054
actcttca c.*1208
(downstream sequence)
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